Alain Verloès

Alain Verloès's AcademicInfluence.com Rankings

Alain Verloès

Philosophy

#9581

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#13163

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Logic

#6554

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#8081

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Alain Verloès

Biology

#13183

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#16715

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Developmental Biology

#175

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#183

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Genetics

#1464

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#1566

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Molecular Biology

#2199

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#2233

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biology Degrees

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Alain Verloès'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

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (2001) (902)
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (2006) (551)
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. (2004) (353)
Updated diagnostic criteria for CHARGE syndrome: A proposal (2005) (348)
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. (2001) (346)
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification (2005) (327)
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations (2000) (318)
CHARGE syndrome: an update (2007) (295)
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (2006) (292)
WDR62 is associated with the spindle pole and is mutated in human microcephaly (2010) (281)
MECP2 is highly mutated in X-linked mental retardation. (2001) (278)
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. (2017) (276)
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy (2002) (254)
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (2001) (251)
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. (2007) (249)
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome (2007) (249)
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly (2007) (245)
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (2002) (244)
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome (2012) (242)
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis (2012) (234)
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees. (1995) (215)
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases (2005) (215)
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene (2005) (200)
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. (2008) (200)
Many roads lead to primary autosomal recessive microcephaly (2010) (196)
The mutation spectrum in RECQL4 diseases (2009) (186)
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene (2007) (175)
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities (2012) (161)
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome (2011) (135)
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions (2017) (135)
Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13 (2004) (133)
Familial abdominal aortic aneurysms: collection of 233 multiplex families. (2003) (130)
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders (2009) (128)
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis (2013) (128)
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) (2009) (126)
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease (2010) (125)
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia (2010) (124)
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (123)
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes (2012) (122)
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly (2012) (117)
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (2014) (114)
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 (2016) (114)
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes (1999) (112)
Elements of morphology: Standard terminology for the lips, mouth, and oral region (2009) (107)
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome (2007) (106)
The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene (2007) (105)
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement (2009) (105)
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations (2009) (105)
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients (2015) (102)
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2014) (101)
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes (2001) (99)
Juvenile myelomonocytic leukaemia and Noonan syndrome (2014) (99)
Further delineation of Kabuki syndrome in 48 well‐defined new individuals (2005) (97)
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation (2010) (97)
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. (2014) (96)
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases (1999) (92)
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations (2013) (92)
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. (1996) (89)
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects (2009) (88)
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. (2014) (88)
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience (2004) (87)
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. (1989) (86)
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. (2008) (85)
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations (2016) (85)
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. (1997) (83)
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families (2009) (82)
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features (2012) (81)
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature (2013) (81)
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort (2005) (80)
Should chromosome breakage studies be performed in patients with VACTERL association? (2005) (79)
Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability (2007) (79)
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. (2015) (77)
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. (1998) (77)
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. (2003) (74)
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients (1994) (74)
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing (2017) (73)
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (2001) (73)
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome (2015) (71)
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease (2001) (69)
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) (2003) (69)
Report from the workshop on Pallister-Hall syndrome and related phenotypes. (1996) (69)
Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive (2006) (68)
Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. (1997) (67)
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome (2005) (66)
Clinical and genetic heterogeneity of Seckel syndrome. (2002) (66)
Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations (2013) (66)
Chapter 13 – Microcephaly (2013) (66)
Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? (2011) (65)
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases. (2014) (64)
Spectrum of epilepsy in terminal 1p36 deletion syndrome (2008) (61)
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders (2013) (60)
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. (1997) (59)
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization (2015) (58)
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 (2016) (58)
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients (2017) (58)
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. (1998) (58)
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU (2017) (57)
Autism, language delay and mental retardation in a patient with 7q11 duplication (2007) (57)
Familial Acromegaly: Case Report and Review of the Literature (1999) (56)
Brain anomalies in encephalocraniocutaneous lipomatosis (2007) (56)
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. (2015) (55)
Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms. (1999) (55)
Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome (2006) (55)
Nicolaides–Baraitser syndrome: Delineation of the phenotype (2009) (55)
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3. (2009) (54)
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. (2016) (54)
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype (2012) (53)
Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome (2006) (53)
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. (1999) (53)
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia (2013) (52)
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. (2000) (52)
Autism, language delay and mental retardation in a patient with 7q11 duplication (2009) (51)
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. (2016) (51)
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2) (2010) (49)
A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2017) (49)
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator (2016) (49)
Pfeiffer syndrome type 2: further delineation and review of the literature. (1998) (49)
Infantile autophagic vacuolar myopathy is distinct from Danon disease (2001) (49)
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. (2011) (47)
Autosomal recessive primary microcephaly due to ASPM mutations: An update (2018) (46)
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy (2018) (45)
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019) (44)
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. (2010) (44)
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions (2009) (44)
PEDIA: prioritization of exome data by image analysis (2018) (44)
Myhre syndrome: new reports, review, and differential diagnosis (2003) (44)
Cardiac anomalies associated with congenital absence of the portal vein (1999) (44)
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. (1995) (43)
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients (2014) (43)
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. (2010) (42)
Phenotypic variability in van der Woude syndrome. (1995) (42)
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. (1992) (42)
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. (2010) (42)
MECP 2 is highly mutated in X-linked mental retardation (2001) (42)
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother (2012) (42)
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. (1991) (42)
Dysmorphology and the orbital region: a practical clinical approach. (2004) (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)
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (2019) (41)
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene (2007) (41)
Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. (1998) (40)
The Baller-Gerold syndrome. (1992) (40)
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (2014) (40)
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)? (2005) (39)
Bardet-biedl syndrome and brain abnormalities. (2007) (39)
Plasma amino acid concentrations in term infants fed human milk, a whey-predominant formula, or a whey hydrolysate formula. (1989) (39)
Coffin‐Lowry syndrome: a multicenter study (1988) (39)
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. (2015) (39)
Growth patterns of patients with Noonan syndrome: correlation with age and genotype. (2016) (38)
A hereditary moyamoya syndrome with multisystemic manifestations (2010) (38)
Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion (2005) (38)
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. (1995) (38)
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis (2017) (38)
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia (2011) (38)
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. (2019) (37)
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome (2008) (37)
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. (1996) (37)
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta (2015) (36)
Acute lymphoblastic leukemia in the context of RASopathies. (2016) (36)
CEMARA an information system for rare diseases (2010) (36)
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. (1992) (36)
Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome (2005) (36)
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome (2013) (36)
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. (2014) (36)
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. (2012) (36)
MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation (2003) (35)
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 (2014) (35)
CFC syndrome: a syndrome distinct from Noonan syndrome. (1988) (35)
Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families (2009) (33)
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families (2006) (33)
PRENATAL DIAGNOSIS OF CYSTIC HYGROMA AND CHORIOANGIOMA IN THE WOLF‐HIRSCHHORN SYNDROME (1991) (32)
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome (2010) (32)
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? (2010) (31)
Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene (2012) (31)
Binder phenotype: clinical and etiological heterogeneity of the so‐called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature (2009) (30)
3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome) (1989) (30)
Golgipathies in Neurodevelopment: A New View of Old Defects (2019) (30)
Cutaneous presentation of the cardio-facio-cutaneous syndrome. (1990) (29)
Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome (2010) (29)
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder (2015) (29)
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification (2014) (28)
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency (2015) (28)
De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability (2014) (26)
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability (2013) (26)
Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test? (2001) (26)
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. (1993) (26)
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. (2011) (26)
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia (2008) (25)
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. (1991) (25)
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals (2019) (25)
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory (2016) (25)
Genetic Aspects of Abdominal Aortic Aneurysm (1996) (24)
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells (2017) (24)
[Genetic and clinical aspects of lissencephaly]. (2007) (24)
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. (1997) (24)
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). (1992) (23)
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype (2018) (23)
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (2003) (23)
Cardiac involvement in Coffin‐Lowry syndrome (1999) (23)
Trisomy 20q. A new case and further phenotypic delineation (1990) (23)
BBBG syndrome or Opitz syndrome: new family. (1989) (23)
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia (2012) (23)
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia (2016) (23)
Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. (1995) (23)
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder (2018) (22)
Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome? (1992) (22)
A prenatal trisomy 21 screening program using alpha-fetoprotein, human chorionic gonadotropin, and free estriol assays on maternal dried blood. (1995) (22)
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. (2002) (22)
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases (2016) (22)
Feingold syndrome: report of a new family and review. (1997) (22)
Bruck syndrome: neonatal presentation and natural course in three patients (1998) (22)
Clinical utility gene card for: WAGR syndrome (2011) (22)
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. (2016) (22)
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? (1996) (22)
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia (2011) (22)
Proximal phocomelia and radial ray aplasia in fetal valproic syndrome (2005) (22)
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions (2014) (22)
Craniosynostosis: A rare complication of pycnodysostosis. (2010) (22)
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies (2012) (21)
Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome (2017) (21)
Dermatopathological aspects of restrictive dermopathy (1992) (20)
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020) (20)
Cytogenetic study of bovine oocytes matured in vitro. (1995) (20)
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10 (2014) (20)
A De Novo Mutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone (2005) (20)
Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. (1993) (20)
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. (2019) (20)
Clinical utility gene card for: CHARGE syndrome - update 2015 (2015) (20)
Microcephalic osteodysplastic dwarfism (Type ll‐like) in siblings (1987) (20)
11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures (2015) (20)
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations (2014) (20)
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. (1997) (20)
Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene (2013) (20)
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020) (20)
Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review (2009) (19)
Oligo-astrocytoma in LZTR1-related Noonan syndrome. (2019) (19)
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders (2020) (19)
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. (1990) (19)
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins (2005) (19)
CEMARA: a Web Dynamic Application Within a N-tier Architecture for Rare Diseases (2008) (18)
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review (2015) (18)
Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. (1990) (18)
Clinical utility gene card for: CHARGE syndrome (2011) (18)
Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome. (1997) (18)
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias (2004) (18)
Fetal phenotypes in otopalatodigital spectrum disorders (2016) (17)
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants (2020) (17)
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? (1993) (17)
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation (2019) (17)
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction (2019) (17)
Monosomy 11q: report of two familial cases and review of the literature. (1993) (17)
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation (2019) (17)
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. (2013) (17)
Genetic risk in natural and medically assisted procreation. (1997) (17)
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome (2017) (17)
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly (1996) (17)
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis. (1995) (16)
Immunocytochemical localization of prolactin-like immunoreactivity in rat pancreatic islets. (1983) (16)
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita (2021) (16)
Nicolaides–Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals (2003) (16)
Clinical utility gene card for: Rothmund–Thomson syndrome (2012) (16)
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. (1995) (16)
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis (2018) (15)
Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis (2005) (15)
Incomplete penetrance of biallelic ALDH1A3 mutations. (2016) (15)
Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family (2007) (15)
Brachymorphism-onychodysplasia-dysphalangism syndrome. (1993) (15)
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. (2001) (15)
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. (2014) (15)
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome (2008) (15)
Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome (2004) (14)
Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways (2019) (14)
GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation. (2000) (14)
The orocraniodigital syndrome of Juberg and Hayward. (1992) (14)
EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder (2018) (14)
Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS (2017) (14)
Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples (1998) (14)
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects (2020) (14)
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency. (2018) (14)
Classical West “syndrome” phenotype with a subtelomeric 4p trisomy (2004) (14)
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis (2010) (14)
Temple–Baraitser syndrome: A rare and possibly unrecognized condition (2010) (14)
Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia. (2001) (14)
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation (2014) (14)
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia (2018) (14)
Enzyme immunoassay screening of alpha 1-antitrypsin in dried blood spots from 39 289 newborns. (1991) (13)
Branchial arch anomalies in trisomy 18. (1991) (13)
Paraplegia and arthrogryposis multiplex of the lower extremities after intrauterine exposure to ergotamine. (1990) (13)
Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome (2009) (13)
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. (1996) (13)
Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome (2016) (13)
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation (2004) (12)
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients (2018) (12)
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients (2018) (12)
Incidence of infantile Pompe disease in the Maroon population of French Guiana (2018) (12)
Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis (2011) (12)
Osteocraniostenosis. (1994) (12)
GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome. (1989) (12)
A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic Twin (2011) (12)
A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. (2005) (12)
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. (1993) (12)
Prenatal findings in cardio‐facio‐cutaneous syndrome (2016) (11)
Congenital absence of the left pericardium and diaphragmatic defect in sibs. (2010) (11)
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B (2016) (11)
Pathogenesis of abdominal aortic aneurysm (AAA) formation. (1998) (11)
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature (2003) (10)
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region (2006) (10)
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. (2019) (10)
A new form of mandibulofacial dysostosis with macroblepharon and macrostomia (1997) (10)
SOTOS SYNDROME AND FRAGILE X CHROMOSOMES (1987) (10)
Metaphyseal acroscyphodysplasia (1991) (10)
Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features. (2011) (10)
Osteocraniostenosis vs. severe Hallermann-Streiff-François syndrome. (1997) (10)
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus (1991) (10)
A hydropic fetus with translucent ribs, arthrogryposis multiplex congenita and congenital myopathy: etiological heterogeneity of A.M.C., Toriello-Bauserman type? (1991) (9)
Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome (2017) (9)
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. (2000) (9)
Hypertelorism-microtia-clefting (HMC) syndrome. (1994) (9)
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. (1999) (9)
Le point sur le syndrome de Bardet-Biedl (2008) (9)
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion (2019) (9)
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort (2020) (9)
[Diagnostic investigations for an unexplained developmental disability]. (2012) (8)
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly (2017) (8)
Duplication of 10q24 locus: broadening the clinical and radiological spectrum (2019) (8)
New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations (2004) (8)
Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation (2010) (8)
[Update on Bardet-Biedl syndrome]. (2005) (8)
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families (2021) (8)
Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review (2003) (8)
Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes. (1995) (8)
Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (2006) (8)
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency (2010) (7)
Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report. (1990) (7)
Lumping of CFC and Baraitser-Patton Noonan-like syndromes. (1992) (7)
Hypertrichosis, Fallot tetralogy, growth and developmental delay. (2004) (7)
Noonan and Klinefelter syndromes in a child. (1987) (7)
MECP2 Mutations or Polymorphisms in Mentally Retarded Boys (2012) (7)
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome? (1990) (7)
Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (2015) (7)
Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity. (1992) (7)
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants (2020) (7)
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists. (2021) (7)
A congenital left ventricular diverticulum combined with a complex malformation syndrome (2003) (7)
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder (2019) (7)
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (2014) (7)
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma (2020) (7)
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations. (2015) (6)
Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication (2009) (6)
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype (2017) (6)
ASPM Primary Microcephaly (1993) (6)
LEF1 haploinsufficiency causes ectodermal dysplasia (2020) (6)
Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p) (2003) (6)
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]. (1998) (6)
Orofaciodigital syndrome with cerebral dysgenesis (2006) (6)
Pseudoaminopterin syndrome. (1993) (5)
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (2021) (5)
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. (1990) (5)
Mosaic trisomy 15 and hemihypertrophy. (2001) (5)
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (2021) (5)
Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery (1989) (5)
How to recognize Cowden syndrome: A novel PTEN mutation description. (2017) (5)
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study (2021) (5)
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered (2020) (5)
Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? (1990) (5)
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities (2016) (5)
Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase‐Smith syndrome? (1996) (5)
INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report (2018) (5)
[Spondylocostal dysostosis: a rare genetic disease]. (2004) (4)
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae. (2002) (4)
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder (2021) (4)
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder (2020) (4)
[Clinical case of the month. A male with 46,XX karyotype]. (1998) (4)
A familial syndromal form of omphalocele. (2011) (4)
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe. (2021) (4)
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder (2021) (4)
Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities. (1991) (4)
Precocious puberty associated with partial trisomy 18q and monosomy 11q. (2007) (4)
Non‐radioactive assay of AFP, hCG, and uE3 from dried blood specimens: A low‐cost alternative for maternal screening for trisomy 21 (1992) (4)
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome? (2005) (4)
Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly (2010) (4)
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome. (2020) (4)
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome? (2005) (3)
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy (2005) (3)
Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course (2009) (3)
Introducing the COVID-19 crisis Special Education Needs Coping Survey (2021) (3)
Chromosome 22 mosaic monosomy (46,XY/45,XY,-22). (1987) (3)
The development of a clinical screening tool for tumour predisposition syndromes in childhood cancer patients (2013) (3)
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey (2021) (3)
Nager acrofacial dysostosis with cleft lip. (1987) (3)
Severe acrocallosal syndrome or acromelic frontonasal dysplasia? (1994) (3)
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy (2021) (3)
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients (2017) (3)
Le syndrome de Smith-Magenis (2008) (3)
Mutations in the PTPN11 Gene The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of (2013) (3)
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2019) (3)
Agenesis of the corpus callosum, camptodactyly and obesity. (2000) (3)
Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome. (1996) (3)
Autosomal recessive primary microcephaly due to ASPM mutations: An update (2018) (2)
New oral-acral syndrome with partial agenesis of the maxillary bones. (1992) (2)
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (2)
Table 1. [Molecular Genetic Testing Used in Baraitser-Winter Cerebrofrontofacial (BWCFF) Syndrome]. (2015) (2)
A new lysosomal storage disorder resembling Morquio syndrome in sibs. (2012) (2)
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana (2022) (2)
New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy. (2001) (2)
Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome. (1990) (2)
A framework to identify modifier genes in patients with Phelan-McDermid syndrome (2017) (2)
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature (2022) (2)
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association? (2010) (2)
RE(ACT)2014 Rare Diseases. 2nd International Congress on Research of Rare and Orphan Diseases. 5th to 8th March 2014, Gehry Building, Novartis Campus, Basel: Abstracts (2014) (2)
Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child. (1992) (2)
[Problems caused by genetic diseases. Part 3: Chromosomal disorders: trisomy 21]. (2004) (2)
Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival (2017) (2)
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication (2012) (2)
Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening (2007) (2)
Roberts-SC phocomelia syndrome with exencephaly. (1989) (2)
Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology. (1997) (2)
Microcephalia vera and microcephaly with simplified gyral pattern (2004) (1)
Genetic analysis of adult onset neuronal ceroid lipofuscinosis (Kufs' disease) (1998) (1)
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France (2021) (1)
Etretinate embryotoxicity 7 months after discontinuation of treatment. (1990) (1)
[Tall stature: some classical syndromes]. (2006) (1)
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU (2017) (1)
[Ellis-Van Creveld syndrome. Apropos of a case diagnosed in utero]. (1989) (1)
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing (2019) (1)
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother (2012) (1)
Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia withsclerosing leucoencephalopathy (1997) (1)
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines) (2012) (1)
Neurological outcome in WDR62 primary microcephaly (2021) (1)
Further delineation of the Verloes-Koulischer-oro-acral syndrome. (1998) (1)
[Genetic aspects of the 46, XX male]. (1998) (1)
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder (2022) (1)
[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]. (2010) (1)
CBP/EP300-dependent acetylation and stabilization of HSF2 are compromised in the rare disorder, Rubinstein-Taybi syndrome (2018) (1)
CORRIGENDUM: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients (2015) (1)
[Genetic counseling and prenatal diagnosis]. (1999) (1)
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation. (2018) (1)
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (2021) (1)
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients (2022) (1)
patient with 7q11 duplication Autism, language delay and mental retardation in a (2007) (1)
[How I investigate...fetal pathology. Technique and value of the fetal and placental examination and the perinatal autopsy]. (2000) (1)
[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. (1988) (1)
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered (2020) (1)
Microcephaly. (2013) (0)
Severely delayed epiphyseal ossification dysplasia with normal stature (2003) (0)
Infantile systemic hyalinosis: Report of the first Guyanese case and review of the literature (2014) (0)
Le chromosome X (2007) (0)
Familial aspects in acromegaly (1994) (0)
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia (2022) (0)
Pseudoaminopterin syndrome (2012) (0)
Familial neuronal heterotopias as cerebral palsy. An inherited disorder of brain histogenesis (1991) (0)
Le syndrome de Smith-Magenis Smith-Magenis Syndrome: an original genetic disease (2008) (0)
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia (2018) (0)
Lethal short-rib with median cleft and without polydactyly: A fourth case (2005) (0)
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant (2021) (0)
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome (2022) (0)
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. (2022) (0)
努南综合征的皮肤病表现 (2019) (0)
2FC4.2 VIP blockade disrupts Mcph1-Chk1 signaling and leads to microcephaly in mice (2011) (0)
[RAS signalling pathway and its syndromes]. (2007) (0)
A dominantly inherited syndrome with frontonasal malformation Variant of Teebi hypertelorism syndrome or new entity (2002) (0)
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (2021) (0)
Table 4. [Types of Classic Lissencephaly and Associated Genes]. (2013) (0)
Fryns- Aftimos Syndrome A Case Report and Literature Review (2015) (0)
Table 1. [Summary of Molecular Genetic Testing Used in MCPH-SCKS Spectrum Disorders]. (2013) (0)
Author response for "Smith‐Magenis syndrome ( SMS ): clinical and behavioral characteristics in a large retrospective cohort" (2020) (0)
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019) (0)
Author response for "Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature" (2020) (0)
MOLECULAR ANALYSIS OF THE MCPH1 GENE IN PATIENTS WITH MICROCEPHALIA VERA (2008) (0)
Bloom syndrome in children: unusual case of early onset lung damage. (2023) (0)
[Table, GeneReview Scope]. (2015) (0)
Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia. (2013) (0)
[Typical hydantoin syndrome in a child of a non-epileptic mother]. (1986) (0)
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (2021) (0)
Gonadal Function of Female Patients with Noonan Syndrome (2019) (0)
Table 3. [Proportion of the Genes Most Likely to be Mutated in the Populations Studied]. (2013) (0)
Evolution of the autistic behavioral domains (social interaction, communication and stereotypies) and subdomains based on the ADI-R algorithm for the 4–5 years old period, and on the ADI-R algorithm completed by the ADOS algorithm for the current period. (2013) (0)
[Should we consider newborn screening for Pompe disease?]. (2014) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
Duplication of 10q24 locus: broadening the clinical and radiological spectrum (2019) (0)
Opitz-Kaveggia (FG) and Lujan syndromes are allelic having mutations in the MED12 gene (2007) (0)
Baraitser-Winter syndrome: delineation of the phenotypic spectrum in a large series of molecularly defined patients (2012) (0)
[From Noonan syndrome to juvenile myelomonocytic leukemia]. (2008) (0)
Images in cardiology: left-sided inferior vena cava (2001) (0)
Use and interest of adjustable passive prosthesis (mechanical without control) in children (2018) (0)
Candidate locus for familial abdominal aortic aneurysms by genome-wide DNA linkage analysis (2002) (0)
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features. (2013) (0)
Chromosome 1 p 36 deletions Author : Doctor (2003) (0)
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals (2019) (0)
How to deal with hypodontia and oligodontia in genetics (2010) (0)
Ocular manifestations in Dellemans syndrome and encephalocraniocutaneous lipomatosis. Report of three cases (1996) (0)
A homozygous activating ATAD1 mutation impairs postsynaptic AMPA receptor trafficking 2 and causes a lethal encephalopathy with congenital stiffness (2018) (0)
A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2017) (0)
Strong Top-Down Control in Southern California Kelp Forest Ecosystems (2006) (0)
Axenfeld-rieger patients: does the dental and ophthalmic phenotype reflect the molecular diagnosis? (2008) (0)
[Aorto-pulmonary collaterals in an infant with 22q11 monosomy]. (1999) (0)
3FC2.1 ASPM mutations differentially affect different areas of the cortex; Implications for the definition of microcephalia vera (2011) (0)
[Prenatal screening for trisomy 21 in maternal blood. Focus]. (1991) (0)
Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits. (1994) (0)
Table 2. [Studies Related to MCPH/SCKS Types]. (2013) (0)
Circumferential skin creases and blepharophimosis are features associated with tubulinopathies : a case report and review of literature (2018) (0)
Bloom syndrome in children: unusual case of early onset lung damage. (2023) (0)
gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel (2008) (0)
[X chromosome]. (2019) (0)
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis (2018) (0)
A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. (2023) (0)
Lissencephaly, Genetics of (2007) (0)
Author response for "LEF1 haploinsufficiency causes ectodermal dysplasia" (2020) (0)
Dermatological manifestations in Noonan syndrome (2019) (0)
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study. (2021) (0)
[A forest can hide a tree ... Rett syndrome: a second genetic cause of mental retardation in young girls?]. (1987) (0)
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria (2005) (0)
[Sensible guidelines for the evaluation of mental retardation]. (2008) (0)
Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? (1991) (0)
[Genetic problems. Anticonvulsants and pregnancy. Clarification of the teratogenic risk]. (1986) (0)
[Preventive treatment of neurodysraphias]. (1986) (0)
heterogeneity in Cohen syndrome and clinical COH1 Mutational spectrum of (2006) (0)
Femoral-facial syndrome: long term follow-up and associated array CGH abnormalities. (2013) (0)
New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches? (2000) (0)
Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy (2021) (0)
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype (2018) (0)
Should chromosome breakage studies be performed in patients with VACTERL syndrome (2004) (0)
Table 4. [ACTG1 Selected Pathogenic Allelic Variants]. (2015) (0)
brachyolmia with amelogenesis imperfecta (2015) (0)
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation (2019) (0)
[The fragile X syndrome in 1987. Recent findings and review of the problem]. (1987) (0)
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion (2019) (0)
Table of Contents, Volume 170A, Number 12, December 2016 (2016) (0)
Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens. (2001) (0)
Sponastrime dysplasia with mental retardation: A distinct entity (1994) (0)
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome? (2003) (0)
Thyroid hormones modulate cardiac activity and the number of adrenoceptors and muscarinic receptors in heart: in cardiac membranes from hypothyroid rats, (2001) (0)
Dermatological manifestations in cardiofaciocutaneous syndrome (2019) (0)
心脸皮肤综合症中的皮肤表现 (2019) (0)
Case 31-2006: a girl with severe obesity. (2007) (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)
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma (2020) (0)

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Paris Diderot University

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