Jean‐pierre Fryns

Jean‐pierre Fryns's AcademicInfluence.com Rankings

Jean‐pierre Fryns

Biology

#4216

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#6321

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Genetics

#337

World Rank

#396

Historical Rank

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Biology

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Jean‐pierre Fryns's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. (2004) (755)
Chromosome instability is common in human cleavage-stage embryos (2009) (720)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. (2005) (615)
GATA3 haplo-insufficiency causes human HDR syndrome (2000) (537)
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation (1998) (466)
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. (1997) (462)
The neurobiology of autism. (1999) (448)
Distinct haematological disorder with deletion of long arm of No. 5 chromosome (1974) (428)
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy (2002) (424)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia (2001) (411)
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. (2003) (406)
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports (2006) (399)
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype (2007) (398)
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (2003) (389)
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome (1999) (374)
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation (2000) (370)
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. (1997) (366)
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (2005) (363)
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. (2006) (353)
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. (2001) (346)
The annual incidence of DiGeorge/velocardiofacial syndrome. (1998) (331)
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. (2003) (330)
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. (2004) (295)
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation (1999) (290)
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations (1999) (288)
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. (2002) (285)
MECP2 is highly mutated in X-linked mental retardation. (2001) (278)
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (2002) (277)
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome (2009) (271)
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant (2008) (270)
PTPN11 mutations in LEOPARD syndrome (2002) (258)
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation (2000) (244)
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome (2012) (242)
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. (2000) (239)
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. (2000) (230)
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A) (2007) (229)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015) (229)
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. (2003) (226)
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate (2005) (217)
Single-cell chromosomal imbalances detection by array CGH (2006) (217)
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome (2012) (215)
Human chromosome fragility. (2008) (206)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (2008) (205)
PTEN mutation in a family with Cowden syndrome and autism. (2001) (202)
Mental status of females with an FMR1 gene full mutation. (1996) (199)
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. (2007) (198)
High prevalence of SLC6A8 deficiency in X-linked mental retardation. (2004) (196)
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. (2000) (190)
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. (1999) (189)
Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes (2007) (187)
Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders (2004) (186)
Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? (1999) (184)
Protein-truncating mutations in ASPM cause variable reduction in brain size. (2003) (180)
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome (2005) (180)
Prader–Willi syndrome: Causes of death in an international series of 27 cases (2004) (178)
Recombination hotspot in NF1 microdeletion patients. (2001) (173)
Clinical and molecular characterization of patients with distal 11q deletions. (1995) (170)
Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis (2005) (168)
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. (2007) (160)
Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. (1992) (159)
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation (2003) (158)
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. (2013) (144)
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation (2002) (144)
Clinical profile of Angelman syndrome at different ages. (1995) (143)
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. (2000) (140)
MLL2 mutation spectrum in 45 patients with Kabuki syndrome (2011) (140)
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. (2003) (138)
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. (2008) (135)
Structural chromosome rearrangements in couples with recurrent fetal wastage. (1998) (132)
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. (2009) (132)
Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature (1987) (130)
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. (1994) (130)
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (1999) (129)
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. (2003) (128)
The female and the fragile X. A study of 144 obligate female carriers. (1986) (128)
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism (2003) (127)
Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia. (2001) (126)
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) (2007) (125)
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. (2006) (125)
Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study (2005) (123)
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map (2004) (121)
Psychological distress in the 5-year period after predictive testing for Huntington's disease (2003) (120)
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. (1996) (120)
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) (2007) (119)
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome (2005) (119)
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. (2004) (119)
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (2005) (118)
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. (1999) (117)
Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling (1998) (116)
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. (2000) (116)
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. (2006) (114)
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. (2003) (113)
The XYY syndrome: a follow-up study on 38 boys. (2003) (113)
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB (2006) (113)
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH (2005) (111)
Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation (2006) (110)
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome (2003) (110)
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse (2003) (109)
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium (2007) (109)
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism (2010) (109)
The Genetic Basis of the Pierre Robin Sequence (2006) (109)
Psychotic disorders in Prader–Willi syndrome (2004) (106)
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. (2005) (105)
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. (2005) (105)
Pfeiffer syndrome (2006) (104)
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. (2003) (102)
Carrier testing in minors: a systematic review of guidelines and position papers (2006) (101)
Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter (2009) (101)
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. (2004) (100)
Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome (2011) (100)
The East Flanders Prospective Twin Survey (EFPTS) (2002) (99)
Angelman syndrome (AS, MIM 105830) (2009) (97)
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia. (2006) (97)
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. (1993) (96)
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate (2009) (96)
Pathogenesis of congenital cystic adenomatoid malformation of the lung (1992) (95)
Three cases of two unrelated families with a microduplication 22q11.2: developmental skull defects and phenotype variability (2011) (94)
Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality. (1993) (94)
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (1997) (94)
The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation (2007) (91)
Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children. (2005) (91)
Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients (1987) (88)
Strengths and weaknesses in the cognitive profile of youngsters with Prader‐Willi syndrome (1991) (86)
Pervasive developmental disorders in Prader–Willi syndrome: The Leuven experience in 59 subjects and controls (2006) (86)
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. (2006) (86)
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. (2008) (85)
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism (2007) (85)
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. (2002) (84)
Nonsyndromic X-linked mental retardation: where are the missing mutations? (2003) (84)
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (2002) (83)
Pathogenesis of the prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia. (1984) (83)
Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome. (1998) (81)
Subtelomeric imbalances in phenotypically normal individuals (2007) (81)
Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls (2009) (81)
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities (2004) (80)
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. (2009) (80)
Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients (2004) (80)
X-chromosome polysomy in the male (1988) (79)
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. (2000) (78)
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors (2013) (77)
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. (1995) (77)
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients (1994) (74)
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH) (2002) (73)
A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy (1997) (72)
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. (1999) (72)
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies (2011) (72)
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. (1998) (70)
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation (2004) (69)
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (2005) (69)
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome (2009) (69)
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum. (2002) (69)
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (1999) (68)
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression (2008) (67)
Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation (1994) (66)
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 (2002) (65)
Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation (1993) (65)
Cri du chat syndrome: changing phenotype in older patients. (2000) (65)
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family (1998) (64)
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes (2007) (63)
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 (2011) (63)
Breakage–fusion–bridge cycles leading to inv dup del occur in human cleavage stage embryos (2011) (63)
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia (2005) (63)
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations (2009) (62)
Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency (2006) (62)
Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile. (1992) (62)
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents (1983) (61)
Interstitial telomeric sequences at the junction site of a jumping translocation (1997) (60)
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. (1987) (60)
Hyperacusis in Williams syndrome: a sample survey study. (1997) (59)
Non-Participation in Predictive Testing for Huntington’s Disease: Individual Decision-Making, Personality and Avoidant Behaviour in the Family (1997) (59)
X-linked mental retardation with marfanoid habitus. (1987) (59)
Intelligence, behaviour and psychosocial development in Turner syndrome. A cross-sectional study of 50 pre-adolescent and adolescent girls (4-20 years). (1993) (59)
Cardiovascular malformations in Turner's and Noonan's syndrome. (1978) (58)
Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection. (2000) (58)
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. (1998) (58)
Origins of the fragile X syndrome mutation. (1993) (58)
Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome. (1994) (58)
Neurofibromatosis type 1 in childhood: a study of the neuropsychological profile in 45 children. (1994) (58)
MASA syndrome: new clinical features and linkage analysis using DNA probes. (1990) (57)
Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1 (1986) (57)
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. (1991) (57)
Mathematical disabilities in children with velo-cardio-facial syndrome (2007) (57)
What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH) (2007) (57)
Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. (1995) (56)
Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis. (1999) (56)
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction (2009) (56)
Chromosome 22q11 deletion presenting as the Potter sequence. (1997) (55)
Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. (1991) (55)
Two new cases of FMR1 deletion associated with mental impairment. (1995) (55)
Aarskog syndrome: the changing phenotype with age. (1992) (55)
Clinical and molecular genetic features of congenital spinal muscular atrophy (1996) (55)
PRENATAL DIAGNOSIS OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLÆMIA Expression of a Genetic Receptor Disease in Utero (1978) (54)
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. (1995) (54)
In-frame deletion in MECP2 causes mild nonspecific mental retardation. (2002) (54)
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. (1994) (53)
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. (1999) (53)
The causality of de novo copy number variants is overestimated (2011) (53)
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. (1995) (52)
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. (1997) (52)
Fetal akinesia sequence caused by nemaline myopathy. (1997) (52)
The pathology of trisomy 13 syndrome (1988) (52)
Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region (2007) (51)
Diagnosis and management of heterokaryotypic monochorionic twins (2006) (51)
Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence. (1995) (51)
Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations (2003) (51)
Prader‐Willi‐like phenotype in fragile X syndrome (1994) (50)
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation (2010) (50)
Renal and urological tract malformations caused by a 22q11 deletion. (1996) (50)
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. (1999) (50)
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. (1995) (50)
Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome. (1999) (49)
High frequency of iatrogenic monozygotic twins with administration of clomiphene citrate and a change in chorionicity. (2006) (49)
Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome (2009) (49)
Pfeiffer syndrome type 2: further delineation and review of the literature. (1998) (49)
Oculoauriculovertebral spectrum and cerebral anomalies. (1992) (48)
Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease (1999) (48)
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH) (2010) (48)
Turner syndrome patients as adults: a study of their cognitive profile, psychosocial functioning and psychopathological findings. (1993) (48)
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients (2003) (48)
The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigrees (1997) (48)
Cytogenetic and morphological analysis of early products of conception following hystero‐embryoscopy from couples with recurrent pregnancy loss (2012) (48)
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2 (2011) (48)
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region (2007) (47)
Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy. (2000) (47)
CHRNG genotype–phenotype correlations in the multiple pterygium syndromes (2011) (46)
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event (2003) (46)
Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome) (2007) (46)
Novel syndromic form of X-linked complicated spastic paraplegia. (2000) (46)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2009) (45)
The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15 (2007) (45)
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis (2006) (45)
Problem behaviors and personality of children and adolescents with Prader-Willi syndrome. (1998) (44)
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. (2002) (44)
Genetic heterogeneity of gingival fibromatosis on chromosome 2p (1999) (44)
Chromosomal Anomalies in Individuals with Autism (2004) (44)
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. (2008) (43)
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. (1996) (43)
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330) (1998) (43)
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. (1983) (43)
The Cohen syndrome. (1981) (43)
Fertility in patients with X chromosome deletions (1982) (43)
MECP 2 is highly mutated in X-linked mental retardation (2001) (42)
Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3) (1987) (42)
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. (2004) (42)
Phenotypic checklist to screen for fragile X syndrome in people with mental retardation. (2000) (42)
Genotype prediction in the fragile X syndrome. (1991) (42)
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. (1992) (41)
A peculiar subphenotype in the fra(X) syndrome: extreme obesity‐short stature‐stubby hands and feet‐diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome? (1987) (41)
Distal deletion of the long arm of chromosome 6: a specific phenotype? (1986) (41)
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. (1999) (41)
Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles (2013) (40)
Deletion in chromosome region 22q11 in a child with CHARGE association (1998) (40)
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. (1998) (40)
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. (1997) (40)
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). (2005) (40)
The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. (1988) (39)
Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams‐Oliver (plus) syndrome (1996) (39)
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) (2006) (39)
) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation (2003) (39)
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11 (1999) (39)
Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family (2003) (39)
Familial deletions of chromosome 22q11: the Leuven experience. (1998) (39)
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) (1990) (39)
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences (2002) (38)
Age at diagnosis, body mass index and physical morbidity in children and adults with the Prader-Willi syndrome. (2004) (38)
Interstitial deletion of the long arm of chromosome 15. (1982) (38)
The Coffin‐Siris syndrome: Report of a family and further delineation (1984) (38)
DISC1 duplication in two brothers with autism and mild mental retardation (2010) (37)
Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly (2010) (37)
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. (2002) (37)
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes (1997) (37)
The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients. (2007) (37)
Interstitial deletion of the distal long arm of chromosome 4. (1992) (37)
Partial duplications of the ATRX gene cause the ATR-X syndrome (2007) (36)
Strong variable clinical presentation in 3 patients with 7q terminal deletion. (1998) (36)
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. (2009) (36)
Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:). (1989) (36)
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation (2006) (36)
Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia (2010) (36)
Partial DiGeorge syndrome in two patients with a 10p rearrangement (1999) (36)
Single central maxillary incisor and holoprosencephaly. (1987) (35)
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. (2006) (35)
Cohen syndrome: the clinical symptoms and stigmata at a young age (1996) (35)
Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989. (1990) (35)
Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T’s. Look at the hands (2011) (35)
The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers (1990) (35)
Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies (2006) (35)
Hereditary renal adysplasia: new observations and hypotheses. (1994) (35)
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation (2006) (35)
Spectrum of clinical and autopsy findings in trisomy 18 syndrome. (1982) (35)
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C (2010) (34)
Adults with Williams‐Beuren syndrome: evaluation of the medical, psychological and behavioral aspects (1994) (34)
Melorheostosis and somatic mosaicism. (1995) (34)
Vesico-ureteral reflux: a genetic condition? (1998) (34)
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. (2005) (33)
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome (2010) (33)
Temperament in Williams syndrome. (1996) (33)
Pathogenesis of the lethal multiple pterygium syndrome. (1990) (33)
Cardio-facio-cutaneous (CFC) syndrome: report of a new patient. (1989) (32)
Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age. (2001) (32)
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome (1996) (32)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2007) (32)
DIAGNOSTIC ECHOGRAPHIC FINDINGS IN CRYPTOPHTHALMOS SYNDROME (FRASER SYNDROME) (1997) (32)
A dysmorphic boy with 4qter deletion and 4q32.3‐34.3 duplication: Clinical, cytogenetic, and molecular findings (2004) (32)
Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene. (1996) (31)
Evidence for increased SOX3 dosage as a risk factor for X‐linked hypopituitarism and neural tube defects (2014) (31)
X‐chromosome polysomy in the female: personal experience and review of the literature (1983) (31)
A severe case of mandibuloacral dysplasia in a girl. (1992) (31)
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype (2010) (31)
Holoprosencephaly: the Maastricht experience. (2001) (31)
NRAS Mutations in Noonan Syndrome (2012) (31)
A genetic‐diagnostic survey in an institutionalized population of 173 severely mentally retarded patients (1986) (30)
Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome. (2001) (30)
Prenatal diagnosis of facial clefting as part of the oculo‐auriculo‐vertebral spectrum (2001) (30)
Regional Proteus syndrome and somatic mosaicism. (1994) (30)
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. (1998) (30)
On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association (1995) (30)
Behavioral phenotype in childhood type of dystrophia myotonica. (2000) (30)
Partners of mutation-carriers for Huntington's disease: forgotten persons? (2005) (30)
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. (1996) (30)
Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22) (1985) (30)
Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). (1996) (29)
Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. (1995) (29)
Post‐zygotic origin of isochromosome 12p (2004) (29)
Congenital scalp defects with distal limb reduction anomalies. (1987) (29)
DNA Methylation Variability at Growth‐Related Imprints Does not Contribute to Overweight in Monozygotic Twins Discordant for BMI (2011) (29)
Cerebellar Hypoplasia in a Patient with Velo‐Cardio‐Facial Syndrome (1996) (29)
Cowden syndrome. (1995) (28)
Attitudes towards carrier testing in minors: a systematic review. (2005) (28)
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. (2005) (28)
Relationship between age and IQ among fragile X males: a multicenter study. (1991) (28)
Parental mosaicism of JAG1 mutations in families with Alagille syndrome (2001) (28)
Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome (2001) (28)
A distinct neurocognitive phenotype in female fragile‐X premutation carriers assessed with visual attention tasks (2003) (28)
The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. (1998) (27)
Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. (1994) (27)
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning (2003) (27)
Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency (2004) (27)
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. (2012) (27)
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. (1992) (27)
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. (1993) (27)
Dominant branchial cleft syndrome with characteristics of both branchio‐oto‐renal and branchio‐oculo‐facial syndrome (1990) (27)
Behavioral and emotional problems in youngsters with Prader-Willi syndrome. (1991) (26)
Genetic heterogeneity in Rieger eye malformation. (1994) (26)
Partial fra(X) phenotype with megalotestes in fra (X)-negative patients with acquired lesions of the central nervous system. (1986) (26)
Personality profiles of youngsters with Prader-Willi syndrome and youngsters attending regular schools. (1995) (26)
Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions. (2009) (26)
Restrictive dermopathy with distinct morphological abnormalities. (1990) (26)
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements (2009) (26)
Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region (1997) (25)
The 49,XXXXY syndrome. Clinical and psychological follow‐up data (1988) (25)
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (2002) (25)
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (1996) (25)
Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium. (1996) (25)
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family (1989) (25)
A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourly disturbed patients including fragile X-screening. The Hondsberg experience. (1988) (25)
Interstitial 16q deletion with typical dysmorphic syndrome. (1981) (25)
Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms. (2000) (25)
Mathematical disabilities in young primary school children with velo-cardio-facial syndrome. (2006) (25)
Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. (2005) (25)
Follow-up of adult males with chromosome 18p deletion. (2005) (25)
Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation (2004) (25)
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. (2005) (25)
Skeletal dysplasias: 38 prenatal cases. (2008) (25)
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida (1994) (24)
Triplication of distal chromosome 10q (1999) (24)
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. (2007) (24)
Further delineation of the KBG syndrome. (1998) (24)
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability (2013) (24)
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. (2011) (24)
Nonimmunologic hydrops fetalis. A study of ten cases. (1982) (24)
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome (2005) (24)
Further evidence for the location of the BPES gene at 3q2. (1991) (24)
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007) (23)
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence. (2000) (23)
Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome. (1992) (23)
Goldston syndrome reconsidered. (1993) (23)
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. (2005) (23)
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. (1995) (23)
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23 (1993) (23)
Benign multiple diffuse neonatal hemangiomatosis after a pregnancy complicated by polyhydramnios and a placental chorioangioma. (2003) (23)
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation (2003) (23)
New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes (2000) (23)
The fetal akinesia deformation sequence. A fetopathological approach. (1990) (23)
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes (2003) (23)
Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6. (1991) (23)
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. (2003) (23)
Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. (1994) (23)
Prenatal diagnosis of campomelic dwarfism (1981) (23)
Involvement of a palindromic chromosome 22‐specific low‐copy repeat in a constitutional t(X; 22)(q27;q11) (2002) (22)
Partial distal 12q trisomy. (1980) (22)
Glypican 1 gene: good candidate for brachydactyly type E. (2002) (22)
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene (2003) (22)
X-linked recessively inherited non-specific mental retardation. Report of a large family. (1977) (22)
Parental mosaicism of JAG1 mutations in families with Alagille syndrome (2001) (22)
Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome. (1980) (22)
Adaptive behavior in the fragile X syndrome: profile and development. (1993) (22)
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). (1997) (22)
Diaphragmatic hernia in the Coffin-Siris syndrome. (1998) (22)
Vocal cord paralysis and cystic kidney disease in Hajdu‐Cheney syndrome (1997) (22)
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome. (2008) (22)
Diaphragmatic hernia as the first echographic sign in Apert syndrome (2000) (22)
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (1993) (22)
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? (1985) (22)
Observations on intelligence and behavior in 15 patients with Legius syndrome (2011) (21)
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD) (2002) (21)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001 (2002) (21)
Association of Meckel syndrome with M‐anisosplenia in one patient (1982) (21)
Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation (1986) (21)
Marden‐Walker syndrome: case report, literature review and nosologic discussion (1993) (21)
Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication. (1998) (21)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation. (1996) (21)
"Cataplexy" in Coffin-Lowry syndrome. (1998) (21)
Partial trisomy of the short arm of chromosome 3 (3p25 to 3pter). A distinct clinical entity. (1979) (21)
Limited Expansion of the (CAG)n Repeat of the Huntington Gene: A Premutation (?) (1994) (21)
Full monosomy 21: A clinically recognizable syndrome? (1977) (21)
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome (2003) (21)
Preimplantation genetic diagnosis for an insertional translocation carrier. (2004) (21)
Caudal deficiency sequence in 7q terminal deletion. (1988) (21)
Cognitive profile in adult, normal intelligent female fragile X carriers. (1992) (21)
Linkage analysis in three families with nonspecific X-linked mental retardation. (1996) (21)
A genetic‐diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience (1988) (21)
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. (1992) (20)
Meier-Gorlin syndrome: the adult phenotype. (1998) (20)
The Brachmann‐de Lange syndrome in two siblings of normal parents (1987) (20)
8p trisomy in a malformed foetus. (1982) (20)
Langer-Giedion syndrome and deletion of the long arm of chromosome 8 (2004) (20)
Apparently new "anophthalmia-plus" syndrome in sibs. (1995) (20)
The partial monosomy 10q syndrome: report on two patients and review of the developmental data. (2008) (20)
Toriello‐Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH (2011) (20)
Increased head circumference and facial cleft as presenting signs of the nevoid basal-cell carcinoma syndrome. (1991) (20)
Chromosome healing of constitutional chromosome deletions studied by microdissection (1998) (20)
Y to X translocation in man (1977) (20)
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome (1984) (20)
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis. (2010) (20)
Partial trisomy and monosomy 8p due to inversion duplication (1994) (20)
Costello syndrome: the natural history of a true postnatal growth retardation syndrome. (1995) (20)
Excess of mental retardation and/or congenital malformation in reciprocal translocations in man (2004) (20)
Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21). (1979) (20)
The elfin face syndrome and the short arm of chromosome 15. (1982) (19)
Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome. (1997) (19)
The lethal multiple pterygium syndrome: a nosological approach. (1990) (19)
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. (1991) (19)
Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions (2010) (19)
Anomalous cerebral venous drainage in Aarskog syndrome (1984) (19)
Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3). (1994) (19)
Kabuki make-up (Niikawa-Kuroki) syndrome in a girl presenting with vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism. (1993) (19)
Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder? (2000) (19)
The concurrence of Klinefelter syndrome and fragile X syndrome. (1988) (19)
Distinct dysmorphic syndrome in a child with inverted distal 5q duplication. (1987) (19)
Mosaic tetrasomy 8p in two patients: clinical data and review of the literature. (1994) (19)
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (1991) (19)
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. (1986) (19)
Unusually long survival in a case of full triploidy of maternal origin (1977) (19)
Aberrant twinning (diprosopus) associated with anencephaly (1983) (19)
Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy (1998) (19)
Population cytogenetics of autosomal fragile sites (1987) (19)
Congenital leukaemia with 46,XX,t(Bq+,Cq-) cells. (1972) (19)
The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family. (1992) (18)
Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). (2004) (18)
EEC syndrome without ectrodactyly: report of two new families. (1990) (18)
Sex chromatin and cytogenetic survey of 10417 adult males and 357 children institutionalized in Belgian institutions for mentally retarded patients (1975) (18)
The Borjeson-Forssman-Lehmann syndrome. A family study. (2008) (18)
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. (1987) (18)
Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height (1993) (18)
Acrofacial dysostosis type Rodríguez (2005) (18)
Polyhydramnios as a prenatal symptom of the DiGeorge/velo‐cardio‐facial syndrome (1998) (18)
Neonatal haemochromatosis (1990) (18)
Personality profiles of children and adolescents with neurofibromatosis type 1 (2003) (18)
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 (2007) (18)
[Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6]. (1974) (18)
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1991) (18)
Triploid-diploid mosaïcism in a deeply mentally retarded adult. (1980) (18)
Paracentric inversion in man: Personal experience and review of the literature (2004) (18)
Partial duplication of the long arm of chromosome 4. (1980) (18)
Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred (1977) (18)
Longitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation? (1992) (18)
Fetal akinesia sequence caused by glycogenosis type VII. (1995) (18)
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect (1998) (18)
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. (2010) (18)
Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture. (1988) (18)
Partial trisomy 15q: report of a patient and literature review. (1997) (18)
Corpus callosum agenesis in Coffin-Lowry syndrome. (1994) (17)
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome. (1989) (17)
Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood. (1987) (17)
The hand‐foot‐genital syndrome: on the variable expression in affected males (1993) (17)
Pathogenesis of vestibular schwannoma in ring chromosome 22 (2009) (17)
“Adult” form of polycystic kidney disease in neonates (1979) (17)
Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). (1991) (17)
Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)). (1997) (17)
The Coffin‐Siris syndrome: data on mental development, language, behavior and social skills in 12 children (1995) (17)
McKusick-Kaufman syndrome: The diagnostic challenge of abdominal distension in the neonatal period (1992) (17)
A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome (2012) (17)
Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121)) (1996) (17)
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. (1997) (17)
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor (2001) (17)
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. (1988) (17)
Tuberous sclerosis. Bourneville disease. (1978) (17)
Fragile-X syndrome and autism: a prevalent association or a misinterpreted connection? (1993) (17)
5q- anomaly in a patient with disseminated teratoma. (1983) (16)
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21) (1977) (16)
Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology. (1987) (16)
A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. (2008) (16)
A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience. (2008) (16)
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation (2005) (16)
Gonadoblastoma and Y-chromosome fluorescence. (1986) (16)
Holoprosencephaly and postaxial polydactyly: another observation. (1988) (16)
Sudden death in children with Prader-Willy syndrome: a call for collaboration. (1998) (16)
Tertiary partial 14 trisomy 47, XX, +14q- (2004) (16)
The Prader-Willi syndrome: a self supporting program for children, youngsters and adults. (1994) (16)
Parenting, family contexts, and personality characteristics in youngsters with VCFS. (2004) (16)
Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome. (1989) (16)
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium. (1999) (16)
MURCS association with duplicated thumb (2002) (16)
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism (2012) (16)
Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay (2001) (15)
9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata (1985) (15)
Prenatal diagnosis of trisomy 17 mosaicism (2007) (15)
Partial trisomy 1, karyotype 46,XY,12-,t(1q, 12p)+ (1973) (15)
Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients (1989) (15)
Cartilage-hair hypoplasia. (1980) (15)
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses (2004) (15)
Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? (1991) (15)
Acrofacial dysostosis with postaxial limb deficiency. (1988) (15)
Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype (1979) (15)
The Meckel syndrome. Pathological and cytogenetic observations in eight cases (2004) (15)
Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome. (1992) (15)
Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys. (1989) (15)
Psychological profile and behavioural characteristics in 12 patients with Prader-Willi syndrome. (1990) (15)
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. (1996) (15)
Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns (1983) (15)
Interstital deletion of 13q associated with retinoblastoma and congenital malformations. (1979) (15)
Retinitis pigmentosa, hearing loss and vitiligo: report of two patients (1989) (15)
Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? (1996) (15)
Apparently enhanced visual information processing in female fragile X carriers: preliminary findings. (1994) (15)
Report of two Turkish infants with Norman-Roberts syndrome. (2004) (15)
A form of non-specific mental retardation is probably caused by a microdeletion in a Belgian family (1996) (15)
13q deletion syndrome in an adult mentally retarded patient. (1999) (14)
Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. (1996) (14)
Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations. (1979) (14)
Isodicentric (X)(q13): a new characteristic chromosomal anomaly in myeloproliferative syndrome? (1982) (14)
The Prader-Willi syndrome and the Angelman syndrome. (2002) (14)
Personality profile in adult female fragile X carriers: assessed with the Minnesota Multiphasic Personality Profile (MMPI). (1994) (14)
Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome (1989) (14)
The foetal alcohol syndrome. (1977) (14)
The 49,XXXXY syndrome: clinical and psychological findings in five patients. (2008) (14)
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. (2013) (14)
X‐linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies (1997) (14)
Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome? (1990) (14)
Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes. (1991) (14)
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome? (1996) (14)
Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome. (1990) (14)
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24) (1977) (14)
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. (2006) (14)
The ICF syndrome: new case and update. (2001) (14)
Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes. (1998) (14)
The Floating‐Harbor syndrome: two affected siblings in a family (1996) (14)
On the nosology of moderate mental retardation with special attention to X-linked mental retardation. A diagnostic genetic survey of 274 institutionalized moderately mentally retarded men. (1990) (14)
Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. (1995) (14)
Opitz C syndrome and pseudohypoaldosteronism. (1990) (14)
Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias (1988) (14)
Trisomy 12p due to familial t(12p-,6q+) translocation (2004) (14)
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome (1993) (14)
Rieger syndrome and interstitial 4q26 deletion. (1992) (14)
X-linked mental retardation with Marfanoid habitus: a changing phenotype with age? (1991) (14)
Ring chromosome 15 syndrome (1979) (13)
Mucosal neuromata syndrome (MEN type IIb (III)). (1988) (13)
Partial trisomy 13: Karyotype 46,XY,-6,+t(13q,6q) (1974) (13)
Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of two siblings born to consanguineous parents (1988) (13)
De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature. (2005) (13)
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11) (1979) (13)
Piecing together the problems in diagnosing low-level chromosomal mosaicism (2010) (13)
Transmission of fragile (X)(q27) from normal male(s) (1982) (13)
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. (2001) (13)
The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report. (1990) (13)
The Dubowitz syndrome in a teenager (1979) (13)
Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features. (2001) (13)
Clinical study and haplotype analysis in two brothers with Partington syndrome. (2002) (13)
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. (1998) (13)
Prenatal diagnosis of non‐obstructive megacystis as part of the megacystis‐microcolon‐intestinal hypoperistalsis syndrome with favourable postnatal outcome (2001) (13)
Partial trisomy 18q in a newborn with typical 18 trisomy phenotype (1978) (13)
Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis. (2002) (13)
Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood. (1980) (13)
Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015 (2014) (13)
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. (1998) (13)
A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223? (1996) (13)
Distal 10p deletion syndrome. (1981) (13)
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly (2007) (13)
De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24). (1980) (13)
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease (1996) (13)
Adults with Williams syndrome. (1991) (13)
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype. (2001) (12)
Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome. (1999) (12)
Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome. (1996) (12)
Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary (1996) (12)
Familial occurrence of severe ulnar aplasia and lobster claw feet: A new syndrome (1978) (12)
Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor-associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein. (1995) (12)
The 4p-syndrome in a 24-year-old female. (1981) (12)
46,XY/46,XX mosaicism and congenital pulmonary lymphangiectasis with chylothorax. (1993) (12)
Partial duplication of the long arm of chromosome 22 (22q 13) with complete 22 trisomy phenotype. (1980) (12)
Multiple Pterygium Syndrome type Escobar in two brothers Follow-up data from childhood to adulthood (1988) (12)
Congenital scalp defect with distal limb reduction anomalies (1977) (12)
High incidence of mental retardation in Turner syndrome patients with ring chromosome X formation. (1990) (12)
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. (2018) (12)
Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations (2004) (12)
Personality profiles of youngsters with velo-cardio-facial syndrome. (2002) (12)
Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome (1985) (12)
Focal dermal hypoplasia (Goltz syndrome) in a male. (1978) (12)
Strengths and weaknesses in the cognitive profile of fra(X) patients. (1989) (12)
On the nosology of the Cornelia de Lange and Coffin‐Siris syndromes (1986) (12)
A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X‐linked mental retardation (1991) (12)
Severe primary pulmonary hypoplasia ("acinar dysplasia") in sibs: a genetically determined mesodermal defect? (1998) (12)
Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene (1998) (12)
Gender mix: does it modify birthweight--outcome association? (2005) (12)
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). (1990) (12)
Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome (1992) (12)
Hyperlaxity in males with Melnick-Needles syndrome. (1988) (12)
On two patients with and without the classical Wolf‐Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome (1996) (12)
Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. (1989) (12)
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis) (2004) (12)
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects. (2002) (12)
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity? (1993) (12)
The KBG syndrome: follow‐up data on three affected brothers (1994) (12)
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males (2005) (12)
Clinical Etiological Survey of a Population of 471 Mentally Retarded Patients Living in an Institution in the Southern Part of the Netherlands (2001) (12)
Oculo-auriculo-vertebral spectrum in Klinefelter syndrome. (1999) (12)
Genetic control over fragile X chromosome expression (1986) (12)
Balanced transmission of centromeric fission products in man (2004) (12)
Unusual in vivo rearrangements of the Y‐chromosome in two males (1987) (12)
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion (1997) (12)
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (1989) (12)
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. (2000) (12)
Bloom's syndrome. Possible pitfalls in clinical diagnosis. (1984) (11)
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (1997) (11)
Wolf-Hirschhorn (4P-) syndrome in adults. (2001) (11)
The various phenotypes in Xp deletion. Observations in eleven patients (2004) (11)
X/X translocation in a patient with Turner's syndrome (1973) (11)
XY/XXY mosaicism and fragile X syndrome. (1983) (11)
A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features. (1994) (11)
Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome (1978) (11)
Selective advantage of fra (X) heterozygotes (1990) (11)
De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis. (1985) (11)
Alopecia‐mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism (1996) (11)
Cryptic translocation t(5;18) in familial mental retardation. (2000) (11)
Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia) (2011) (11)
Balanced and unbalanced pericentric inversion of chromosome 11. (1981) (11)
First trimester prenatal diagnosis of 13q‐syndrome presenting with increased nuchal translucency, Dandy‐Walker malformation and small parietal encephalocoele (2008) (11)
Partial monosomy 11q and trisomy 12q: variable expression in two siblings. (2003) (11)
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. (1990) (11)
De novo 3q/7q translocation and associated interstitial 7q35 deletion (1988) (11)
Expression of fragile site at 10q25 in normal culture conditions. (1983) (11)
Terminal deletion of long arm of chromosome 4: patient report and literature review. (1993) (11)
Cystic hygroma and hydrops fetalis in dup(11p) syndrome. (1985) (11)
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I (1986) (11)
Longitudinal changes in IQ among fragile X females: a preliminary multicenter analysis. (1994) (11)
Syndrome of proximal interstitial deletion 4p15. (1995) (11)
Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation. (1999) (11)
Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl (2004) (11)
Speech and language in Wolf-Hirschhorn syndrome: a case-study. (2004) (11)
The prenatal diagnosis of spinal muscular atrophy (1998) (11)
Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female child. (2003) (10)
Recurrent involvement of chromosomal region 6q21 in heterotaxy. (2001) (10)
Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13. (1995) (10)
Paracentric inversions in man (1986) (10)
Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q. (2006) (10)
Split‐hand/split‐foot malformation with paternal mutation in the p63 gene (2001) (10)
Suggestively increased rate of infant death in children of fra(X) positive mothers. (1988) (10)
A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype? (1992) (10)
Ring chromosome 15 syndrome. Further delineation of the adult phenotype. (1986) (10)
MASA syndrome: delineation of the clinical spectrum at prepubertal age. (1992) (10)
Renovascular hypertension. Prospective diagnostic yield in a random access population. (1973) (10)
Ring chromosome 14 syndrome. (1982) (10)
New lethal acrofacial dysostosis syndrome. (1991) (10)
Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8 (2004) (10)
A familial complex chromosome translocation resulting in duplication of 6p25. (2004) (10)
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. (1992) (10)
Familial paracentric inversion of the short arm of chromosome 3. (1979) (10)
Growth properties and in vitro life span of Alzheimer disease and Down syndrome fibroblasts. A blind study (1990) (10)
Nager acrofacial dysostosis. An adult male with severe neurological deficit. (1996) (10)
Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients. (2001) (10)
Mosaic tetrasomy 21 in severe mental handicap (1982) (10)
Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion. (1981) (10)
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (2002) (10)
Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance? (2002) (10)
Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype (2001) (10)
Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies (2006) (10)
The Coffin-Lowry syndrome (1984) (10)
A Comparative Study on Culture Conditions and Routine Expansion of Amniotic Fluid-Derived Mesenchymal Progenitor Cells (2013) (10)
Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p). (1998) (10)
The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3‐q23? (1995) (9)
Holzgreve-Wagner-Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation. (1988) (9)
Craniofrontonasal dysplasia: more severe expression in the mother than in her son. (1995) (9)
Costello syndrome: report of an 8-month-old marasmic boy. (1996) (9)
Early development (5 to 48 months) in Williams syndrome. A study of 14 children. (1999) (9)
Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype. (1989) (9)
Micro-ablepharon of the upper eyelids and vaginal atresia. (2001) (9)
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? (2003) (9)
Primitive neuroectodermal tumor: a newly recognized cause of early fetal death. (1985) (9)
Partial trisomy 14q due to familial t(14q-, 11q+) translocation (1977) (9)
Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. (1993) (9)
Adaptive behavior in the fra(X) syndrome: a longitudinal study in eight patients. (1989) (9)
Occipital Horn syndrome in a 2-year-old boy. (1999) (9)
A specific phenotype associated with trisomy 15 mosaicism. (1993) (9)
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. (1998) (9)
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion (1990) (9)
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. (2000) (9)
Normal/trisomy 13 mosaicism in a 38-year-old male. (1994) (9)
Type III congenital cystic adenomatoid malformation of the lung: another cause of elevated alpha fetoprotein? (1987) (9)
Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1) (1998) (9)
Sex-linked recessive inheritance in Charcot-Marie-Tooth disease with partial clinical manifestations in female carriers (2004) (9)
Tentative clinical diagnosis of Lujan‐Fryns syndrome—A conglomeration of different genetic entities? (2016) (9)
Second polar body inclusion results in diploid/triploid mixoploidy. (2003) (9)
Partial monosomy of the long arm of chromosome 16: A distinct clinical entity? (1979) (9)
The Lujan-Fryns syndrome in a population of mildly to moderately mentally retarded adolescents (1996) (9)
Intelligence and the fra(X) syndrome: a review. (1991) (8)
Prenatal diagnosis and long survival of Fryns syndrome (1995) (8)
Cytomegalovirus reactivation in pregnancy and subsequent isolated bilateral hearing loss in the infant. (2000) (8)
Von Recklinghausen-neurofibromatosis: a study of the psychological profile. (1992) (8)
Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13) (1993) (8)
Semilobar holoprosencephaly in a 46,XY female fetus (2001) (8)
Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro (1978) (8)
Mosaicism for duplication 12q (12q13→12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant (2002) (8)
Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue. (1990) (8)
9th international workshop on fragile X syndrome and X-linked mental retardation. (2000) (8)
Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association? (1997) (8)
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). (2001) (8)
Malformative syndrome with ring chromosome 13 (2004) (8)
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20). (1998) (8)
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. (1998) (8)
Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. (1990) (8)
Silver staining of the supernumerary chromosome in the cat-eye syndrome. (1980) (8)
Terminal 6q25.3 deletion and abnormal behaviour. (2001) (8)
The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4. (1979) (8)
A newborn with the cat-eye syndrome (2004) (8)
Should we screen for FMR1 premutations in female subjects presenting with ataxia? (2005) (8)
Paracentric inversion in the short arm of chromosome 1 (1979) (8)
The Prader‐Willi syndrome and the Sotos syndrome: syndromes or sequences? (1988) (8)
patients with Cowden d isease (1997) (8)
Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata (1979) (8)
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. (2000) (8)
The Coffin syndrome (1977) (8)
Early urethral obstruction sequence and unbalanced translocation with terminal 10p duplication/1p deficiency. (1997) (8)
Increased nuchal translucency thickness in thrombocytopenia‐absent‐radius syndrome (2005) (8)
Carpal and tarsal osteolysis. (1980) (8)
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? (1999) (8)
Laryngeal atresia sequence as part of the DiGeorge developmental field defect. (1992) (8)
Reply to Salviati et al. (2006) (8)
Hereditary hydronephrosis and the short arm of chromosome 6 (1993) (8)
The Kabuki make-up (Niikawa-Kuroki) syndrome: 12 new patients, further delineation of the non-Japanese phenotype (1994) (7)
Chromosomal anomalies and autosomal syndromes. (1987) (7)
The otopalatodigital syndrome. (1978) (7)
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. (1998) (7)
Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis. (1986) (7)
Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype (1987) (7)
Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes (1992) (7)
Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips. (1989) (7)
Non-fluorescent Y-chromosome in mixed gonadal dysgenesis with 45,X/46,XY mosaicism. (1980) (7)
Trichorhinophalangeal syndrome type 2: another syndromic form of hydrometrocolpos. (1997) (7)
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. (1998) (7)
First‐trimester scan in trisomy 14 mosaicism (2004) (7)
Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients. (1993) (7)
Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report. (1990) (7)
Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation—A new syndrome? (1979) (7)
Second trimester miscarriage of a male fetus with incontinentia pigmenti. (1998) (7)
Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia (1994) (7)
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother (1979) (7)
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. (1996) (7)
Adults with Williams syndrome: Evaluation of the medical, psychological and behavioural aspects (1994) (7)
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH. (1996) (7)
Mid-trimester ultrasonographic diagnosis of early manifesting “adult” form of polycystic kidney disease (1986) (7)
Positive maternal serum triple test screening in severe early onset hypophosphatasia (2004) (7)
Partial duplication of the short arm of chromosome 10 (1979) (7)
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin‐Lowry syndrome (1996) (7)
Holoprosencephaly in deletions of proximal chromosome 14q. (1998) (7)
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23 (2004) (7)
Interstitial delection of the long arm of chromosome 8 (2004) (7)
Thrombocytopenia in the Brachmann-de Lange syndrome. (1994) (7)
Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation. (1996) (7)
Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex). (1998) (7)
Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report. (2012) (7)
Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome? (1993) (7)
A new centromeric heteromorphism in the short arm of chromosome 20. (1988) (7)
Deletion of the short arm of chromosome 9 (1980) (7)
X-Linked Mental Retardation and Fragile (Xq 27) Site (1984) (7)
Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis (2009) (7)
Choroid plexus cysts and oligohydramnios: presenting echographic signs in a female fetus with deletion of the Wolf-Hirschhorn syndrome region (4p16.3). (2001) (7)
A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. (1999) (7)
Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. (1996) (7)
Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. (1995) (7)
Björnstad syndrome in a patient with mental retardation. (1998) (7)
ELEVATED MATERNAL SERUM AND AMNIOTIC FLUID ALPHA‐FETOPROTEIN LEVELS IN THE DENYS–DRASH SYNDROME (1996) (7)
Large congenital follicular ovarian cyst in a girl with Kabuki syndrome. (1996) (7)
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. (1998) (7)
Scalp defects in Fryns syndrome. (1998) (7)
Terminal 2q37 deletion and autistic behaviour. (2005) (7)
Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit? (1997) (7)
Fragile X mutation and FG syndrome-like phenotype. (1996) (7)
New chromosomal syndromes. III. The 13q deletion syndrome. (1980) (7)
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? (2003) (7)
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? (1997) (7)
The 4p- syndrome, with a report of two new cases (2004) (7)
X-linked complicated spastic paraplegia (McKusick 31290), MASA syndrome (McKusick 30925) and X-linked hydrocephaly due to congenital stenosis of the aquaduct of Sylvius (McKusick 30700): a variable expression of the same mutation at Xq28 (1991) (7)
The velocardiofacial syndrome: a review. (2002) (7)
Antenatal ultrasound diagnosis of fetal malformations: possibilities, limitations and dilemmas. (1984) (7)
The Roberts tetraphocomelia syndrome: identical limb defects in two siblings. (1987) (7)
46,XXip karyotype in a woman with normal stature and gonadal dysgenesis without other congenital anomalies (2004) (7)
On the nosology of severe acrofacial dysostosis with limb deficiency. (1999) (7)
Resolution of non-immune hydrops in Noonan syndrome with favorable outcome. (2002) (6)
Progressive hydrocephalus in Noonan syndrome. (1997) (6)
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. (1996) (6)
Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome. (1987) (6)
Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation. (2005) (6)
Hematometra and sudden death after status epilepticus in the adolescent female with Fryns syndrome. (1999) (6)
Lateral facial clefts: a case report. (2001) (6)
[49,XXXXX syndrome: apropos of a further case]. (1977) (6)
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review. (1996) (6)
Diaphragmatic hernia with extralobar lung sequestration in the Beckwith-Wiedemann syndrome. (2004) (6)
Ocular symptoms in Cornelia de Lange syndrome. (1977) (6)
25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma. (2005) (6)
The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. (1991) (6)
Abdominal distension as the first echographic sign of hydrometrocolpos in a female fetus. (1991) (6)
Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter). (2001) (6)
New chromosomal syndromes. I. Partial trisomy of the distal portion of the long arm of chromosome number 10 (10q24 leads to 10qter): a clinical entity. (1979) (6)
Late‐onset isolated cystic hygroma. A first clinical sign of proteus syndrome (1995) (6)
The importance of excluding 13q deletion mosaicism in the diagnosis of retinoblastoma associated with dysmorphic features. (2005) (6)
CONGENITAL BOWING OF THE LONG BONES (1983) (6)
Follow-up of adult males with chromosome 18p deletion (2004) (6)
Prenatal diagnosis of central nervous system abnormalities: diagnostic possibilities and limitations of fetal neurosonography. (2000) (6)
Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14) (1994) (6)
Trisomy 18 presenting with severe limb deformations (2008) (6)
Syndromic forms of hydrometrocolpos. (1997) (6)
Melorheostosis in a 3-year-old girl. (1980) (6)
The incidence of DiGeorge/Velo-Cardio-Facial syndrome (1999) (6)
Unusual chromosome 9 polymorphism and reproductive failure. (1985) (6)
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism. (2000) (6)
Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome? (1992) (6)
The Kabuki make‐up (Niikawa‐Kuroki) syndrome and isolated transient hyperphosphatasemia (1994) (6)
Goeminne syndrome (OMIM 314300): another male patient 30 years later. (2003) (6)
New findings in the behavioral profile of young FraX females. (1996) (6)
Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata (1978) (6)
Pseudo‐Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8 (2007) (6)
Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter (2011) (6)
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. (2001) (6)
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? (1991) (6)
Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development (1992) (6)
The Greig polysyndactyly-craniofacial dysmorphism syndrome (1977) (6)
Oculo-auriculo-vertebral spectrum malformation and contralateral absence of internal carotid artery. (1993) (6)
Psychological findings in three children with ring 15 chromosome. (2008) (6)
Translocation 46,X,t(Y;14)(q122;q111) in a case of sterility in the male. (1982) (6)
Triple Test Screening for Down Syndrome: Looking Back on a False-Positive Result and Having or Not Having a Triple Test in Subsequent Pregnancies (2001) (6)
A physical map of the chromosome 12 centromere (2004) (6)
Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype (1979) (6)
Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters: A new entity among the mental retardation‐macrocephaly syndromes? (1988) (6)
Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29 (2012) (6)
Partial trisomy 17q (1979) (6)
Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1. (1999) (6)
On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome. (1989) (6)
Partial monosomy of the short arm of chromosome 9 (1978) (6)
Miller postaxial acrofacial dysostosis. The phenotypic changes with age. (1993) (6)
The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings. (1994) (6)
A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience. (1995) (6)
Miller postaxial acrofacial dysostosis syndrome. Follow‐up data of a family and confirmation of autosomal recessive inheritance (1993) (6)
Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome (2004) (6)
The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation (2000) (6)
Inverted nipples in Robinow syndrome. (1996) (6)
X‐chromosomes attached by their long arm: case report and replication kinetics of the rearranged X‐chromosome (1982) (6)
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (2001) (6)
Partial distal 6p trisomy in a malformed fetus. (1986) (6)
Thrombocytopenia and cleft hand in monosomy 21. (1994) (6)
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. (2005) (6)
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity? (2009) (6)
The fetal phenotype in 15q2 duplication. (1988) (6)
The fetal phenotype of partial trisomy of the long arm of chromosome 4 (4q22----4qter). (1991) (6)
Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity (1992) (6)
“Spontaneous” FRA16B is a hot spot for sister chromatid exchanges (1991) (6)
Prenatal diagnosis of schizencephaly after inhalation of organic solvents (2007) (6)
Mental status and FMR1 gene mutation in females (1996) (5)
Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? (1990) (5)
Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated (2012) (5)
The echographic diagnosis of fetal akinesia. A challenge towards etiological diagnosis and management. (1990) (5)
Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family. (1995) (5)
The Greig polysyndactyly craniofacial dysmorphism syndrome: Variable expression in a family (1981) (5)
Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence (2009) (5)
Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers (1979) (5)
Trisomy 18 syndrome. (1978) (5)
VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. (1993) (5)
An asymmetric type of chondrodysplasia in an adult male (1986) (5)
Cosegregation of T108A Elk-1 with mental retardation. (2000) (5)
Turner syndrome: the Leuven experience (1965-1989) in 478 patients. I. Patient's age at the time of diagnosis in relation to chromosomal findings. (1990) (5)
A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32. (2001) (5)
Partial trisomy 22q with elevated arylsulfatase-A activity. (1979) (5)
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome (1997) (5)
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). (1980) (5)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and neurological symptoms in males (2006) (5)
The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family. (1997) (5)
FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish (2011) (5)
Dysosteosclerosis in a mentally retarded boy. (1980) (5)
Re: First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy) (2003) (5)
Letter to the editor. Mental status and psychosocial functioning in XYY males (1998) (5)
De novo interstitial tandem duplication of chromosome 20p12.1p13 (2003) (5)
Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype. (1988) (5)
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type. (1994) (5)
Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome. (2000) (5)
Brief clinical report: the Dubowitz syndrome in a teenager. (1979) (5)
18q- syndrome in mother and daughter (1979) (5)
Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus. (2010) (5)
Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant. (2000) (5)
Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys. (1995) (5)
Congenital scalp defects associated with postaxial polydactyly (1979) (5)
Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient. (1996) (5)
Autosomal dominant isolated velopharyngeal insufficiency (2002) (5)
Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis (1979) (5)
Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM *250250) (2000) (5)
Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10). (2009) (5)
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. (1992) (5)
Trisomy 9p and tetrasomy 9p: a unique, clinically recognisable syndrome. (1998) (5)
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly (2006) (5)
Autosomal whole arm translocations in man (1986) (5)
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. (2003) (5)
Tertiary partial 14 trisomy 47, XX, plus 14q minus. (1974) (5)
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. (2004) (5)
On the etiology of hearing loss in a population of 155 institutionalized children. (1991) (5)
Follow-up of an adult with Keutel syndrome. (1999) (4)
Penile enlargement in tetrasomy 18p: an additional feature? (1990) (4)
Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome. (1996) (4)
The Noonan syndrome. (1977) (4)
Predictive genetic testing in children. A clinical-ethical analysis (2006) (4)
Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance. (1993) (4)
Cystic hygroma and multiple pterygium syndrome. (1984) (4)
Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males (1996) (4)
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature. (1995) (4)
Smith-Lemli-Opitz syndrome: the changing phenotype with age. (1992) (4)
Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7 (2000) (4)
Abnormal first trimester screen in partial deletion of chromosome 6p21: a case-report. (2007) (4)
Velocardiofacial syndrome presenting as distal arthrogryposis (2004) (4)
Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy. (1993) (4)
[Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21]. (1987) (4)
[A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]. (1989) (4)
Lethal hypophosphatasia, spur type: case report and fetopathological study. (1998) (4)
Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome. (1994) (4)
[Posterolateral diaphragmatic hernia and Brachmann-de-Lange syndrome]. (1987) (4)
Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient. (2002) (4)
A longitudinal study of intelligence in Dutch fragile X boys. (1992) (4)
Cohen syndrome: fertility in a female patient (1991) (4)
Follow‐up of a child with trisomy 17 mosaicism (2008) (4)
Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1 (2002) (4)
Angelman's syndrome and 15q11-q13 deletion. (1990) (4)
Bilateral aplasia of the mandibular ramus and condyle in Klinefelter syndrome. (1996) (4)
Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome. (1992) (4)
Trisomy 21 in a second trimester male hydropic fetus with "Noonan-syndrome-phenotype": nuchal and thoracic lymphangiomatosis, oedema of the dorsum of hands and feet, and bicuspid pulmonary valve. (1998) (4)
A patient with Langer type of mesomelic dwarfism. (1976) (4)
Identical psychological profile and behaviour pattern in different types of mutation in the FMR‐1 region (1993) (4)
Double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema. (1987) (4)
Abdominal distension in Kaufman-McKusick syndrome. (1987) (4)
Maternal serum positive triple test screening in a fetus with partial distal trisomy 7p associated with maternal 7p;18p translocation. (2002) (4)
Noonan phenotype in the basal cell nevus syndrome. (1991) (4)
Multiple diffuse hemangiomatosis (1974) (4)
A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus. (2004) (4)
A boy with acromesomelic dysplasia. Growth course and growth hormone release. (1985) (4)
X-linked mental retardation and neurological symptoms: a nosological approach. (1996) (4)
Minimal dysmorphic stigmata in 9q deletion of paternal origin. (1992) (4)
Diagnostic evaluation for asymmetry: consider genetic mosaicism (2004) (4)
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. (1995) (4)
Mandibulo-acral dysplasia in a one-year-old boy. (2000) (4)
Two pericentric inversions inv(7)(p15;q32) and inv(9)(p11;q13) in a male with absence of vas deferens (2004) (4)
MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/ 14q duplication (1993) (4)
Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype. (1979) (4)
Heterogeneity in omphalocoele with absent radial ray complex. (1999) (4)
The role of the Y-chromosome in sex determination. (1992) (4)
A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. (1999) (4)
Mosaic pericentric inversion of chromosome 2. (1983) (4)
The East Flanders Prospective Twin Survey (EFPTS) (2006) (4)
Partial trisomy of the short arm of chromosome 3 (3p25→3pter) (2004) (4)
No significant increase in spontaneous and ethyl methane sulfonate-induced sister chromatid exchanges at the Xq27.3 fragile site. (1990) (4)
Cognitive and behavioral characteristics in 4 affected males of a family with non-specific X-linked mental retardation and TM4 SF2-gene mutation. (2002) (4)
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1991) (4)
Acrocentric/18p translocation in two mentally retarded males. Delineation of the adult phenotype. (1986) (4)
Reply to Dr. Lin (1992) (4)
Craniosynostosis and low middle frequency perceptive deafness in mother and son. A distinct entity? (1990) (4)
Sex chromosome pentasomy (49, XXXXY) presenting with generalized oedema and hypogenitalism at 12 weeks. (2001) (3)
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. (2008) (3)
Population cytogenetics of autosomal fragile sites (1986) (3)
Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy. (1980) (3)
Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father. (2002) (3)
Terminal distal 13q trisomy due to de novo dup(13)(q32 --> qter). (2005) (3)
Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign. (1991) (3)
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1 (2000) (3)
On two patients with and without the complete Wolf-Hirschorn syndrome sharing the same chromosome 4p16.3-specific probe deletion: evidence of a contiguous gene deletion syndrome (1996) (3)
Prenatal diagnosis. Clinical aspects (2002) (3)
[Chromosome X-linked mental retardation and marfanoid syndrome]. (1988) (3)
Complex chromosomal rearrangement (CCR), moderate mental retardation and discrete dysmorphic syndrome. (1993) (3)
Neurofibromatosis type 1. (1994) (3)
X-linked mental retardation with marfanoid habitus. (1991) (3)
The Robinow syndrome. (1980) (3)
Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations. (2003) (3)
Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype (2002) (3)
Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). (2004) (3)
Pericardial effusion in the first trimester of pregnancy (2011) (3)
Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9 (2004) (3)
22q11 deletion: the Maastricht experience focussing on some unusual presentations (1999) (3)
Structural abnormalities of the Y‐chromosome and craniosynostosis (1992) (3)
Axial mesodermal dysplasia spectrum: variable symptoms in affected sibs. (1993) (3)
Ring chromosome 15: follow-up data on physical and psychological development. (1990) (3)
Follow-up of 16q deletions. (1990) (3)
Multiple-marker screen positive results in Rubinstein-Taybi syndrome. (1996) (3)
Acalvaria and occipital scalp defects. (1994) (3)
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH. (2008) (3)
Aniridia-Wilms' tumor association and 11p interstitial deletion (1981) (3)
Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non‐related males (1995) (3)
Skin pigmentation anomalies in ring chromosome 13. (1998) (3)
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family (2005) (3)
Proteus syndrome and distal arthrogryposis. (1997) (3)
Cloning of candidate genes for X-linked mental retardation by use of chromosome aberrations (1996) (3)
Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype. (1999) (3)
Prenatal diagnosis of Meckel syndrome. (1980) (3)
Fetal Caudal Dysgenesis after Maternal Cardiopulmonary Bypass in Pregnancy (2007) (3)
Coping with twins discordant for intellectual disabilities: the mothers' view. (2002) (3)
Occipital scalp defect associated with valvular pulmonary stenosis. A new entity? (1992) (3)
Sporadic case of bilateral fusion of metacarpal 4 and 5 (2004) (3)
Hydrocephalus with features of VATER. (1995) (3)
Massive hydrocele in postpubertal fra(X) males. (1994) (3)
Perinatal mortality and XY/XX mosaicism (1980) (3)
A malformed newborn with 9p and 4q trisomy. (1981) (3)
Effect of balanced X/autosome translocations on sexual and physical development. A personal experience in 4 patients. (1985) (3)
Familial infantile cortical hyperostosis (1983) (3)
Mutation in the gene for protein tyrosine phosphatase SHP-2 (PTPN11) in a large family with Noonan/cardio-facio-cutaneous syndrome (2002) (3)
[Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year]. (1989) (3)
Larsen syndrome presenting as a familial syndrome of dwarfism, distinct oldish facial appearance and bilateral clubfeet in mother and daughter. (1993) (3)
Symmetrical tetraphocomelia without associated congenital malformations: a nosological dilemma. (2002) (3)
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations (2000) (3)
Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome with Increased Nuchal Translucency and Negative Serum Integrated Screening for Trisomy 21 (2011) (3)
An autosome-Y translocation restudied (1973) (3)
“Opitz C syndrome and pseudohypoaldosteronism” is caused by a chromosome 4q deletion (2009) (3)
Screening for the fragile X syndrome: the necessity of international guidelines for molecular genetics predictive testing in general. (1995) (3)
Preconception care. (2010) (3)
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? (1993) (3)
Psychiatric genetics: the case of single gene disorders (2002) (3)
An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. (1989) (3)
Factors which contribute to cytogenetic frequency of expression in families of fragile X females. (1992) (3)
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia? (1998) (3)
Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles (2013) (3)
The Greig polysyndactyly craniofacial dysmorphism syndrome. (1980) (3)
A boy with facial dysmorphism, macrocephaly, and Dandy-Walker malformation due to familial unbalanced translocation der(18)(t(11;18)(q23.3;p11.21)mat (2005) (2)
Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature. (2007) (2)
Cystic hygroma colli in triplo-X syndrome. (2000) (2)
Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? (1999) (2)
Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities. (1996) (2)
Multiple synostosis syndrome (1980) (2)
Oto-onycho-peroneal syndrome: confirmation of a syndrome. (1998) (2)
Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: a distinct MCA/MR syndrome? (1993) (2)
Hydrometrocolpos—Polydactyly syndrome in a macerated female foetus (1981) (2)
Ectodermal dysplasia, Rapp-Hodgkin type in the mother and severe ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome in the child (1996) (2)
A familial syndrome of dwarfism, bilateral club feet, premature aging and progressive panhypogammaglobulinemia. (1994) (2)
MASA syndrome (1992) (2)
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability (2013) (2)
Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings (2008) (2)
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. (2002) (2)
Psychopathologische fenotypes of traditionele psychiatrische diagnostiek. Twee voorbeelden (2003) (2)
MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients. (2000) (2)
Moderate mental-retardation and atypical phenotype in mosaic 18 trisomy (1979) (2)
Duplication (11)(q13.3→q14.2) in a patient with Noonan syndrome (1994) (2)
Popliteal pterygium and multiple pterygium syndromes. (2001) (2)
Dandy‐Walker malformation and postaxial Polydactyly: nosological comments (1997) (2)
Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes. (1997) (2)
Unknown. The combination of vitiligo vulgaris with somatic and psychomotor retardation, cleft palate and facial dysmorphism: a distinct entity? (1991) (2)
LETTER TO THE EDITOR. MULTIPLE‐MARKER SCREEN POSITIVE RESULTS IN RUBENSTEIN–TAYBI SYNDROME (1996) (2)
Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS malformations. (1993) (2)
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: frequent increased gene dosage of known XLMR genes (2007) (2)
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome. (2000) (2)
Fountain syndrome: further delineation of the clinical syndrome and follow-up data. (1996) (2)
47,XXY karyotype in a patient with Beckwith-Wiedemann syndrome. (1986) (2)
Pre- and postnatal growth retardation with severe mental retardation, acral limb deficiencies and ocular anomalies: a new syndrome of inherited intrauterine dwarfism? (1977) (2)
a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein (2)
Scalp defect associated with postaxial polydactyly: Confirmation of a distinct entity with autosomal dominant inheritance (2004) (2)
Mapping of a genetic factor for the X-linked infantile spasms syndrome (MIM 308350) to Xp11.4 - Xpter in two pedigrees (1997) (2)
The Opitz hypertelorism-hypospadias syndrome. Further delineation of the spectrum of clinical findings. (1987) (2)
Anophthalmia/microphtalmia associated with right lateral facial cleft/microtia. (2001) (2)
Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients. (1996) (2)
Survey of brain-expressed genes in a 7.3 mb region on proximal xp involved in non-syndromic X-linked mental retardation (2003) (2)
Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism? (1991) (2)
Ovarian function in fragile X carriers. (1996) (2)
Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome (2003) (2)
Molecular karyotyping: Towards improved pre- and postnatal diagnosis (2005) (2)
Dandy-Walker malformation in a male fetus with mosaic 45,X/46,X,del(Y)(q11). (2008) (2)
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (2002) (2)
Microdeletions and molecular genetics (2011) (2)
Gross rearrangements in the MECP2 gene in two patients with Rett syndrome (2002) (2)
On the nosology of the craniodigital syndromes: report of a family and review of the literature. (1997) (2)
TO JMG Z inc finger 81 ( ZNF 81 ) mutations associated with X-linked mental retardation (2004) (2)
Familial cryptic translocation with deletion 4q33→4qter and duplication 7q34→7qter in brothers with mental retardation, macrocephaly and iris coloboma (2003) (2)
[Greig's syndrome: variable polysyndactyly associated with distinct craniofacial dymorphism]. (1982) (2)
A new syndrome: multiple congenital abnormalities and mental retardation in two brothers. (2012) (2)
Apparent Greig cephalopolysyndactyly and sinus node disease. (1993) (2)
8p- syndrome: A new microdeletion syndrome associated with hyperactivity and aggressive behavior (1997) (2)
Epileptic encephalopathy in a boy with an interstitial deletion of Xp22 comprising the CDKL5 gene (2006) (2)
On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies. (1999) (2)
Is the expression of fra(2)(q13) age dependent? (1988) (2)
Selective feticide by cord occlusion in four sets of heterokaryotyupic monochorionic twins (2003) (2)
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. (2002) (2)
Partial trisomy 4p and Brachmann-de Lange syndrome. (2000) (2)
An unclassifiable type of spondylo-peripheral epiphyseal dysplasia associated with 21 trisomy. (1993) (2)
A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter). (1999) (2)
The Aarskog syndrome (1978) (2)
Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1→q27) (2003) (2)
Dolichomegasigmoid in Aarskog syndrome. (1993) (2)
Psychosis in Prader Willi syndrome and chromosomal 15 maternal uniparental disomy (2002) (2)
Genomic deletions account for more than 10% of the FOXL2 mutations in BPES families and can be revealed by MLPA analysis (2004) (2)
Triploidy: 109 Prenatal Diagnoses (2008) (2)
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome. (2014) (2)
Neurodevelopmental changes with age in Ullrich-Turner syndrome. (1996) (2)
Syndromic clefting : broadening the clinical spectrum of an “old” syndrome, confirmation of a rare syndrome and description of a novel entity (2005) (2)
Genetic aspects and intracytoplasmic sperm injection: an update on non-Y-chromosomal genetic defects (1998) (2)
Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1. (2005) (2)
A follow-up study on 12 prenatally diagnosed boys with Klinefelter syndrome. (2005) (2)
Hypomelanosis of Ito and severe sensorineural deafness. (1992) (2)
Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome? (1995) (2)
Nager type of Acrofacial dysostosis: an example of autosomal dominant transmission with variable expression (1991) (2)
X-linked mental retardation with agenesis of the corpus callosum. (1993) (2)
A male with two idic(Y)(q12) chromosomes: A distinct phenotype resembling the XXXY/XXXXY syndrome (2005) (2)
Molecular karkyotyping detecs structural low grade mosaics in 4 % of patietns with idiopathic mental retardation and multiple congenital aberrations (2005) (2)
Unusual translocation in Down syndrome. (1980) (2)
The Wolf-Hirschhorn syndrome in adults (1997) (2)
Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect. (1994) (2)
Association between XV2c/CS7/KM19/D9 haplotypes and the ΔF508 mutation A study of 57 Belgian families (1990) (2)
Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2. (1999) (2)
Prenatal diagnosis of trisomy 21: registration results from a single genetic center. (2008) (1)
Haplotyping of single human cells (2009) (1)
WITHDRAWN: Human chromosome fragility. (2007) (1)
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17–23, 2006) (2006) (1)
Partial trisomy 9q-in a polymalformed new-born infant. Karyotype: 47,XX, + del (9) (q33). (1978) (1)
Genomic rearrangements of the grem1-fmn1 locus cause oligosyndactyly, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly (2010) (1)
Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita (2004) (1)
Fragile×expression and×inactivation (1990) (1)
Increased nuchal translucency with de novo acrocentric/18p translocation. (2002) (1)
Familial transmission of autosomal whole arm translocation. (1988) (1)
Fragile X syndrome and FG syndrome-like phenotype (1995) (1)
Clinical and Molecular Characterization of Patients with Distal I I q Deletions (2007) (1)
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism (2012) (1)
The fetal phenotype in 2p trisomy. (1986) (1)
Prader-Willi syndrome in a boy with duplication 15q12 karyotype (1997) (1)
The psychological complexity of predictive DNA testing for Huntington's disease (1995) (1)
[Body and craniofacial biometric study of 26 Klinefelter patients compared to 307 controls]. (1983) (1)
Severe progressive neurological disorder associated with hydrocephalus in a man with fragile X syndrome. (1994) (1)
Prenatal diagnosis of trisomy 21 between 1991 and 1999 in the Leuven Centre for Human Genetics: effect of triple test screening. (2002) (1)
Chromosomal rearrangements arise at high frequency during early human embryogenesis (2008) (1)
MECP2 relateddisorders in male patients with mental retardation and neurological symptoms (2004) (1)
GJA1 mutations in oculo-dento-digital dysplasia (2005) (1)
Prenatal Diagnosis of Hemimegalencephaly: Report of Two Cases (2006) (1)
The Coffin-Siris syndrome: Data on the mental development, language, behaviour and social skills of 12 children (1995) (1)
Turner syndrome: II. Associated anomalies, mental performance and psychological problems in 218 patients diagnosed in Leuven in the period 1965-1989. (1990) (1)
Marden-Walker phenotype: a diagnostic dilemma. (1996) (1)
On the recurrence risk of 18 trisomy. (1991) (1)
The analysis of 4p chromosomal abnormalities using micro-array CGH; genotype-phenotype correlation (2006) (1)
Mosaic supernumerary small ring chromosome. (1981) (1)
The Aarskog syndrome. (1978) (1)
P. Meera Khan (1998) (1)
A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded patients (1996) (1)
Personal independence of adult mentally retarded men with fragile-X syndrome. (1994) (1)
Clinical features in patients with duplications of chromosome 18 (1996) (1)
Comment on ‘Genetic considerations in the prenatal diagnosis of overgrowth syndromes’, by Vora and Bianchi (2010) (1)
The Borjeson‐Fbrssman‐Lehmann syndrome (1986) (1)
Mutations in the SOX18 transcription factor underlie recessive and dominant forms of lymphedema with hypotrichosis and telangiectasia. (2003) (1)
TO JMG Mild Wolf-Hirschhorn syndrome : microarray CGH analysis of atypical 4 p 16 . 3 deletions enables refinement of the genotype-phenotype map (2004) (1)
Personality profiles of children and adolescents with Williams syndrome and children and adolescents visiting regular schools (1995) (1)
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? (1996) (1)
The syndrome of lujan-fryns in the differential diagnosis of schizophrenia (1995) (1)
Skewed X-inactivation in female carriers of dyskeratosis congenita (1996) (1)
Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? (2005) (1)
Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A “new” mental retardation syndrome (1990) (1)
Mesomelic form of short stature, congenital cataract, patent ductus arteriosus and muscular hypotonia associated with de novo translocation (13;18)(q14;q23) (2004) (1)
Simple and translation forms of monosomy 4p16.1↔ pter: quantitative syndrome definition and cytogenetic evaluation by FISH (2007) (1)
Narrowing the critical deletion region for autism spectrum disorders in chromosome 16p11.2 (2009) (1)
[Sexual ambiguity and a non-fluorescent Y chromosome]. (1987) (1)
Patient with the combination of Klippel-Feil anomaly, partial agenesis of the sacrum, bladder incontinence, and unilateral hydronephrosis. (1989) (1)
Preaxial polydactyly in the 4p- syndrome. (1998) (1)
Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. (2008) (1)
CATCH 22: the expanded clinical spectrum (1996) (1)
ICF Syndrome (Immunodeficiency-Centromeric Instability-Facial anomalies Syndrome): delineation of the clinical syndrome (1996) (1)
Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. (2013) (1)
Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome? (2004) (1)
Partial trisomy 11q syndrome (2006) (1)
Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. (1996) (1)
Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male (1999) (1)
Behavioral Phenotypes in Children and Adolescents with Prader-willi Syndrome and Williams-beuren Syndrome (1996) (1)
STRUCTURAL CHROMOSOME REARANGMENT IN COUPLES WITH RECURENT FETAL WASTAGE (1998) (1)
Trisomy of the short arm of chromosome number 9: a clinical entity. (1980) (1)
Specific treatment programs for NF1 children (1996) (1)
A novel X-linked severe chronic neutropenia syndrome maps to Xp11.3-q21.3 (2000) (1)
Twin reversed arterial perfusion sequence presenting as intrauterine cyst (2013) (1)
The study of behavioural phenotypes: implications for practice and management (2002) (1)
Massively parallel sequencing in >250 families with X-linked intellectual disability (2011) (1)
Lobar holoprosencephaly and Xq22 deletion. (1991) (1)
Array-CGH: a novel tool in genetic diagnosis of individuals with congenital heart defects (2006) (1)
Osteodysplasty a rare skeletal dysplasia. (1979) (1)
UvA-DARE ( Digital Academic Repository ) Novel HOXA 13 mutations and the phenotypic spectrum of hand-foot-genital syndrome (2017) (1)
Schematic representation of NF-1 clinical features in French. (1989) (1)
Prenatal diagnosis and genetic counseling in 21 trisomy: its impact on family planning. (1981) (1)
Inverted distal duplication of the long arm of chromosome 8: borderline intelligence and discrete dysmorphic syndrome. (1991) (1)
High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome (2005) (1)
Comparison of visual abilities in Williams-Beuren syndrome, Down syndrome and Turner syndrome: A pilot study (1997) (1)
Down's syndrome in brother and sister without evident trisomy 21 (1979) (1)
A patient with a de novo 11q24.2-->qter deletion. (2004) (1)
. X-linked non-specific mental retardation (RX): linkage studies in 25 unrelated families (1997) (1)
Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation. (1992) (1)
Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset. (2002) (1)
Internal male pseudohermaphroditism in a 6 week old child (1986) (1)
Caudal regression anomalad. (1981) (1)
Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. (1993) (1)
Mathematical disabilities in children with 22q11.2 Deletion Syndrome (2006) (1)
The association of hemifacial microsomia, homolateral micro/anophthalmos, hemihypotrophy, dental anomalies, submucous cleft palate, CNS malformations and hypopigmented skin lesions following Blaschko's lines in two unrelated female patients. Further evidence for a lethal mutation surviving in mosaic (1993) (1)
Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect. (1990) (1)
Micro-array CGH analysis of 4p microdeletions refines the genotype-phenotype map of the region and pinpoints low copy repeats as susceptibility sites for terminal chromosomal deletions (2004) (1)
Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism. (1990) (1)
Partial trisomy 13: karyotype 46,XY,-6, plus t(13q,6q). (1974) (1)
Neuroblastoma in patients with constitutional chromosomal changes. (1996) (1)
Neuropsychological profile in children with neurofibromatosis 1 (1995) (1)
A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia. (1995) (1)
Complete trisomy 8 in a polymalformed newborn. (1979) (1)
Primary body stalk anomaly in a first trimester fetus. (2004) (1)
[Polycystic renal diseases: morphology and genetic counseling]. (1985) (1)
Genome-wide single cell array analysis for preimplantation genetic diagnosis of a complex chromosomal rearrangement carrier (2010) (1)
Natural history of cognitive and adaptive behavior in young fragile X males and females: A 6-year prospective multicenter study (1997) (1)
A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes. (2011) (1)
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. (1994) (1)
Chromosome aberrations in ageing mentally retarded persons: a challenge for the clinician (2007) (1)
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. (1996) (1)
The fragile-X syndrome after the discovery of the FMR-1 gene. The clinical geneticist faced with the unravelled enigmas and persisting difficulties in genetic counseling. (1992) (1)
Dysmorphology in literature: describing is not condoning. (2003) (1)
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. (2002) (1)
Fragiele-X Screeningslijst (2020) (1)
Trisomy 9p and triploidy: the changing phenotype with age, psychological profile and speech development (1996) (1)
Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome (2006) (1)
A challenge for the clinician: recognition of syndromes in older institutionalised mentally retarded patients (2006) (1)
Prenatal diagnosis of 4p deletion with aortic valve stenosis (2010) (1)
Multiple congenital anomalies syndrome with multicystic renal dysplasia, postaxial polydactyly and lumbosacral meningocoele. Difficulties in nosological classification and genetic counseling. (2002) (0)
Pallister-Killian syndrome: A challenging diagnosis (1996) (0)
CGH microarray: a new powerful method for total genomic screening (2005) (0)
Localisation ofa new gene fornon-specific mental retardation toXq22-q26(MRX35) (1996) (0)
Aging in fra(X) males (2001) (0)
Mohr-Majewski spectrum (2007) (0)
Psychosocial problems and need for information in parents of a child with Angelman syndrome (1996) (0)
Myotonic dystrophy in children: a clinical and psychological profile (1996) (0)
Autism and mental retardation are the main features of the 22q13 microdeletion syndrome (2008) (0)
Neurobehavioural deficits in 11 children (2-12 years) with 22q11.2 duplication (2010) (0)
ARX mutation in a boy with mental retardation, transsphenoidal encephalocele, agenesis of the corpus callosum and anterior pituitary deficiency: broadening the clinical spectrum (2004) (0)
Comparison of 1 Mb BAC array and 105K oligo array in a clinical diagnostic setting (2009) (0)
A novel genomic disorder at 16p13.11: Where is the syndrome? (2007) (0)
Behavioural phenotype in Prader-Willi syndrome: 15 years of experience (2000) (0)
Familial juvenile hyperuricemic nephropathy (FJHN), molecular analysis of 23 families, identification and functional consequences of 6 uromodulin mutations (2005) (0)
The Leuven study: clinical features in boys with a Fra X mutation (2005) (0)
The genetic basis of orthopaedic malformations (2004) (0)
Oro-dental phenotype of Prader-Willi patients (2006) (0)
Author's response to the letter by Ogawa et al. (2011) (0)
Diagnosis of an asymptomatic uterine rupture in a twin pregnancy with four-dimensional ultrasound examination and magnetic resonance imaging (2007) (0)
Mosaicism for a double autosomal trisomy in hypomelanosis of Ito (1996) (0)
Genetic linkage analysis in nonspecific XLMR: Mapping of the MRX49, MRX50 and MRX51 loc (1997) (0)
Aarskog syndrome, cleft palate and autism – a novel microdeletion syndrome (2010) (0)
Identification of a new gene involved in a severe variant of Rett syndrome (2004) (0)
Cognitive and psychosocial findings in a family with renpenning syndrome (2004) (0)
Screening for genetic conditions in a population of children with learning disabilities (1996) (0)
Behavioural phenotypes: Etiological based behavioural research (1995) (0)
Trisomy 15rescuewithjumping translocation of distal 15qinPrader-Willi syndrome (1997) (0)
Turner's syndrome: Medical and psychological aspects (1995) (0)
Molecular karyotyping reveals 12% submicroscopic imbalances n a selected group of institutionalized patients with idiopathic mental retardation (2006) (0)
Differences in social-emotional development between a group of children with Prader-Willi syndrome and a normal control group (1996) (0)
Interpretation of array cgh recurrent micro-deletions/duplications: 16p13.11 as example (2008) (0)
The Nicolaides-Baraitser syndrome: description of five additional patients (2011) (0)
Anogenital malformation with ambiguous genitalia mimicking “the elephant trunk-like image” on prenatal ultrasound (2005) (0)
Different sizes of the duplicated region in partial proximal trisomy 10q syndrome might be caused by rearrangements affecting intrachromosomal repeats (2006) (0)
Behavioural and emotional problems, personality profiles, and family contexts of children and adolescents (1996) (0)
Toilet training in Angelman syndrome (1997) (0)
Cenani-Lenz syndrome in a father and son (1996) (0)
ZNF462 mutations cause syndromic intellectual disability with ptosis and distinct craniofacial anomalies (2017) (0)
Genome-wide expression studies in 14 patients with microdeletion 5q14.3 syndrome - A novel tool for the systematic study of functional interactions and pathways (2013) (0)
The diagnostic odyssey of Kabuki syndrome: a never ending story? (2016) (0)
Autism and pervasive developmental disorders: A study of 10 institutionalised adolescents (1994) (0)
Mutation screening of brain-expressed miRNA in patients with non-syndromic X-linked mental retardation (2006) (0)
The biology of mental retardation: a challenge (2001) (0)
Genome-wide haplotyping of single cells (2009) (0)
Duplications of the MECP2 gene are commonly found in a specific subset of patients with syndromal MR; towards a detailed genotype-phenotype correlation (2006) (0)
Children with sex chromosome tetrasomy and pentasomy (1997) (0)
Personality characteristics in Prader-Willi syndrome (1996) (0)
Nemaline myopathy: a cause of fetal akinesia sequence (1996) (0)
Molecular-phenotypical correlations in young fragile-X males with a "short mutation" at the FraxA-site (1995) (0)
Cognitive and behavioural profile in mildly affected yougn fra-X males (1995) (0)
A recurrent deletion of ZNF630 and SSX6 in Xp11.23: a risk factor for mental retardation? (2007) (0)
Neurocognitive aspects in nonspecific mental retardation: a proposal for phenotyping new XLMR genes (2002) (0)
A cognitive characterization of math impairments in children with 22q11.2 deletion syndrome (2008) (0)
MASA syndrome and X-linked hydrocephalus: review of the clinical spectrum and further data on DNA linkage studies (1994) (0)
The use of array CGH for the detection of genomic imbalances in patients with CDH (2010) (0)
caused by a 22 q 11 deletion . Renal and urological tract malformations (0)
Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome? (1998) (0)
Evaluation of different culture conditions for human mesechymal stem cells derived from second trimester amniotic fluid (2008) (0)
The male face of MECP2: double gene dosage leads to a specific MR phenotype: towards a detailed genotype-phenotype correlation (2006) (0)
Genome-wide SNP-, CNV- and haplo-typing of single human cells (2010) (0)
Distinct and diagnostic "facial gestalt" in X-linked Opitz G/BBB syndrome. (1999) (0)
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15? (2002) (0)
Het Kabuki make up (Niikawa-Kuroki) syndroom: niet alleen in Japan (1994) (0)
On the nosology of X linked mental retardation. Diagnostic pittfals in FMR 1 mutations and the approach of non specific X linked mental retardation (1996) (0)
Array CGH Identifies Novel Recurrent & Non-Recurrent Genomic Imbalances associated with CDH (2011) (0)
The psychological profile in the fragile-X syndrome. The Leuven experience before and after the discovery of the FMR-1 gene (1996) (0)
Lumping X-linked Hydrocephalus (MIM *307000) and MASA syndrome (MIM *303350) (1995) (0)
Intelligence andpsychosocial adjustmentin velocardiofacial syndrome: astudy of37children andadolescents withVCFS (1997) (0)
Lethal malformation syndrome in three siblings. A variable expression of the same entity? (1992) (0)
Correlations between molecular and clinical data in Huntington's disease and implications for predictive testing (1995) (0)
Goldston syndrome revisited (1994) (0)
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome (2008) (0)
Polysomy of the Y chromosome in man. The Leuven experience (1994) (0)
Female pseudohermaphroditism with complete masculinisation of the external genitalia in two siblings. A new entity? (1984) (0)
ArrayCGH analysis detects cryptic chromosomal aberrations in more than twenty percent of patients with idiopathic mental retardation and multiple congenital anomalies (2005) (0)
Microarray technology in PGD (2010) (0)
Novel clinical and molecular findings in patients with noggin mutations (2004) (0)
Molecular karyotyping of two interstitial 10q25 deletions using CGH microarrays (2005) (0)
Positional cloning of three condidate genes for autism: A possible role for neuron vesicle trafficking in the pathogenesis of autism (2004) (0)
Micro/anophthalmus in Goltz syndrome, follow-up of a male from birth to adolescence (1996) (0)
MYT1L, a new candidate gene for non-syndromic intellectual disability (2012) (0)
[Essential osteolysis with carpal and tarsal onset]. (1982) (0)
Duplication of the Xq28 region including GDI and FLNA, but not MECP2, in two families with X-linked mental retardation (2008) (0)
Contents Vol. 24, 2013 (2013) (0)
De novo translocation of chromosome 11 and 15 in a newborn with Prader-Willi syndrome (1989) (0)
Retinal anomalies and Cardio-Facio-Cutaneous syndrome: an additional component of the syndrome? (1995) (0)
Major central nervous system malformation in "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects". (1997) (0)
SES17.02 Behavioural Phenotypes in Different Forms of X-linked Mental Retardation (2000) (0)
Loss of functional ZNF41 in a female patient with a balanced translocation t(X;7)(p11.3;q11.21) and severe mental retardation: evidence for a role for ZNF41 in cognitive development (2004) (0)
De novo microdeletion 17q11.2 detected by using microarray technology in a female child with developmental delay and non syndromic dysmorphic features (2006) (0)
Mandibuloacral dysplasia as a form of idiopathic osteolysis (2005) (0)
Familial inherited microtia caused by amplification of the 4p16.1 olfactory receptor gene cluster (2005) (0)
Mandibuloacral Dysplasia: 28 years follow-up in a female patient (2004) (0)
Evaluation of an X-linked mental retardation resequencing array (2007) (0)
Cephalopolysyndactyly syndrome with agenesis of the corpus callosum: The contribution of array comparative genomic hybridization (2010) (0)
Institutionalised patients and changing physical characteristics (1996) (0)
Partial trisomy of chromosome 21 in an older mentally retarded patient (2005) (0)
Extreme growth failure and kyphoscoliosis as complications of the distal trisomy 10q syndrome. (1992) (0)
Craniofacial anomalies in chromosomal syndromes (1997) (0)
Fetal wastage: molecular basis (2006) (0)
Thrombocytopenia and lobster claw deformity in monosomy 21 (1994) (0)
A male with partial di George syndrome and multiple exostoses: further characterization of a reciprocal 8q/10p translocation (1997) (0)
PA26 is a candidate gene for human heterotaxia: human and zebrafish studies (2004) (0)
Fragile-X carriers: psychopathological findings (1994) (0)
Baraitser-Winter syndrome: delineation of the phenotypic spectrum in a large series of molecularly defined patients (2012) (0)
Phenotype-genotype correlation of patients with 4p chromosomal abnormalities (2005) (0)
In-depth characterization of 14 patients with deletions of 5q14.3-q15: Is MEF2C the whole story? (2011) (0)
A gene for non-syndromic autosomal dominant microcephaly on chromosome 5q35 or 18q22 (2006) (0)
A de novo/microdeletion Xp22.2 in a female patient with a mild presentation of Opitz G/BBB syndrome (2009) (0)
Carnevale and mingarelli syndromes are part of the same entity (2010) (0)
A family with progressive, X-linked complicated spastic paraplegia (1995) (0)
Fertility and infertility in Prader-Willi Syndrome testicular histology in nine males with cryptorchidism (2007) (0)
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene. (1996) (0)
The use of array comparative genomic hybridisation (aCGH) for the detection of genomic imbalances in patients with CDH (2009) (0)
Software Review “London Dysmorphology Database, London Neurogenetics Database and Dysmorphoogy Photo Library on CD-ROM [Version 3] 2001. R.M. Winter, M. Baraitser, Oxford University Press (2002) (0)
Aneuploidy and aneusomy detection in human embryos by array CGH (2007) (0)
Mucosal neuromatasyndrome (MEN typeJIb(III)) (1988) (0)
Attention deficit, impulsivity characteristics and visual perception in biological parents of attention deficit and normal control children (1995) (0)
Audiological and otoscopic results in the velo-cardio-facial syndrome (2003) (0)
Longitudinal data on three patients with ring chromosome 15 (1995) (0)
Genetic examination of individuals with a dual diagnosis of mental retardation and psychosis (2008) (0)
Delicious, healthy and fun: a training programme in eating habits for people with learning difficulties who are overweight (1997) (0)
Mathematical abilities and working memory in primary school children with 22q11.2 deletion syndrome: some preliminary findings (2004) (0)
Genetic linkage exclusion of six candidate loci for the gene causing idiopathic multicentric osteolysis (2004) (0)
Attention deficit hyperactivity disorder: The importance of an intellectual and medical examination (1995) (0)
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes. (2005) (0)
Array-CGH diagnosis of cryptic chromosome aberrations (2008) (0)
The early development in children with Williams syndrome (1996) (0)
Identification of a trisomy 8p by chromosome painting in a mother and her son associated with moderate to severe mental retardation and normal phenotype (1995) (0)
The complex nature of monosomy 1p36 (2007) (0)
Gender-mix and Birthweight-IQ Association - Session: Poster (2004) (0)
Screening of submicroscopic genomic aberrations in patients with X-linked mental retardation by high resolution array-CGH (2005) (0)
High incidence of chromosomal rearrangement sin human pre-implantation embryos of young couples (2008) (0)
William's syndrome - findings in child's temperament; evaluation of medical, psychological and behavioural aspects in adults (1995) (0)
Complex genomic rearrangement in the SMA-region on Chromosome 5q13 in a patient with severe congenital Werdnig-Hoffmann disease (1997) (0)
Unilateral windblown deformity and Proteus syndrome (1995) (0)
Mutation analysis in Belgian familial colorectal cancer kindreds: High proportion of novel mutations in the mismatch repair genes (2000) (0)
A dysmorphic patient with the novo interstitial 3q23-q25.31 deletion delineated by Microarray- CGH (2009) (0)
Feeding and speech disorders in children with VCFS (2000) (0)
Cognitive and behavioural profile in 120 children with NF1, including longitudinal data (1997) (0)
Mutation analysis in Costello syndrome and functional characterisation of the HRAS K117R mutation (2007) (0)
How normal is a normal human embryo (2009) (0)
Iris heterochromia: A variable feature in Verloes–Koulischer‐oral‐acral syndrome (2005) (0)
Clinical andMolecular Characterization ofPatients withDistal IIq Deletions (1995) (0)
The fragile-X phenotype after the discovery of the FMR-1 gene (1994) (0)
Genotype-phenotype correlation by fish and microarray cgh in atypical Wolf-Hirschhorn patients (2004) (0)
Limb and scalp defects, Adams-Oliver type, hemiplegia and severe CNS anomalies on nuclear magnetic resonance imaging (1995) (0)
Metachondromatosis and multiple exostosis type i: a clinical spectrum (2005) (0)
Copy number variations shape human brain: The contribution of the array-CGH in the understanding of the genetic bases of congenital brain malformations and cognitive disorders (2012) (0)
Linkage analysis in nonspecific X-linked mental retardation (1995) (0)
[Prune belly syndrome, a secondary urethral functional obstruction due to prostatic hypoplasia]. (1984) (0)
9p-syndrome associated with esophageal atresia (2007) (0)
Van genen naar gedragsfenotype: syndroom-diagnostiek (1994) (0)
Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication. (1999) (0)
Variable clinical findings in GLI3 morphopathies (2002) (0)
The predictive DNA-test for Huntington's disease: an overview of the test requests in Flanders and some illustrations of the psychological complexity (1994) (0)
Prenatal diagnosis by direct FISH on chorionic villi of duplication of 12 (pter-11.21) combined with deletion of 6(q27) due to a familial balanced reciprocal translocation (2007) (0)
A de novo 305 kb interstitial dup(3)(p25.3) encompassing the VHL and IRAK2 genes in a patient with mental retardation/ multiple congenital anomalies, epilepsy, spasticity and ectomorphic habitus (2009) (0)
Personality phenotypes of children and adolescents with Williams, Prader-Willi, and Fragile-X syndrome compared with matched groups in regular schools (1995) (0)
Detection of low grade mosaics by array CGH (2005) (0)
L1CAM and X-linked hydrocephalus (2004) (0)
Partial DiGeorge syndrome in two patients with rearrangement in distal chromosome 10p: evidence for a DiGeorge critical region III (1999) (0)
Pragmatic language skills in WS, VCFS, PWS and Fra-X syndrome: an explorative study (2004) (0)
The floating harbor syndrome (1996) (0)
Physical activity patterns in youngsters with 22q11.2 (2013) (0)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Microdeletions and Molecular Genetics (2006) (0)
Congenital pulmonary lymphangiectasis in two female half-siblings (2006) (0)
Allo-immune Thrombocytopaenia (2008) (0)
Cognitive correlates of math disability in children with 22q11.2 Deletion Syndrome (2006) (0)
Studies of three candidate genes suggests that errors in the regulated secretion pathway may underlie autism (2006) (0)
The psychosocial impact of predictive testing for Huntington's disease, five years after the test result (2000) (0)
Pfeiffer syndrome: two sporadic patients with cloverleaf skull (1996) (0)
architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental (2008) (0)
Array CGH for the Identification of Genomic Imbalances Associated With Congenital Diaphragmatic Hernia & Prenatal Congenital Anomalies (2010) (0)
JARID1C, a novel gene involved in X-linked mental retardation, is frequently mutated (2005) (0)
A submicroscopic 5q11.2 deletion in a girl with autism, mild (2008) (0)
Reproductive decisions in asymptomatic carriers of the Huntington-mutation (2006) (0)
Clinical and diagnostic evaluation of a population of MR patients livinv in foster families (1997) (0)
Perinatal and neuro-developmental outcome of triplets: a population-based approach (2014) (0)
Should we screen for the Fragile-X permutation in the older population presenting with ataxia? (2005) (0)
INVITED SESSION, SESSION 42: PARAMEDICAL INVITED SESSION – EMERGING TECHNOLOGIES IN HUMAN IVF LABORATORIES, Tuesday 5 July 2011 14:00 – 15:00 (2011) (0)
On the nosology of the craniodigital syndromes: Scott syndrome versus Filippi syndrome (1996) (0)
Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome? (1994) (0)
Personality phenotypes of children and adolescents with Prader-Willi syndrome (1995) (0)
Behavioural aspects in children with Wolf-Hirschhorn syndrome (1997) (0)
Achalasia of the upper oesophageal sphincter in children with velo-cardio-facial syndrome (1999) (0)
Microdeletion 2q31-redefining the correlated clinical phenotype (2005) (0)
Genomics of MECP2 duplications (2008) (0)
Microdeletion 2p15-16.1 syndrome: report of three further patients identified by array-CGH (2011) (0)
Clinical phenotype in noonan syndrome patients with SOS1 mutations (2008) (0)
Clinical features of 80 adults with the Velo-Cardio-Facial syndrome with an emphasis on the psychiatric diagnoses (2009) (0)
Chromosome 15: there is more than Prader-Willi and Angelman syndrome (1996) (0)
[Balanced chromosome abnormalities with abnormal phenotype]. (1988) (0)
The oculo-digito-esophago-duodenal (oded) syndrome and bilateral epibulbar dermoids (2004) (0)
Megadolichosigmoid in a young male with Aarskog syndrome. (1994) (0)
Severe Vertebral anomalies in a patietn with Holt-Oram syndrome and a TBX5 sequence variation (2004) (0)
Microdeletions and microduplications in adults with intellectual disability and a psychiatric disorder (2012) (0)
Three novel candidate genes for autism are involved in regulated secretion: a possible role for neuron vesicle trafficking in the pathogenesis of autism (2006) (0)
Williams syndrome: Medical and psychological data, behavioral aspects and temperament (1994) (0)
Prenatal diagnosis in neurologic disease (1999) (0)
Combined single-cell FISH and arrayCGH show that segmental aneuploidies do occur in embryos (2009) (0)
Opitz-Kaveggia (FG) and Lujan syndromes are allelic having mutations in the MED12 gene (2007) (0)
Chromosome 6p21.32 microdeletion: an ideal anomaly (2011) (0)
Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11 (1997) (0)
Neurofibromatosis type 2 in two patients with chromosomal abnormalities of chromosome 22 (2010) (0)
[Sexual ambiguity and non-fluorescent Y chromosome in 45,X/46,XY mosaicism]. (1986) (0)
The RAB-binding protein synaptotagmin-like 5 (SYTL5), interrupted in an MR patient, is not involved in the MR phenotype (2004) (0)
Tricho-rhino-phalangeal syndrome type I as a "cis -ruption disorder " caused by a translocation (2011) (0)
How to deal with hypodontia and oligodontia in genetics (2010) (0)
Expression of the fragile-X in the "premutated"/"non-imprinted" state. (1992) (0)
"Genetic counseling": a "new" discipline with increasing impact on individuals, families and society. (1990) (0)
Genetic counseling and mental retardation: the role of special education in a multidisciplinary approach. (1992) (0)
Prenatal growth retardation, microphtalmos/iriscoloboma/cloudy cornea, urogenital anomalies, bird-headed dwarfism in three siblings: a 'new' autosomal recessive (sub)lethal MCA syndrome (1996) (0)
Microcephaly associated with a familial balanced translocation t(5;18)(q35.2;q22.3):gene expression studies in lymphoblastoid cell‐lines. (2011) (0)
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect (2005) (0)
The cognitive cost of being a twin girl (2017) (0)
Pre-implantation genetic selection against balanced translocations (2011) (0)
Clinical aspects in cowden syndrome patients (2004) (0)
Complex genomic architecture at xq28 results in duplication of mecp2 commonly found in a specific subset of MR patients (2007) (0)
Attachment under pressure in genetic syndromes (2004) (0)
Invited lectures abstracts (2011) (0)
Microdeletions in the COH1 gene as a cause of Cohen syndrome (2008) (0)
[Slight mental handicap and procreation. Knowledge and practice in 15 slightly mentally handicapped women]. (1986) (0)
Delicious, healthy and fun: A training programme in eating habits for the mentally disabled with overweight (1996) (0)
Intelligence profile of females with the fra(X) mutation compared to sisters without (1995) (0)
Jackson-Weiss syndrome (2020) (0)
Neuropsychopathology in patients with SHANK 3 haploinsufficiency: presence of bipolar disorder and progressive loss of skills (2012) (0)
Volume 1 and 2 Reviewers (2005) (0)
The 36th American Cytogenetics Conference (2000) (0)
Focal facial dermal dysplasia: congenital, bilateral vesucilar facial lesions with a linear and symmetric distribution (2005) (0)
Two siblings with postaxial polydactyly, a congenital heart defect, ectopic pituitary gland and distinct facial features. A new entity? (2005) (0)
Child psychiatric problems in children with Velo-Cardio-Facial syndrome (1999) (0)
Behavioural problems, social development, executive functioning and sensory stimuli processing in girls with 47,XXX syndrome (2012) (0)
Behaviour and psychiatric problems in children with Prader-Willi syndrome (2007) (0)
Pure de novo 17q25.3 micro duplication characterised by micro array cgh in a dysmorphic infant with developmental delay, distal arthrogryposis and heart ASD (2010) (0)
A de novo duplication 9q34 syndrome in a girl with severe mental retardation, epilepsy, Marfanoid syndrom and Lipodystrophy (2009) (0)
Structural variation of chromosomes in individuals with autism spectrum disorders (2012) (0)
Social-emotional characteristics of adult mentally retarded men with fragile (X) syndrome (1993) (0)
Turner's syndrome: Medical aspects (1995) (0)
The Matthew-Wood syndrome revisited (2009) (0)
Axenfeld-rieger patients: does the dental and ophthalmic phenotype reflect the molecular diagnosis? (2008) (0)
An unstable intermediate allele in a family with the fragile X syndrome (2005) (0)
The acrofacial dysostoses: a wide spectrum of overflapping phenotypes with etiological heterogeneity (2005) (0)
An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome features (2009) (0)
Fragile-X syndrome. A review (1990) (0)
An Xp22.33 duplication flanking the pseudoautosomal region translocated on Yp11.2 (2010) (0)
A link between the MSX2 gene and the Adams Oliver syndrome (2012) (0)
Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay: a 4p deletion? (1993) (0)
4p16 olfactory receptor gene cluster is a promiscuous hotspot for chromosomal rearrangements (2007) (0)
Three candidate genes for autism with a possible role in neuron vesicle trafficking (2004) (0)
Origin of constitutional mosaicism for segmental aneusomy (2011) (0)
Fragile-boys: Longitudinal data on the evolution of their mental age during childhood (1994) (0)
Preimplantation genetic diagnosis for a patient with karyotype 46,XX,ins(14;2)(q21;q31q35) (2004) (0)
Speech and language characteristics in Prader-Willi syndrome (2000) (0)
Disruption of ARHGEF9 is associated with cognitive deficits: identification oa a new candidate for x-linked mental retardation (2006) (0)
Acrofacial dysostosis, type Rodriguez. Another case report and literature review (2004) (0)
Autism spectrum disorders, delusions and overvalued ideas in juvenile myotonic dystrophy (2006) (0)
Maternal uniparental disomy for chromosome 15 and jumping translocation of distal 15q in a patient with the Prader-Willi syndrome: A molecular and cytogenetic analysis (1996) (0)
ArrayCGH detects mosaics in similar to 4% of patients with MR/CA (2005) (0)
9p terminal deletion and genetics of trigonocephaly (2006) (0)
Psychoses chez les patients avec le syndrome de Prader-Willi (2005) (0)
Interstitial deletion of chromosome 2q31-33: clinical and molecular findings in three patients (2004) (0)
Quantitative syndrome definition for translocation forms of monosomy 4p16.1-pter together with trisomy 8p23.1-pter (2013) (0)
High frequency of copy number alterations in patients with congenital eye malformations (2010) (0)
The fetal hypokinesia deformation sequence: case reprot with follow up and cytogenetic finding (2005) (0)
Catel-Manzke digitopalatal syndrome in a second trimester female foetus (1995) (0)
Psychological consequences of presymptomatic testing for Huntington's disease (1997) (0)
Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son. (1988) (0)
Syndromes of dysmorphism (2003) (0)
Fragile-X syndrome: Presentation of a videofilm (1996) (0)
Duplications of the MECP2 region are commonly found in a specific subset of MR patients; towards a detailed genotype-phenotype correlation (2006) (0)
Research data on cognitive and behavioural characteristics in families with non-specific mental retardation (2000) (0)
Unusual cytogenetic findings in two female patients with the Prader-Willi syndrome (1996) (0)
Personality phenotypes of children and adolescents with Fragile-X syndrome (1995) (0)
Prenatal diagnosis: the challenge of technology versus humanity (1997) (0)
Combined approach of MLPA and array CGH for the identification of genomic rearrangements encompassing and located outside the SHOX transcription unit (2006) (0)
CHARGE syndrome: The phenotype in patients with and without CHD7 mutations (2005) (0)
Penile agenesis as an isolated malformation: a rare example of sexual ambiguity at birth. (2000) (0)
Neuropsychological characteristics of children with VCFS: evidence for a non-verbal learning disabiltiy? (1999) (0)
The nosology of X-linked mental retardation and neurologic features: a nosologic approach (1995) (0)
Characterization of the breakpoints of a de novo translocation t(x;9)(p11.23;q34.3) in a mentally retarded female: a novel mrx gene? (2004) (0)
Marital relations, parental support, and personality phenotype of children and adolescents with fragile-X and Williams syndrome (1995) (0)
The use of array CGH for the detection of genomic imbalances in patients with congenital diaphragmatic hernia (2010) (0)
A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia: evidence for autosomal recessive inheritance. (1998) (0)
Genomic rearrangements encompassing and located outside the SHOX transcription unit identified using MLPA and a newly developed qPCR assay (2009) (0)
Mental retardation-related gene duplications: more common than expected? (2006) (0)
Hyperextension of the fetal head with sinus bradycardia in 22q11 deletion. (2009) (0)
Coping with Twins Discordant for Intellectual Disabilities: The Mothers' View (2002) (0)
Prenatal Diagnosis of Smith–Lemli–Opitz Syndrome (2008) (0)
Clinical follow up of a girl with “mental retardation with pterygia, shortness and distinct facial appearance” (Haspeslagh syndrome) (1995) (0)
421: High cell density protocol for isolation and expansion of amniotic fluid-derived mesenchymal stem cells (2011) (0)
Congenital macrocephaly/hydrocephaly, syndactyly 4-5, mental retardation - a new syndrome? (2005) (0)
Preliminary finding in boys with Fra X permutation. 7th SSBP International Research Symposium (2004) (0)
The emerging brain phenotype associated with mutations in the TUBA1A gene (2008) (0)
Mosaic trisomy 15: long term follow-up data in three patients (2006) (0)
A novel microduplication detected by array-cgh in a familial epilepsy associated with hypotonia, mental retardation and behavior disorders (2008) (0)
Unusual clinical phenotype in a patient with deletion of the downstream regulatory region of pax6 (2009) (0)
Unusual clinical features in a patient with autosomal recessive form of multiple epiphyseal dysplasia extending the phenotype of this entity (2005) (0)
. Contribution of genetic factors to learning-problems: report of a systematic survey of four schools for special education for children and adolescents (1995) (0)
Common genetic syndromes and challenges in diagnosing associated psychiatric disorders (2012) (0)
Search for mutations causing non-syndromic X-linked mental retardation (NS-XLMR) by high-throughput PCR based sequencing and mRNA expresssion profiling of candidate genes on prosimal Xp (2004) (0)
Thanatophoric dwarfism. (1978) (0)
The long-chain fatty acid-coa ligase 4 (FACL4) gene is mutated in family MRX68 (2004) (0)
Autosomal fragile sites. Their contribution to human pathology (1997) (0)
Ulnar dysplasia is caused by a duplication of the HOXD cluster on chromosome 2q31 (2014) (0)
O3: Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening (2005) (0)
Progressive, X-linked complicated spastic paraplegia in a family (1996) (0)
A study of candidate genes for dominant non-syndromic microcephaly in a family with inherited chromosomal translocations t(5q35.2;18q22.3) (2007) (0)
Mutation analysis of doublecortin, lis 1 and ARX in syndromal forms of mental retardation associated with cortical dysgenesis (2004) (0)
Preliminary findings on the physical activity in young adolescents with the 22q11.2 deletion syndrome (2008) (0)
THE VELOCARDIOFACIAL SYNDROME THE PRADER-WILLI SYNDROME AND THE ANGELMAN SYNDROME NEUROFIBROMATOSIS THE WILLIAMS SYNDROME (2011) (0)
Microphtalmia, retinal coloboma and an unusual pattern of hair growth in the neck: a novel autosomal dominant condition (2011) (0)
MCA/MR syndrome with bilateral ablepharon of the upper eyelids, ambiguous genitalia, facial and skeletal anomalies. (2002) (0)
Presentation of a fragile-X screening list (1996) (0)
A full coverage high-resolution X-chromosome array for the detection of submicroscopic genomic copy number changes in patients with mental retardation (2005) (0)
A gene for congenital urological malformatons on chromosome 6p (1995) (0)
Esophageal atresia with tracheoesophageal fistula, anal atresia and atrioventricular septal defect (2007) (0)
Severe progressive osteogenesis imperfecta due to homozygosity by descent for a mutation in the COL1A2 gene (1996) (0)
ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation (2006) (0)
Terminal chromosome 4p deletions are stabilized by direct addition of telomere repeats (2010) (0)
Identification of PTEN/MMAC1 germline mutations in Cowden disease patients. (1997) (0)
A duplication of the distal segment of 22q in a patient with mental retardation, microcephaly and mild facial dysmorphism (2007) (0)
The Use of Array CGH for Prenatal Diagnosis of Fetuses with Congenital Malformations detected by Ultrasound (2011) (0)
A de novo mosaic supernumerary marker derived from chromosome 16 (2002) (0)
Congenital brain malformations and cognitive disorders : the contribution of the array-CGH in understanding how copy number variations shape our brain (2011) (0)
X-linked Mental Retardation (1981) (0)
Genes, generations and society: Human heredity. An educational video film (1996) (0)
A Case of Holoprosencephaly and 13q Deletion (2009) (0)
Myopia as the first clinical sign in a prenatal onset overgrowth syndrome (1994) (0)
Impact of the predictive test result: The year after (1995) (0)
Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. (1998) (0)
Detection of an unusual 17p13/3 microdeletion by array-CGH in a patient with lessencephaly (2006) (0)
Larsen syndrome and mental retardation: Report of three new cases (1996) (0)
Screening of a cohort of 100 male XLMR patients using a new full coverage chromosome X exon-specific array (2009) (0)
Interstitial de novo del(1)(q25.1q31.3): clinical presentation and molecular description with array-CGH (2009) (0)
Down syndrome: Presentation of a videofilm (1996) (0)
A novel XLMR gene identified through array CGH (2005) (0)
Genomic rearrangements encompassing and upstream of SHOX identified using (2008) (0)
Evidence for coincident telomere capture and neo-telomere formation in the healing of constitutional chromosome imbalances (2007) (0)
Typical abnormal behaviour in a child with Smith-Magenis syndrome (del17p11.2) (1995) (0)
Velocardiofacial syndrome (VCFS): An im¬portant syndrome to recogni¬ze, caused by a mi¬cro¬de¬le¬ti¬on of chro¬mo¬some 22q11 (1997) (0)
Velo-facio-skeletal syndrome versus Aarskog syndrome. (1996) (0)
Chromosomal anomalies in 4 children with autism: Breakpoints and 1 gene (2002) (0)
A 2.2Mb microduplication in 1q42.2 including DISC1 in 2 brothers with autism and mild mental retardation (2009) (0)
Presenting symptoms, clinical features and anthropometric data in 126 patients with the velo-cardio-facial syndrome (1999) (0)
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21). (2008) (0)
Genetic mapping of the 3MC syndrome: identification of underlying mutations in the lectin complement pathway genes COLEC11 and MASP1 and discovery of a novel paradigm in developmental genetics (2012) (0)
Determining written-educational packages effectiveness on Prader-Willi syndrome for parents (1995) (0)
Pitt-Hopkins syndrome: TCF4 mutation in a proband and in his mentally retarded brother. First example of germline mosaicism? (2010) (0)
The Leuven experience in CATCH 22 syndrome (1996) (0)
Follow-up of three brothers with a K.B.G.-like MR/MCA syndrome (1995) (0)
The Nance-Horan syndrome: still underdiagnosed? (2007) (0)
A "new" epi-metaphyseal skeletal dysplasia in four members of a family. (1989) (0)
New gene for ectodermal dysplasia and oligodontia (2012) (0)
Clinical features in patients with mutations in JARID1C (2005) (0)
Molecular karyotyping - novel powerful tool for gene identification (2006) (0)
Genetic and environmental influences on the covariation between hyperactivity and deliquency/aggression scores on the CBCL (1997) (0)
Rubinstein-Taybi-like syndrome: clinical and molecular genetics delineation (2012) (0)
On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. (2000) (0)
Severe digital abnormalities in a patient heterozygous for mutations in both HOXD13 and HOXA13 (2001) (0)
O5: Characterization of subtle copy number changes on the X chromosome identified in 7% of patients with X-linked mental retardation by high-resolution array-CGH (2005) (0)
Chromosomal and MCA/MR syndromes when patients get older. The changing phenotype with age (1995) (0)
A novel microdeletion detected by array-cgh in an infant with lissencephaly (2007) (0)
[Unmanageable hair syndrome associated with epilepsy, deafness and phalangeal aplasia, or William's syndrome?]. (1988) (0)
SYCP3 mutations are not common in patients with recurrent pregnancy loss (2010) (0)
A microdeletion of the X chromosome is the probable cause of non-specific mental retardation in a Belgian family (1995) (0)
Transcriptional effects of mutations in the XLMR gene JARID1C (2007) (0)
Comparative genomic hybridisation and next-generation sequencing: powerful tools to investigate chromosome number and structure in human embryos (2011) (0)
Cognitive and behavioural aspects in essential microcephaly (1997) (0)
A genetic study of problem behaviour in childhood (1995) (0)
Human embryo chromosomal imbalances detection by array CGH (2006) (0)
A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism (2008) (0)
Familial microdeletion/microduplication 16p11.2-p12.1: further clinical and molecular delineation (2011) (0)
Nemaline myopathy: from fetus to eldery woman. Fifteen cases with a review of recent molecular genetic findings (1999) (0)
Prenatal Array CGH Identifies Genomic Imbalances Associated With Congenital Diaphragmatic Hernia (CDH) (2012) (0)
Clinical and molecular approaches of chromosomal syndromes: The Leuven experience in catch 22 syndrome (1997) (0)
Cryptic chromosome anomalies in 43 out of 220 subjects with MCA/MR: suggested diagnostic strategy (2006) (0)
Contralateral vascular malformation of carotid artery in a patient with hemifacial microsomia (1994) (0)
Widening the phenotype of WAGR syndrome and defining a new locus for preaxial polydactyly (2006) (0)
A new familial case of Gollop-Wolfgang syndrome confirming an autosomal recessive mode of inheritance (2006) (0)
Evaluation of Prader-Willi audio-visual educational programme effectiveness (1995) (0)
Neurocutaneous Disorders: Coffin–Siris syndrome: clinical delineation; differential diagnosis and long-term evolution (2004) (0)
A cryptic duplication of the distal segment of 22q in a patient with mental retardation, microcephaly and mild facial dysmorphism (2008) (0)
Detection of a complex chromosomal aberration in a dysmorphic patient by multicolor FISH and microarray CGH (2006) (0)
Chromosome bands and ends revisited (2003) (0)
Mental Status ofFemales withan FMR1GeneFullMutation (1996) (0)
Costello syndrome: severe postnatal growth failure associated with a clinically recognisable pattern of clinical symptoms and signs (1995) (0)
A 2.2Mb 1q42.2 Microduplication Including DISC1 in 2 Brothers with Autism and Mild Mental Retardation (2009) (0)
The clinical spectrum of X-linked hydrocephalus (MIM *307000) complicated spastic paraplaegia MIM 312900 (and MASA syndrome) MIM *303350 (data on DNA linkage studies and L1CAM mutations) (1995) (0)
An updated map of the genomic copy number variants in patients with congenital eye malformations (2009) (0)
Premature ovarian failure in a 17-year old female compound heterozygous for the FMR1 premutation (2007) (0)
Selective sparing of neuronal subpopulations in the striatum in glutaric aciduria type 1 (2006) (0)
The cleavage stage embryo is the cradle of chromosomal rearrangements (2010) (0)
Incontinence in Angelman syndrome: A sample survey study (1997) (0)
Oligodontia in partial trisomy 9q syndrome. (2006) (0)
Construction and validation of array-cgh for the detection of microdeletions and –duplications in mr patients (2004) (0)
Psychological problems and need for information in parents of a child with Prader-Willi syndrome (1996) (0)
Trisomy 12p due to familial t(12p-,6q plus) translocation. (1974) (0)
Motor development in children with a deletion 22q11 syndrome: an explorative study (1) (2006) (0)
Speaking without words: Angelman's syndrome (1997) (0)
GJA1 mutations in patients with oculo-dento-digital dysplasia (2005) (0)
Martin-Bell phenotype in males with acquired central nervous system lesions. 15 males diagnosed during a systematic etiological study of 274 mentally retarded males. (1990) (0)
8-trisomy syndrome. (1977) (0)
The behavioral phenotype in children and adolescents with VCFS (del22q11) (2001) (0)
Deliberate decisionmaking versus avoidant behavior in the family: a study in nonparticipants in predictive testing (1998) (0)
563: Effect of evaluation of different culture conditions for human mesenchymal stem cells derived from second trimester amniotic fluid (2007) (0)
O4: Detection of structural low-grade mosaicism by array CGH (2005) (0)
[Lethal skeletal dysplasias: delineation of a new distinct entity with spondylocostal dysostosis, multiple internal abnormalities and Dandy-Walker cyst]. (1985) (0)
Personality profiles in Prader-Willi syndrome (1996) (0)
Congenital Aural Atresia-Narrowing the Critical 18q22.3-23 locus (2009) (0)
The Prader-Willi Syndrome: the Flemish Model (2005) (0)
Ichthyosis - cleft palate - mental retardation: case report and nosological considerations (1995) (0)
Clinical and molecular approaches of chromosomal syndromes (1997) (0)
outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion (2009) (0)
Rubinstein-Taybi-like syndrome: the contribution of array-based comparative genomic hybridization (aCGH) (2010) (0)
Clinical and genetic studies in three families with XLMR and spastic paraplegia (1997) (0)
Somatic variation in early development (2011) (0)
Array CGH, the double-edged result: the explanation but also an unexpected prediction (2010) (0)
A de novo inverted duplication 10q11q24 in a girl with severe dwarfism, mental retardation and Pierre Robin syndrome (2010) (0)
High resolution Agilent 244K oligoarray CGH analysis for screening of patients with congenital eye malformations (2008) (0)
Attention deficit disorder: een multidisciplinaire nosologische benadering (1992) (0)
Autosomal dominant pre- and postnatal growth deficiency with mild microcephaly (1995) (0)
L1CAM and X-linked Hydrocephalus (L1 syndrome) (2016) (0)
Screening of ARX in 414 families with X-linked mental retardation and report of the first maternal somatic mosaicism for the ARX gene (2005) (0)
Human-mouse somatic cell hybrids: a method to study positional effect on gene expression by chromosomal translocations (2007) (0)
Problem behaviours and Prader-Willi syndrome (1997) (0)
Microcephaly, short stature, hypogonadism and mental retardation in males: renpenning syndrome (2004) (0)
Prenatal Diagnosis of Anterior Encephalocele (2010) (0)
Ring chromosome 15 syndrome. (1979) (0)
Myotonic dystrophy in children and adolescents: a neuropsychological and child psychiatric study (1996) (0)
Predictive testing for Huntington's disease: Psychological distress and coping strategies in partners of tested people (2005) (0)
Expression profiling of 4p terminal deletions suggest that telomere position effects may contribute to disease phenotypes (2008) (0)
The velo-cardio-facial syndrome (VCFS): Psychological behavioural and language profiles of 25 patients with VCFS (1995) (0)
using DNA probes . features and linkage analysis MASA syndrome : new clinical (0)
Novel genomic imbalances in familial epilepsy syndromes: implications for genetic counseling (2011) (0)
Some observations of Cross syndrome differences (1996) (0)
A new autosomal dominant syndrome with multiple café-au-lait spots, freckling and macrocrania (2008) (0)
FOXD1 duplication causes branchio oculo facial-like syndrome (2012) (0)
Giant platelets in velo-cardio-facial syndrome (1999) (0)
. Parental behaviour and family context in Prader-Willi, FragilX and Williams syndrome children (1996) (0)
Diagnostiek en Genetica (1999) (0)
X-Linked Mental Retardation and Fragile X (q27): Pitfalls and Difficulties in Diagnosis and Genetic Counselling (1988) (0)
Medication in adults with Prader-Willi syndrome: Case reports (1996) (0)
Visual information processing in adult female fragile X carriers (1995) (0)
Duplication of the short arm of chromosome 8: A clinically recognizable syndrome (1994) (0)
Array-comparative genomic hybridization: a novel tool in genetic diagnosis of individuals with congenital heart defects (2008) (0)
NF1 mutations in NF1 related syndromes (1995) (0)
Session 19: Reproduction and Genetics (2010) (0)
Molecular karyotyping is important in determining the cause of behavioural phenotypes (2008) (0)
An X-linked mental retardation resequencing array (2006) (0)
Development and apllication of a full-coverage X-chromosomal BAC array for high-throughout screening of genomic alterations in patients with X-linked mental retardation (2004) (0)
Pre-academic and early academic achievement in children with Velo-Cardio-Facial Syndrome (22q11.2 deletion syndrome) (2003) (0)
. The effects of a preventive and curative self-supporting programme on patients with Prader-Willi syndrome (1996) (0)
The Wolf-hirschhorn Syndrome: Clinical and behavioural aspects (1996) (0)
MCA/MR syndrome with occipital scalp defect and valvular pulmonary stenosis: a cryptic 7pter duplication/18qter deficiency. (2001) (0)
Détection d’aneuploidies à partir d’une cellule unique par la méthode de CGH array (2006) (0)
Economics and ethics in health care: Where can they meet? / Elly stolk, Jan busschbach. Clinical aspects of prenatal diagnosis (2002) (0)
Long term follow-up of Prader-Willi patients with special attention for oro-dental phenotype (2007) (0)
Clincal genetic screening of a population of schizophrenic patients: A research strategy (1997) (0)
Genetics of trigonocephaly (2006) (0)
Deletion 1p36: clinical findings in 6 patients and use of FISH and microarray technology to detect submicroscopic lesions (2007) (0)
Another holoprosencephaly locus at 7q21.2? (1998) (0)
A de novo interstitial del(3q) identified by array comparative genomic hybridization (aCGH) in a patient with Oculocerebral Hypopigmentation Syndrome (2009) (0)
The triad "Microcephaly - chorioretinal dysplasia - lymphoedema" in a male newborn. Are "Microcephaly-lymphoedema" (Crowe syndrome) and "Microcephaly-chorioretinal dysplasia" (MIM 145290) variable expressions of one single entity ? (1995) (0)
Critical Assessment of Microarray Data Analysis Contest Datasets Emerald Dataset : a Microarray Experiment to Study the Relative Magnitudes of Technical and Biological Variation Talks Keynote towards Cracking the Code of Transcription and Chromatin Regulation Analysis of Comparative Genomic Hybridiz (0)
Chromosomal mosaicism limited to fibroblasts and MCA/MR syndrome with fetal hypokinesia of central nervous origin. (1994) (0)
Noonan/CFC syndrome and 12q24, the classical problem of lumping and splitting (1997) (0)
BAC array analysis detects microdeletions on chromosome region 20p12.1 in two unrelated individuals with MR/ MCA syndrome (2010) (0)
Movement disorders in children: the contribution of a clinical genetic diagnostic approach (1995) (0)
Unique case of Sotos Syndrome in an identical twin: Neuropsychological findings of a three year follow-up. Abstract (1999) (0)
Clinicial Report Acrofacial Dysostosis Type Rodrõ ´guez (2005) (0)
Hemimegalencephaly: report of two prenatal diagnoses and review of the literature (2006) (0)
High resolution screening of blastomeres from human embryos (2008) (0)
Prader-Willi Syndrome, housing, and well-being (1996) (0)
Aarskog syndrome: from prenatal features towards postnataldiagnosis (2011) (0)
New findings in the behavioural phenotype of young female fra-X carriers (1995) (0)
Microdeletions and molecular genetics: from clinical phenotype to behavoiural phenotype (2002) (0)

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