Alain Verloès
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(Suggest an Edit or Addition)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)
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- [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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What Schools Are Affiliated With Alain Verloès?
Alain Verloès is affiliated with the following schools: