Koenraad Devriendt
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(Suggest an Edit or Addition)Koenraad Devriendt's Published Works
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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
- Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
- GATA3 haplo-insufficiency causes human HDR syndrome (2000) (537)
- Practical guidelines for managing patients with 22q11.2 deletion syndrome. (2011) (469)
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome (2010) (464)
- Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. (2000) (416)
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 (2015) (416)
- 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)
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism (2008) (384)
- Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. (1997) (366)
- The annual incidence of DiGeorge/velocardiofacial syndrome. (1998) (331)
- VEGF: A modifier of the del22q11 (DiGeorge) syndrome? (2003) (307)
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes (2007) (295)
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016) (294)
- Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (2007) (283)
- 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)
- Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. (2012) (267)
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (2001) (251)
- Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. (1998) (241)
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015) (229)
- Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (2001) (226)
- FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. (2003) (226)
- Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections (2015) (220)
- Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. (2012) (216)
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome (2012) (215)
- Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. (2001) (206)
- Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan (2012) (202)
- Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. (2007) (198)
- Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (2011) (198)
- 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)
- A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. (2013) (176)
- Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families (2008) (176)
- Guidelines for molecular karyotyping in constitutional genetic diagnosis (2007) (169)
- Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis (2005) (168)
- Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. (2000) (160)
- Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. (2007) (160)
- To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts (2012) (159)
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014) (153)
- Human laterality disorders. (2006) (152)
- MLL2 mutation spectrum in 45 patients with Kabuki syndrome (2011) (140)
- Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. (1997) (139)
- Prenatal and pre-implantation genetic diagnosis (2016) (138)
- Rare variants in NR2F2 cause congenital heart defects in humans. (2014) (138)
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. (2009) (135)
- Clinical and mutational spectrum of Mowat-Wilson syndrome. (2005) (135)
- Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. (2000) (133)
- Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (1999) (129)
- The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism (2003) (127)
- Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) (2007) (125)
- Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (2013) (123)
- Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (1999) (122)
- Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map (2004) (121)
- RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions (2005) (120)
- PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2016) (119)
- Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 (2013) (119)
- Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (2002) (117)
- 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)
- GATA-3 in Human T Cell Helper Type 2 Development (2004) (108)
- Elements of morphology: Standard terminology for the lips, mouth, and oral region (2009) (107)
- 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)
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2014) (101)
- Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management (2015) (99)
- Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls (2011) (99)
- Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. (2012) (98)
- NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects (2007) (98)
- SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. (2010) (95)
- Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (1997) (94)
- Haploinsufficiency of TAB2 causes congenital heart defects in humans. (2010) (92)
- Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. (2014) (90)
- A novel MSX1 mutation in hypodontia (2004) (88)
- An unbiased evaluation of gene prioritization tools (2012) (86)
- Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot (2013) (86)
- Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis (2001) (85)
- Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism (2007) (85)
- Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot (2019) (82)
- Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. (2010) (82)
- Subtelomeric imbalances in phenotypically normal individuals (2007) (81)
- Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis (2007) (81)
- Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay (2000) (79)
- Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2011) (79)
- Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations (2013) (79)
- Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills (2012) (79)
- Diaphragmatic hernia in Denys-Drash syndrome. (1995) (77)
- 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)
- Progressive AV‐block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2‐5 Gene (2002) (77)
- A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies (2007) (77)
- Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. (2017) (76)
- Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. (2004) (75)
- Clinical implementation of NIPT – technical and biological challenges (2016) (74)
- Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome (2011) (73)
- Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH) (2002) (73)
- Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. (1999) (72)
- Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. (2005) (71)
- A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? (2006) (71)
- Network Analysis of Differential Expression for the Identification of Disease-Causing Genes (2009) (70)
- ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder (2017) (70)
- Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (1999) (68)
- Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study (2005) (68)
- Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations (2005) (65)
- Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients (2011) (65)
- The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. (1998) (64)
- Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion (2020) (64)
- Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects (2011) (64)
- Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern (2016) (64)
- Fetal surgery is a clinical reality. (2010) (63)
- Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations (2009) (62)
- Interstitial telomeric sequences at the junction site of a jumping translocation (1997) (60)
- Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis (2016) (59)
- Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. (2013) (58)
- Velocardiofacial Syndrome Patients with a Heterozygous Chromosome 22q11 Deletion Have Giant Platelets (1998) (58)
- Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example (2013) (58)
- What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH) (2007) (57)
- Mathematical disabilities in children with velo-cardio-facial syndrome (2007) (57)
- Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing (2018) (56)
- A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum (2010) (56)
- Arterial tortuosity syndrome: 40 new families and literature review (2017) (56)
- Clinical and molecular genetic features of congenital spinal muscular atrophy (1996) (55)
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. (2015) (55)
- Chromosome 22q11 deletion presenting as the Potter sequence. (1997) (55)
- Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care (2018) (54)
- 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)
- Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. (2015) (52)
- A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. (1997) (52)
- Hydatidiform mole and triploidy: the role of genomic imprinting in placental development. (2005) (52)
- Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. (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)
- Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice (2013) (50)
- The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. (1999) (50)
- Renal and urological tract malformations caused by a 22q11 deletion. (1996) (50)
- A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay (2008) (49)
- Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome (2009) (49)
- Further delineation of the KAT6B molecular and phenotypic spectrum (2014) (49)
- Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome (2001) (49)
- Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator (2016) (49)
- Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH) (2010) (48)
- NPHP4 Variants Are Associated With Pleiotropic Heart Malformations (2012) (48)
- The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigrees (1997) (48)
- Narrowing the critical deletion region for autism spectrum disorders on 16p11.2 (2011) (48)
- Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene (2010) (48)
- Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma (2001) (47)
- The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects (2015) (47)
- Transcription factor GATA 3 and the human HDR syndrome (47)
- Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation (2008) (47)
- Novel syndromic form of X-linked complicated spastic paraplegia. (2000) (46)
- Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome) (2007) (46)
- Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 (2009) (46)
- Autosomal recessive primary microcephaly due to ASPM mutations: An update (2018) (46)
- The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2009) (45)
- Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes‐Brocks syndrome (2006) (45)
- Clinical delineation of the PACS1‐related syndrome—Report on 19 patients (2016) (45)
- PEDIA: prioritization of exome data by image analysis (2018) (44)
- Chromosomal Anomalies in Individuals with Autism (2004) (44)
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks (2012) (44)
- Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients (2016) (44)
- Outcome of publicly funded nationwide first-tier noninvasive prenatal screening (2021) (44)
- Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia (2011) (43)
- Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330) (1998) (43)
- Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. (2008) (43)
- MEIS2 involvement in cardiac development, cleft palate, and intellectual disability (2015) (43)
- Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. (1996) (43)
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity (2014) (43)
- Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. (2014) (43)
- Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies (2016) (42)
- Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects (2012) (42)
- Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. (2012) (42)
- Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. (2004) (42)
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome (2016) (42)
- Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. (1999) (41)
- Unusual molecular findings in autosomal recessive spinal muscular atrophy. (1996) (41)
- Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). (2005) (40)
- Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. (1997) (40)
- Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. (1998) (40)
- Deletion in chromosome region 22q11 in a child with CHARGE association (1998) (40)
- Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia. (2008) (40)
- Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect (2015) (39)
- 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. (1998) (39)
- De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy (2013) (39)
- The psychopathological phenotype of velo-cardio-facial syndrome. (2002) (39)
- ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation (2003) (39)
- Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. (2005) (39)
- Novel Mutation in the Per-Arnt-Sim Domain of KCNH2 Causes a Malignant Form of Long-QT Syndrome (2005) (39)
- Primary structure of pregnancy zone protein. Molecular cloning of a full-length PZP cDNA clone by the polymerase chain reaction. (1991) (39)
- Familial deletions of chromosome 22q11: the Leuven experience. (1998) (39)
- Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre. (2015) (39)
- Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family (2003) (39)
- Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences (2002) (38)
- A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function (2015) (38)
- Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1 (2012) (37)
- Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. (2013) (37)
- The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? (2013) (37)
- 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)
- Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls (2013) (37)
- Partial DiGeorge syndrome in two patients with a 10p rearrangement (1999) (36)
- Partial duplications of the ATRX gene cause the ATR-X syndrome (2007) (36)
- Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia (2010) (36)
- Collaboratively charting the gene-to-phenotype network of human congenital heart defects (2010) (35)
- Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation (2006) (35)
- The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications. (1998) (35)
- Disclosing incidental findings in genetics contexts: a review of the empirical ethical research. (2013) (35)
- Cohen syndrome: the clinical symptoms and stigmata at a young age (1996) (35)
- Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies (2006) (35)
- Secondary variants – in defense of a more fitting term in the incidental findings debate (2013) (34)
- Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity (2012) (34)
- Vesico-ureteral reflux: a genetic condition? (1998) (34)
- Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome. (1995) (34)
- Identification of dosage‐sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia (2013) (34)
- Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family (2003) (34)
- Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing (2017) (34)
- Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome (2010) (33)
- Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type (2016) (33)
- Novel TBX5 Mutations in Patients with Holt-Oram Syndrome (2007) (33)
- The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2007) (32)
- Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype (2007) (32)
- Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study. (2018) (32)
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
- Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age. (2001) (32)
- 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype (2010) (31)
- Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay (2016) (31)
- Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos (2017) (31)
- Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. (2014) (30)
- Left-ventricular non-compaction in a patient with monosomy 1p36. (2007) (30)
- Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. (1995) (29)
- Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease (2012) (29)
- Cerebellar Hypoplasia in a Patient with Velo‐Cardio‐Facial Syndrome (1996) (29)
- Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. (2005) (28)
- Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome (2001) (28)
- Structure of the human alpha-2 macroglobulin gene and its promotor. (1992) (27)
- Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. (2012) (27)
- Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome (2003) (27)
- Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. (2019) (27)
- The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. (1998) (27)
- From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo (2014) (27)
- Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing (2018) (27)
- Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant (2005) (27)
- Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy (2005) (27)
- IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign (2010) (27)
- Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases (2017) (26)
- Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction (2012) (26)
- Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements (2009) (26)
- Chromosomal phenotypes and submicroscopic abnormalities (2004) (26)
- Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. (2013) (26)
- Platelet studies in autism spectrum disorder patients and first-degree relatives (2015) (25)
- ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism (2004) (25)
- Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. (2004) (25)
- Prenatal and preimplantation genetic diagnosis (2016) (25)
- Metal mining and birth defects: a case-control study in Lubumbashi, Democratic Republic of the Congo. (2020) (25)
- Human piebaldism: six novel mutations of the proto‐oncogene KIT (2002) (25)
- Velo-Cardio-Facial Syndrome a model for understanding microdeletion disorders (2005) (25)
- Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (2002) (25)
- A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system. (2010) (25)
- Mathematical disabilities in young primary school children with velo-cardio-facial syndrome. (2006) (25)
- Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. (2015) (24)
- Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients (2004) (24)
- The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. (2007) (24)
- High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. (2011) (24)
- The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability (2013) (24)
- A microduplication of CBP in a patient with mental retardation and a congenital heart defect (2007) (24)
- Ocular findings in children with a microdeletion in chromosome 22q11.2 (2008) (24)
- Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (24)
- Triplication of distal chromosome 10q (1999) (24)
- Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion (2004) (24)
- Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus (2012) (24)
- Further delineation of the KBG syndrome. (1998) (24)
- Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome (2015) (23)
- The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing (2014) (23)
- Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. (2003) (23)
- Pseudoautosomal Region 1 Length Polymorphism in the Human Population (2014) (23)
- Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and ARHGAP31 mutations (2014) (23)
- Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience (2018) (23)
- BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. (2012) (23)
- Novel PORCN mutations in focal dermal hypoplasia (2009) (23)
- Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism (2008) (23)
- MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients (2006) (23)
- Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report (2010) (23)
- Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment (2015) (23)
- Involvement of a palindromic chromosome 22‐specific low‐copy repeat in a constitutional t(X; 22)(q27;q11) (2002) (22)
- The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations (2018) (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)
- Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease (2017) (22)
- Glypican 1 gene: good candidate for brachydactyly type E. (2002) (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)
- Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia (2014) (22)
- Diaphragmatic hernia as the first echographic sign in Apert syndrome (2000) (22)
- Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome (2016) (22)
- Genetic control of intra-uterine growth. (2000) (22)
- Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome. (2008) (22)
- Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients (2012) (21)
- No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome (2003) (21)
- Aetiology of congenital hearing loss: a cohort review of 569 subjects. (2013) (21)
- Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. (2016) (21)
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
- Prenatal findings in a monozygotic twin pregnancy with Costello syndrome (2002) (20)
- Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia (1999) (20)
- A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. (2014) (20)
- A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome (2017) (20)
- Growth pattern in Kabuki syndrome with a KMT2D mutation (2016) (20)
- Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees. (2014) (20)
- Association of CDH11 with non‐syndromic ASD (2014) (19)
- Array-based approaches in prenatal diagnosis. (2012) (19)
- Middle and inner ear malformations in velocardiofacial syndrome (2004) (19)
- Prenatal diagnosis of inherited satellited non‐acrocentric chromosomes (2000) (19)
- Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder? (2000) (19)
- Presenting symptoms in adults with the 22q11 deletion syndrome. (2014) (19)
- Atypical Neuropsychological Profile in a Boy with 22q11.2 Deletion Syndrome Keywords: (2005) (19)
- Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature (2018) (19)
- 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)
- Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2 (2012) (18)
- Atypical findings in three patients with Pai syndrome and literature review (2012) (18)
- Polyhydramnios as a prenatal symptom of the DiGeorge/velo‐cardio‐facial syndrome (1998) (18)
- De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. (2020) (18)
- Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies (2021) (18)
- Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome (18)
- Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (2019) (18)
- The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction (2020) (18)
- Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect (1998) (18)
- Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. (1997) (17)
- Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121)) (1996) (17)
- Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". (2011) (17)
- A cluster of α2-macroglobulin-related genes (α2M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an α2M pseudogene (1989) (17)
- Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome. (2016) (17)
- De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature (2020) (17)
- Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 (2017) (17)
- Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene (2019) (17)
- A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome (2012) (17)
- Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA (2020) (16)
- RAI 1 variations in Smith – Magenis syndrome patients without 17 p 11 . 2 deletions (2005) (16)
- FAMILIAL SPASTIC PARAPLEGIA AND MACULOPATHY WITH JUXTAFOVEOLAR RETINAL TELANGIECTASIS AND SUBRETINAL NEOVASCULARIZATION (2000) (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)
- Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations. (2001) (16)
- First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. (2018) (16)
- A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome (2020) (16)
- Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations. (2014) (16)
- Novel CASK mutations in cases with syndromic microcephaly (2018) (16)
- Focus group discussions on secondary variants and next-generation sequencing technologies. (2015) (16)
- Parenting, family contexts, and personality characteristics in youngsters with VCFS. (2004) (16)
- MURCS association with duplicated thumb (2002) (16)
- Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression (2012) (16)
- Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings (2018) (16)
- Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA (2018) (15)
- HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. (2013) (15)
- A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses (2004) (15)
- Unilateral Peters' anomaly in a patient with DiGeorge syndrome. (2005) (15)
- Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. (2016) (15)
- Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome? (1996) (14)
- X‐linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies (1997) (14)
- Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. (1995) (14)
- Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. (2006) (14)
- Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (2008) (14)
- Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome (1989) (14)
- Why genomics shouldn't get too personal: In favor of filters (2012) (14)
- Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes. (1998) (14)
- Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 (2013) (14)
- No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (2015) (14)
- Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing (2017) (14)
- Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. (1998) (13)
- Clinically relevant discordances identified after tertiary reassessment of fetuses with isolated congenital diaphragmatic hernia (2017) (13)
- PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. (2001) (13)
- Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. (2001) (13)
- Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening (2019) (13)
- Pierpont Syndrome: A Collaborative Study (2011) (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)
- Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting (2016) (13)
- Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate (2015) (13)
- The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly (2007) (13)
- The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease (1996) (13)
- Personality profiles of youngsters with velo-cardio-facial syndrome. (2002) (12)
- Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects. (2002) (12)
- Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome. (1996) (12)
- A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism (2014) (12)
- Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate (2015) (12)
- Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (2020) (12)
- Anterior cervical hypertrichosis and mental retardation (2006) (12)
- Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. (2006) (12)
- ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. (2018) (12)
- Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion (1997) (12)
- Partial monosomy 11q and trisomy 12q: variable expression in two siblings. (2003) (11)
- SPG20 mutation in three siblings with familial hereditary spastic paraplegia (2017) (11)
- 3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability. (2015) (11)
- Alopecia‐mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism (1996) (11)
- Cryptic translocation t(5;18) in familial mental retardation. (2000) (11)
- The prenatal diagnosis of spinal muscular atrophy (1998) (11)
- Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation. (1999) (11)
- Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p). (1998) (10)
- Deletions and loss-of-function variants in TP63 associated with orofacial clefting (2019) (10)
- Congenital sternoclavicular dermoid sinus. (2016) (10)
- Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. (2009) (10)
- A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications. (2008) (10)
- Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (2008) (10)
- Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies (2006) (10)
- Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy (2017) (10)
- Recurrent involvement of chromosomal region 6q21 in heterotaxy. (2001) (10)
- Modelling the influence of pad bending on the planarization performance during CMP (1999) (10)
- Somatic mosaicism and variable expression of Townes-Brocks syndrome. (2002) (10)
- Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. (2010) (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)
- Mild humoral immunodeficiency in a patient with X‐linked Kabuki syndrome (2016) (9)
- Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p. (1993) (9)
- Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. (1998) (9)
- Unilateral giant cell lesion of the jaw in Noonan syndrome. (2014) (9)
- Craniofrontonasal dysplasia: more severe expression in the mother than in her son. (1995) (9)
- Occipital Horn syndrome in a 2-year-old boy. (1999) (9)
- Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium? (2021) (9)
- Fetal sex determination in twin pregnancies using non-invasive prenatal testing (2019) (9)
- VATER--tibia aplasia association: report on two patients. (2002) (9)
- [Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists]. (2010) (8)
- Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association? (1997) (8)
- X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa (2012) (8)
- Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. (2019) (8)
- Loss of the Y-chromosome in a malignant Sertoli tumor. (1993) (8)
- Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series (2018) (8)
- Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. (1998) (8)
- Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20). (1998) (8)
- Multiple circumferential skin creases: Another sign of genetic mosaicism? (2004) (8)
- Semilobar holoprosencephaly in a 46,XY female fetus (2001) (8)
- A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype (2018) (8)
- A genetic polymorphism in a functional domain of human pregnancy zone protein: the bait region (1990) (7)
- Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. (1998) (7)
- Large congenital follicular ovarian cyst in a girl with Kabuki syndrome. (1996) (7)
- What should we tell parents? Congenital diaphragmatic hernia (2020) (7)
- The clinical relevance of intragenic NRXN1 deletions (2017) (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)
- Next-generation sequencing in prenatal setting: Some examples of unexpected variant association. (2020) (7)
- Scalp skin lesion in Turner syndrome: more than lymphoedema? (2005) (7)
- A catalog of hemizygous variation in 127 22q11 deletion patients (2016) (7)
- Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1) (2010) (7)
- DNA methylation profiling and genomic analysis in 20 children with short stature who were born small-for-gestational age. (2020) (7)
- Holoprosencephaly in deletions of proximal chromosome 14q. (1998) (7)
- Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit? (1997) (7)
- ELEVATED MATERNAL SERUM AND AMNIOTIC FLUID ALPHA‐FETOPROTEIN LEVELS IN THE DENYS–DRASH SYNDROME (1996) (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)
- Second trimester miscarriage of a male fetus with incontinentia pigmenti. (1998) (7)
- Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? (1997) (7)
- Resolution of non-immune hydrops in Noonan syndrome with favorable outcome. (2002) (6)
- BMPR 1 A is a candidate gene for congenital heart defects associated with the recurrent 10 q 22 q 23 deletion syndrome (2012) (6)
- Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa) (2020) (6)
- A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo (2018) (6)
- Gain-of-Function WASP Mutations in Pediatric and Adult Patients with Myelodysplasia or AML. (2006) (6)
- The incidence of DiGeorge/Velo-Cardio-Facial syndrome (1999) (6)
- Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity? (2009) (6)
- Criteria for HNF 1 B analysis in patients with congenital abnormalities of kidney and urinary tract (2015) (6)
- The fetal respiratory system as target for antenatal therapy (2011) (6)
- The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation (2000) (6)
- Aarskog‐Scott syndrome: first report of a duplication in the FGD1 gene (2012) (6)
- The Kabuki make‐up (Niikawa‐Kuroki) syndrome and isolated transient hyperphosphatasemia (1994) (6)
- Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. (2009) (6)
- Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions (2015) (6)
- Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. (2001) (6)
- Genetics in ophthalmology. (1998) (6)
- Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism. (2000) (6)
- Review: Facial endophenotypes in non-syndromic orofacial clefting. (2015) (6)
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders (2019) (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)
- Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries (2016) (6)
- Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique. (2017) (6)
- Prenatal diagnosis of schizencephaly after inhalation of organic solvents (2007) (6)
- Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group (2022) (5)
- Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant. (2000) (5)
- The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium (2019) (5)
- Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20 (2015) (5)
- Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. (2022) (5)
- Posterior amorphous corneal dystrophy caused by a de novo deletion (2017) (5)
- DiGeorge syndrome and unilateral symbrachydactyly. (1997) (5)
- Autosomal dominant isolated velopharyngeal insufficiency (2002) (5)
- Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study (2020) (5)
- SOX18 and the hypotrichosis-lymphedema-telangiectasia syndrome (2008) (5)
- Severe mental retardation ‐ distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion (1998) (5)
- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. (2004) (5)
- Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions. (2014) (5)
- Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features (2020) (5)
- Holoprosencephaly: A case series from an area with high mining‐related pollution (2019) (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)
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. (2017) (5)
- Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa (2014) (4)
- Velocardiofacial syndrome presenting as distal arthrogryposis (2004) (4)
- Aneurysm of the ductus arteriosus in a neonate with 13q-deletion. (2001) (4)
- Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome (2019) (4)
- Relation between Oxide-CMP Induced Defects and Post-CMP Cleaning Strategies (1998) (4)
- A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene. (1989) (4)
- Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease (2021) (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)
- Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia (2018) (4)
- Mirror-image gastroschisis in monochorionic female twins. (2015) (4)
- Congenital diaphragmatic hernia as a part of Nance–Horan syndrome? (2018) (4)
- DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes (2010) (4)
- Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. (2020) (4)
- Identification of intellectual disability genes in female patients with skewed X-inactivation (2015) (4)
- Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome. (1996) (4)
- Diagnostic evaluation for asymmetry: consider genetic mosaicism (2004) (4)
- Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations. (2020) (4)
- Heterogeneity in omphalocoele with absent radial ray complex. (1999) (4)
- Follow-up of an adult with Keutel syndrome. (1999) (4)
- Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema (2012) (4)
- A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis (2010) (4)
- A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. (2014) (4)
- Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). (2004) (3)
- Rinsing and Drying Effects on Heterogeneous Substrates (2001) (3)
- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family (2005) (3)
- PEDIA: prioritization of exome data by image analysis (2019) (3)
- Skin pigmentation anomalies in ring chromosome 13. (1998) (3)
- Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy (2021) (3)
- Chromosome mapping using polymerase chain reaction on somatic cell hybrids. (1990) (3)
- Clinical delineation of the PACS1-related Syndrome (2015) (3)
- Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability (2014) (3)
- Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. (2001) (3)
- Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. (2016) (3)
- Right aortic arch with vascular ring in one monozygotic twin. (2005) (3)
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- Correction: Arterial tortuosity syndrome: 40 new families and literature review (2018) (2)
- Announcing "Chromosomal imbalance letter" (2005) (1)
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- CATCH 22: the expanded clinical spectrum (1996) (1)
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- Velo-Cardio-Facial Syndrome: Nephro-urologic, gastrointestinal, and ophthalmic findings (2005) (1)
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- OP09.10: Flow of patients with isolated congenital diaphragmatic hernia following referral to a fetal surgery unit (2009) (1)
- MECP2 relateddisorders in male patients with mental retardation and neurological symptoms (2004) (1)
- Growth pattern in Kabuki Syndrome (2013) (1)
- Genetic causes of intellectual disability among males in Kinshasa (2013) (1)
- Narrowing the critical deletion region for autism spectrum disorders in chromosome 16p11.2 (2009) (1)
- Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome? (2004) (1)
- Workshop: improving dysmorphology skills of new syndromes with computer aided analysis (2016) (1)
- Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo (2020) (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)
- Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo (2018) (1)
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- Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa (2015) (1)
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- Genomic rearrangements of the grem1-fmn1 locus cause oligosyndactyly, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly (2010) (1)
- Empirical Ethics: The “Missing Link” in Incidental Findings Recommendations (2014) (1)
- Chapter 2 . 3 Mutations in a TGFß ligand , TGFB 3 , cause syndromic aortic aneurysms and dissections Mutations in TGFB 3 cause syndromic aortic aneurysms and dissections (2019) (1)
- 06-P038 Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm (2009) (1)
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- Triangular face and vascular malformation. The links to renal failure. (2003) (1)
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- Ophthalmological Findings in 6p Deletion Syndrome (2015) (1)
- Arterial tortuosity syndrome: clinical and molecular characterization of 12 newly identified families (2007) (1)
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- Primary prevention implantable cardioverter de fi brillators in end-stage kidney disease patients on dialysis: a matched cohort study (2015) (1)
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- Mesomelic form of short stature, congenital cataract, patent ductus arteriosus and muscular hypotonia associated with de novo translocation (13;18)(q14;q23) (2004) (1)
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- Dosage of chromatin remodelling enzymes is critical for human heart development (2009) (0)
- Structural variation of chromosomes in individuals with autism spectrum disorders (2012) (0)
- Preliminary findings on the physical activity in young adolescents with the 22q11.2 deletion syndrome (2008) (0)
- Non-invasive prenatal detection of a mosaic trisomy 16 (2014) (0)
- An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome features (2009) (0)
- Door syndrome: deafness, onychdystrophy, osteodystrophy, and mental retardation (2015) (0)
- Complex genomic rearrangement in the SMA-region on Chromosome 5q13 in a patient with severe congenital Werdnig-Hoffmann disease (1997) (0)
- Genetic Background of Primary Lymphedema (2010) (0)
- European Mathematical Genetics Meeting, Heidelberg, Germany, 12th–13th April 2007 (2007) (0)
- A molecular view on eye development (1998) (0)
- 4p16 olfactory receptor gene cluster is a promiscuous hotspot for chromosomal rearrangements (2007) (0)
- Facial morphology associated with isolated cleft palate (2016) (0)
- A 2.2Mb 1q42.2 Microduplication Including DISC1 in 2 Brothers with Autism and Mild Mental Retardation (2009) (0)
- FATCO syndrome: fibular hypoplasia, tibial campomelia and oligosyndactyly (2016) (0)
- Haploinsufficiency of TBX1 is not responsible for facial dysmorphology in patients with 22q11.2 deletion syndrome (2016) (0)
- Expanding preimplantation genetic diagnostic options (2017) (0)
- SkewedX-Chromosome Inactivation inFemaleCarriers of Dyskeratosis Congenita (1997) (0)
- The behavioral phenotype in children and adolescents with VCFS (del22q11) (2001) (0)
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- Congenital heart defects in a novel rec urrent 22q11.2 deletion harboring CRKL and MAPK1 (2012) (0)
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- Molecular analysis of 26 Ellis van Creveld syndrome (EVC) families using targeted NGS, MLPA and array CGH techniques reveals high frequency of a recurrent maternal deletion of EVC (2016) (0)
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- Fetal Determinants of Adult Health (2002) (0)
- Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa (2022) (0)
- DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age (2021) (0)
- The Nance-Horan syndrome: still underdiagnosed? (2007) (0)
- GJA1 mutations in patients with oculo-dento-digital dysplasia (2005) (0)
- Familial syndromic and non-syndromic congenital diaphragmatic hernia: the value of exome sequencing (2014) (0)
- CAPZB: A Potential Novel Key Player in Cardiac Development and Congenital Heart Defects (2018) (0)
- The genetic basis of autism spectrum disorders: identification and analysis of structural variants (2012) (0)
- Mutations in known cardiac genes explain half of autosomal dominant familial nonsyndromic congenital heart defects (2014) (0)
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- Expression profiling of 4p terminal deletions suggest that telomere position effects may contribute to disease phenotypes (2008) (0)
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- ArrayCGH detects mosaics in similar to 4% of patients with MR/CA (2005) (0)
- Towards a Belgian variant reference set (2014) (0)
- Growht in individuals with Kabuki syndrome (2012) (0)
- Homozygous loss-of-function mutation causes the lethal disorder mitogenic cardiomyopathy in two siblings (2014) (0)
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- CADHERIN-11 as a possible candidate gene for autism (2008) (0)
- Arterial tortuosity syndrome : 29 novel families (2016) (0)
- Syndrome de Williams Beuren: difficultés pour le diagnostic dans un patient Congolais (2013) (0)
- Microcephaly, short stature, hypogonadism and mental retardation in males: renpenning syndrome (2004) (0)
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- Neuropsychological characteristics of children with VCFS: evidence for a non-verbal learning disabiltiy? (1999) (0)
- Massive parallel sequencing of all human protein-coding genes identifies PACS1 as a new gene for a new intellectual disability syndrome (2011) (0)
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- Five new cases with FATCO syndrome (2017) (0)
- Further Expansion of the CHARGE Geno-Phenotype: A Girl with a Novel Deletion of CHD7 and with the Combination of Hypogonadotropic Hypogonadism and Agenesis of Internal Genitalia (2015) (0)
- Rothmund-Thomson syndrome: Immuno-osseous challenges (2011) (0)
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- Targeted massive parallel sequencing for arrhythmias and cardiomyopathies in a diagnostic setting (2016) (0)
- Genomic rearrangements encompassing and located outside the SHOX transcription unit identified using MLPA and a newly developed qPCR assay (2009) (0)
- SMURF1 is involved in cardiac development and congenital heart defects (2010) (0)
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- Value of gene panel targeted next generation sequencing in the diagnostic of genetics causes of isolated congenital diaphragmatic hernia (2017) (0)
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- A gene for congenital urological malformatons on chromosome 6p (1995) (0)
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- A genetic-etiological study of intellectual disability in the Democratic Republic of Congo. Initial results (2012) (0)
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- Abstract 13687: Global Rare Genic Copy Number Variants Contribute to Isolated Sporadic Tetralogy of Fallot (2011) (0)
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- Making array CHG technology accessible for Congolese patients using stripped slides (2014) (0)
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- A major locus for vesicoureteric reflux and its nephropathy (1999) (0)
- An updated map of the genomic copy number variants in patients with congenital eye malformations (2009) (0)
- Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. (2018) (0)
- DYSCERNE: An electronic Dysmorphology Diagnostic System (DDS) (2008) (0)
- Prenatal Array CGH Identifies Genomic Imbalances Associated With Congenital Diaphragmatic Hernia (CDH) (2012) (0)
- Cognitive correlates of math disability in children with 22q11.2 Deletion Syndrome (2006) (0)
- An Atypical Familial 4p16.3 deletion associated with Mild Wolf-Hirschhorn syndrome illustrates the power of 3D Shape analysis of Facial Dysmorphology (2009) (0)
- Congenital pulmonary lymphangiectasis in two female half-siblings (2006) (0)
- Nested inversion polymorphisms predispose for chromosome 22q11.2 rearrangements (2017) (0)
- FOXG1 haploinsufficiency due to a position effect by a balanced translocation in a boy with congenital Rett variant (2011) (0)
- Abstract 13234: 1q21.1 Microduplications are Strongly Associated with Tetralogy of Fallot and 1q21.1 Microdeletions are Associated with Other Congenital Heart Defects (2011) (0)
- High resolution Agilent 244K oligoarray CGH analysis for screening of patients with congenital eye malformations (2008) (0)
- Exome sequencing in syndromic patients with congenital heart disease performing trio analysis (2012) (0)
- Arterial tortuosity syndrome: 40 new families and literature review (2018) (0)
- The 22q11.2 Deletion Syndrome: Second Hit Copy Number Variants and Conotruncal Heart Defects (2011) (0)
- No evidence for mutations in five candidate genes, GATA4, FOG2, CRELD1, HEY2 and BMP4 as a common cause of structural cardiac defects (2006) (0)
- Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy (2021) (0)
- All familial cases of MCLMR are caused by mutations in KIF11 (2013) (0)
- The value of prenatal MRI in the decision-making process for termination of pregnancy (2011) (0)
- NPHP4 Variants are Associated with Congenital Heart Malformations and Heterotaxy (2011) (0)
- No locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (2014) (0)
- Microdeletion 2q31-redefining the correlated clinical phenotype (2005) (0)
- Exome sequencing reveals distinct genetic architectures for syndromic and nonsyndromic congenital heart defects (2016) (0)
- DYSCERNE: Online educational tools for dysmorphology - examination of a fetus with congenital abnormalities (2009) (0)
- A novel microduplication detected by array-cgh in a familial epilepsy associated with hypotonia, mental retardation and behavior disorders (2008) (0)
- Mosaicism for a double autosomal trisomy in hypomelanosis of Ito (1996) (0)
- Contents Vol. 135, 2011 (2011) (0)
- The acrofacial dysostoses: a wide spectrum of overflapping phenotypes with etiological heterogeneity (2005) (0)
- Exome sequencing and linkage analysis as tools in solving uncommon cardiomyopathies in small families (2015) (0)
- Clinical phenotype in noonan syndrome patients with SOS1 mutations (2008) (0)
- Chromosomale microarrays in de prenatale diagnostiek (2015) (0)
- Neuropsychopathology in patients with SHANK 3 haploinsufficiency: presence of bipolar disorder and progressive loss of skills (2012) (0)
- The Human HDR syndrome (2003) (0)
- Congenital bilateral vesicular facial lesions with a linear and symmertric distribution – A new dysmorphic feature? (2005) (0)
- Correction: Arterial tortuosity syndrome: 40 new families and literature review (2018) (0)
- RLIM is a new candidate gene for congenital diaphragmatic hernia (2017) (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)
- Evidence from adults with intellectual disability to cnv in prenatal period: how to build penetrance validation and appropriate genetic counselling? an example with 10q11.22 duplication (2016) (0)
- Trio analysis using Next Generation sequencing technology to identify de novo mutations in individuals with syndromic cardiopathy (2014) (0)
- The Centre for Hereditary Heart disease: an interdisciplinary approach towards cardio genetics (2006) (0)
- Genetic linkage analysis in nonspecific XLMR: Mapping of the MRX49, MRX50 and MRX51 loc (1997) (0)
- Diagnosis of an asymptomatic uterine rupture in a twin pregnancy with four-dimensional ultrasound examination and magnetic resonance imaging (2007) (0)
- Copy number variations in congolese patients with ID (2015) (0)
- Microcephaly associated with a familial balanced translocation t(5;18)(q35.2;q22.3):gene expression studies in lymphoblastoid cell‐lines. (2011) (0)
- Multidisciplinary search for intermediate phenotypes in autism spectrum disorders (2008) (0)
- Deletion 1p36: clinical findings in 6 patients and use of FISH and microarray technology to detect submicroscopic lesions (2007) (0)
- Interpretation of array cgh recurrent micro-deletions/duplications: 16p13.11 as example (2008) (0)
- Maternal copy number variations in the DMD gene as incidental findings in non-invasive prenatal testing (2019) (0)
- Volume reviewers (2011) (0)
- The diagnostic odyssey of Kabuki syndrome: a never ending story? (2016) (0)
- Analysis of autosomal CNV profiles in patients and siblings in autism families (2015) (0)
- Neurobehavioural deficits in 11 children (2-12 years) with 22q11.2 duplication (2010) (0)
- Cognitive and psychosocial findings in a family with renpenning syndrome (2004) (0)
- C Identification of the major genetic contributors to tetralogy of fallot (2019) (0)
- Comorbidity of Aarskog syndrome and child psychiatric pathology: Case reports, literature review and implications for the genetics of (develop)mental retardation (2004) (0)
- Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11 (1997) (0)
- Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia (2022) (0)
- NBEA, SCAMP5 and AMISYN: three candidate genes for autism involved in regulated secretion (2008) (0)
- Identification and characterization of variants in FGF8 and the 5’ region of TBX1 as possible modifiers of the cardiac phenotype in monosomy 22q11.2 (2007) (0)
- Genome-wide SNP calling and detection of submicroscopic imbalances using 250K SNP arrays (2008) (0)
- Genome-wide association study identifies common variation associated with congenital heart disease (2013) (0)
- Solving syndromic congenital heart defects using WES in a Trio or Index-only approach (2017) (0)
- Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3 (2016) (0)
- caused by a 22 q 11 deletion . Renal and urological tract malformations (0)
- Familial Axenfeld-Rieger syndrome caused by a FOXC1 deletion clinically mimicking aniridia (2016) (0)
- A novel compound heterozygous loss-of-function mutation in KIF20A is associated with a rare, lethal cardiomyopathy in two siblings (2017) (0)
- Multifactorial familial intellectual disability: a clinical study in schools for special education (2015) (0)
- Targeted massive parallel sequencing for inherited kidney diseases in a diagnostic setting (2016) (0)
- GNAS NESP and XL hypermethylation in pseudopseudohypoparathyroidism patients (2011) (0)
- A cognitive characterization of math impairments in children with 22q11.2 deletion syndrome (2008) (0)
- OCULO‐AURICULO‐VERTEBRAL SPECTRUM (2020) (0)
- The biology of mental retardation: a challenge (2001) (0)
- Genetic causes of intellectual disability in D.R.Congo: An etiological diagnostic survey in 46 males (2012) (0)
- OF EUROPEAN PEDIATRIC / ADULTS NE PHROLOGISTS AND GENETICISTS ABOUT DIAGNOSTIC TESTING OF ASYMPTOMATIC OFFSPRING FROM FAMILIES AFFECTED BY AUTOSOMAL DO MINANT POLYCYSTIC KIDNEY DISEASE (2016) (0)
- Subject Index, Vol. 75, 1996 (1996) (0)
- A New Pierre Robin Syndrome Caused by 5q23.2 Deletions (2008) (0)
- High frequency of copy number alterations in patients with congenital eye malformations (2010) (0)
- Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven (2016) (0)
- DYSCERNE Results from the full European launch of the Electronic Dysmorphology Diagnostic System (DDS) (2010) (0)
- Intelligence andpsychosocial adjustmentin velocardiofacial syndrome: astudy of37children andadolescents withVCFS (1997) (0)
- Further studies in Kabuki syndrome patients (2012) (0)
- Array CGH Identifies Novel Recurrent & Non-Recurrent Genomic Imbalances associated with CDH (2011) (0)
- In silico validation of small CNV’s from a dense SNP array (2016) (0)
- Child psychiatric problems in children with Velo-Cardio-Facial syndrome (1999) (0)
- Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (0)
- Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome (2018) (0)
- Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 (2017) (0)
- An unknown syndrome of congenital hypoplasia of the lateral abdominal wall muscles (2015) (0)
- Genetic causes of primary lymphedema (2011) (0)
- Exome sequencing and Linkage Analysis as Tools in solving and Uncommon Cariomyopathy in a Small Family (2015) (0)
- Exome sequencing and Linkage Analysis as Tools in solving Syndromic Cardiopathies in Small Families (2016) (0)
- Clinical applications of the CHDWIKI: a portal to manage and gather Cardiogenetic data (2009) (0)
- Contents Vol. 114, 2006 (2006) (0)
- The Nicolaides-Baraitser syndrome: description of five additional patients (2011) (0)
- Genetics of trigonocephaly (2006) (0)
- Duplication 22q11-polymorphism versus syndrome? (2005) (0)
- A novel genomic disorder at 16p13.11: Where is the syndrome? (2007) (0)
- Variability in expression of a familial 2.79 Mb microdeletion in chr14q22.1-22.2 (2011) (0)
- ArrayCGH analysis detects cryptic chromosomal aberrations in more than twenty percent of patients with idiopathic mental retardation and multiple congenital anomalies (2005) (0)
- Novel clinical and molecular findings in patients with noggin mutations (2004) (0)
- Volume Reviewers (2013) (0)
- Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care (2018) (0)
- FAM120C as a novel X-linked candidate gene for autism (2010) (0)
- Preliminary finding in boys with Fra X permutation. 7th SSBP International Research Symposium (2004) (0)
- Pre-academic and early academic achievement in children with Velo-Cardio-Facial Syndrome (22q11.2 deletion syndrome) (2003) (0)
- Positional cloning of three condidate genes for autism: A possible role for neuron vesicle trafficking in the pathogenesis of autism (2004) (0)
- Targeted capture sequencing identifies mutations in a substantial proportion of prior genotype negative - phenotype positive patients with inherited primary arrhythmia syndrome or cardiomyopathy (2015) (0)
- Fetal sex determination in twin pregnancies using non-invasive prenatal testing (2019) (0)
- Deletions and mutations in MEIS2 are a common cause of syndromic cleft palate (2017) (0)
- Complete penoscrotal Transposition with intact scrotum: first description of a case from central Africa (2015) (0)
- The Belgian MicroArray Prenatal (BEMAPRE) database [Online Abstract] (2015) (0)
- A genetic-etiological study of intellectual disabilit in the Democratic Republic of Congo (2012) (0)
- Theprevalence ofPAX2mutations inpatients withisolated colobomas orcolobomas associated withurogenital anomalies (1998) (0)
- Baraitser-Winter syndrome: delineation of the phenotypic spectrum in a large series of molecularly defined patients (2012) (0)
- Scleroderma-like changes as presenting sign of Hutchinson Gilford Progeria (2003) (0)
- Non-invasive prenatal aneuploidy detection (2014) (0)
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders (2019) (0)
- A de novo mosaic supernumerary marker derived from chromosome 16 (2002) (0)
- Mutations in KIF11 cause Microcephaly-Lymphedema-Chorioretinal dysplasia syndrome (MLCRD) (2012) (0)
- DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo (2022) (0)
- Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy (2017) (0)
- DYSCERNE: An Online Educational Tool for Dysmorphology - Examination of a fetus with congenital abnormality (2009) (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)
- Molecular karyotyping reveals 12% submicroscopic imbalances n a selected group of institutionalized patients with idiopathic mental retardation (2006) (0)
- The complex nature of monosomy 1p36 (2007) (0)
- Audiological and otoscopic results in the velo-cardio-facial syndrome (2003) (0)
- Chromosomal anomalies in 4 children with autism: Breakpoints and 1 gene (2002) (0)
- Cutting Edge Technology and Old-Fashioned Relationships: Ethical Reflections on Incidental Findings Arising from Whole Genome and Exome Sequencing (2011) (0)
- The acrofacial dysostoses--a wide spectrum of overlapping phenotypes. (2005) (0)
- Molecular karyotyping - novel powerful tool for gene identification (2006) (0)
- Four patients with macrodactylie: Proteus syndrome? (2006) (0)
- Copy Number Variation screen in catatonic patients with intellectual disabilityuncovers a novel susceptibility focus for psychiatric disorders on 14q11.2 (2016) (0)
- Mathematical abilities and working memory in primary school children with 22q11.2 deletion syndrome: some preliminary findings (2004) (0)
- OP31.05: Skeletal dysplasias: does first trimester NT measurement matter? (2009) (0)
- Findings in LRP2 mutation positive versus LRP2 mutation negative cases referred for DBS (2008) (0)
- Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome (2017) (0)
- Velo-facio-skeletal syndrome versus Aarskog syndrome. (1996) (0)
- Spectrum of hepatocyte nuclear factor 1beta mutations in a prospective cohort of patients with congenital renal abnormalities (2011) (0)
- Medical Genetics for the MRCOG and Beyond. J. Michael Connor. ISBD 1-900364-99-9 104 pages 2005. £ 26.00. (2006) (0)
- Screening of submicroscopic genomic aberrations in patients with X-linked mental retardation by high resolution array-CGH (2005) (0)
- Signs in dysmorphology (2007) (0)
- 60 Comprehensive genome-wide analysis of non-invasive test data allows accurate cancer prediction: a retrospective analysis of over 85.000 pregnancies (2021) (0)
- O-182 Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much? (2014) (0)
- Copy number variations in psychiatric patients with intellectual disability and catatonia: an exdploratory study (2016) (0)
- Mutation in HNRNPK causes a Kabuki-like syndrome with nodular heterotopia (2016) (0)
- Distal 10Q duplication and triplication: further delineation of the critical region and characterisation of the phenotype (2009) (0)
- The DYSCERNE project has developed clinical management guidelines for Williams, Angelman, Noonan and Kabuki syndromes (2010) (0)
- Variable clinical findings in GLI3 morphopathies (2002) (0)
- Aarskog-Scott syndrome: Report of the first duplication in the FGD1 gene (2011) (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)
- Follow up of fetuses referred to a fetal surgery unit for isolated congenital diaphragmatic hernia (ICDH) (2009) (0)
- Do we need to screen Smith-Magenis Syndrome patients for Renal Tumors? (2017) (0)
- Identification of two novel missense mutations in the CSX/NKX2-5 gene encoding a cardiac specific transcription factor. (2001) (0)
- Whole exome sequencing of Nicolaides-Baraitser syndrome patients reveals the de novo nature of the underling defects (2012) (0)
- Targeted re-sequencing of the 22q11 region in atypical DiGeorge patients (2011) (0)
- Iris heterochromia: A variable feature in Verloes–Koulischer‐oral‐acral syndrome (2005) (0)
- The deletion 15q11.2 and intellectual disability / autism (2013) (0)
- Clinical and molecular screening for the fragile X syndrome in specialized institutions in Kinshasa, DR Congo (2016) (0)
- A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism (2008) (0)
- Widening the phenotype of WAGR syndrome and defining a new locus for preaxial polydactyly (2006) (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)
- Congenital heart defects in a novel recurrent 22q11.2 deletion syndrome harboring the genes CRKL and MAPK1 (2011) (0)
- Whole genome sequencing in patients with the Hallermann-Streiff syndrome (2011) (0)
- Exome Sequencing Identifies Inherited Pathogenic Variants for Congenital Diaphragmatic Hernia (2013) (0)
- To Tell or Not to Tell? A Review of Ethical Reflections on Incidental Findings Arising in Genetics Contexts (2012) (0)
- Clinical and diagnostic evaluation of a population of MR patients livinv in foster families (1997) (0)
- Behavioural aspects in children with Wolf-Hirschhorn syndrome (1997) (0)
- FOXD1 duplication causes branchio oculo facial-like syndrome (2012) (0)
- Achalasia of the upper oesophageal sphincter in children with velo-cardio-facial syndrome (1999) (0)
- Incidental findings of genome wide non-invasive fetal aneuploidy detection: presymptomatic identification of maternal cancers (2015) (0)
- Locus heterogeneity in ASD associated with AV-block (2006) (0)
- Motor development in children with a deletion 22q11 syndrome: an explorative study (1) (2006) (0)
- Focal Dermal Dysplasia, Type IV is associated with mutations in CYP26CI (2012) (0)
- Unusual cytogenetic findings in two female patients with the Prader-Willi syndrome (1996) (0)
- Clinical and genetic studies in three families with XLMR and spastic paraplegia (1997) (0)
- Author response for "A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome" (2020) (0)
- Ptosis, Short Stature and Mild Skeletal Anomalies. Confirmation of a rare autosomal dominant condition (2009) (0)
- Unusual cerebellar malformations: two new cases of Friede syndrome and review of literature (2014) (0)
- O4: Detection of structural low-grade mosaicism by array CGH (2005) (0)
- Microdeletion 2p15-16.1 syndrome: report of three further patients identified by array-CGH (2011) (0)
- Wang syndrome (paternal UPD14-like phenotype): Clinical spectrum, molecular pathology and prognosis (2012) (0)
- Neurobeachin, a candidate gene for autism, is involved in regulated secretion (2008) (0)
- The clash between the newest genetic sequencing technologies and established ethical concepts (2012) (0)
- The del15q11.2: A search for modifying variants in the FMRP network (2014) (0)
- Clinical features of 80 adults with the Velo-Cardio-Facial syndrome with an emphasis on the psychiatric diagnoses (2009) (0)
- Neurofibromatosis type 2 in two patients with chromosomal abnormalities of chromosome 22 (2010) (0)
- An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome 3D facial shap analysis (2008) (0)
- A male with partial di George syndrome and multiple exostoses: further characterization of a reciprocal 8q/10p translocation (1997) (0)
- Severe Vertebral anomalies in a patietn with Holt-Oram syndrome and a TBX5 sequence variation (2004) (0)
- PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing (2022) (0)
- Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo (2018) (0)
- Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa. (2023) (0)
- A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium (2023) (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)
- Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect (2005) (0)
- Supplementary Material for: A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum (2017) (0)
- Molecular evidence for full mutations in the FMR1 gene and fragile X syndrome in the Bantu-speaking population in Central Africa (2015) (0)
- Vesiculaire uitslag en veralgemeende stuipen: een pasgeborene met incontinentia pigmenti (2015) (0)
- A study of facial morphology of Congolese down syndrome patients with FACE2GENE (2015) (0)
- Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles. (2023) (0)
- Genetic retesting with targeted capture sequencing of prior genotype negative – phenotype positive patients with inherited primary arrhythmia syndromes or cardiomyopathy (2015) (0)
- Dental care approach in patients with deletion on 14Q22.1 (2017) (0)
- 9p terminal deletion and genetics of trigonocephaly (2006) (0)
- The Matthew-Wood syndrome revisited (2009) (0)
- Cited2 haploinsufficiency is associated with congenital heart defects in mouse and man: Introducing the GO-CHD Study (2006) (0)
- A gene for non-syndromic autosomal dominant microcephaly on chromosome 5q35 or 18q22 (2006) (0)
- Three candidate genes for autism with a possible role in neuron vesicle trafficking (2004) (0)
- A 2.2Mb microduplication in 1q42.2 including DISC1 in 2 brothers with autism and mild mental retardation (2009) (0)
- Genetic research in autism: What do we learn from it? (2005) (0)
- From whole exome sequencing to functional studies in syndromic microcephaly: using zebrafish for variant testing (2015) (0)
- Autosomal fragile sites. Their contribution to human pathology (1997) (0)
- Dilated cardiomyopathy caused by lamin A/C mutation : need for a prospective study to prevent sudden death in lamin A/C mutation carriers (2003) (0)
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