Alain Verloès
Reproducibility track record
1
assessed papers
87/100
mean reproducibility
1
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/1)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 0
last author: 0
Topics
—
Funders
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Frequent co-authors
Michelle L. Thompson 1Krista Schatz 1Christian Schlein 1Fatemeh Hassani Nia 1Michael Zech 1Konrad Platzer 1Erica E. Davis 1Kristin Barañano 1Theresa Brunet 1Ernest Turro 1
Institutions
Universität Hamburg 1University Medical Center Hamburg-Eppendorf 1Icahn School of Medicine at Mount Sinai 1Washington University in St. Louis 1Helmholtz Zentrum München 1Institute for Advanced Study 1
Geography (author institutions)
DE 1US 1FR 1DK 1NL 1BE 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (1)
Complete publication record (621)
Request a reproduction →1 assessed by us (1 reproduced) · 620 not yet assessed — every PubMed paper on record, linked below.
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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder ↗Zurich Open Repository and Archive (University of Zurich) · 2026not yet assessed
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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Genome Medicine · 2026 · PMID 42638108not yet assessed
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Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2 -related disorders ↗Brain · 2026 · PMID 42496149not yet assessed
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Further characterization of the BRSK2-associated neurodevelopmental disorder ↗European Journal of Human Genetics · 2026 · PMID 42509346not yet assessed
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RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial ↗EClinicalMedicine · 2026 · PMID 42621140not yet assessed
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Additional file 3 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Figshare · 2026not yet assessed
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Additional file 2 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Figshare · 2026not yet assessed
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Additional file 3 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Figshare · 2026not yet assessed
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Additional file 1 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Figshare · 2026not yet assessed
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Additional file 1 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Figshare · 2026not yet assessed
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Additional file 2 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome ↗Figshare · 2026not yet assessed
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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses ↗Nature Medicine · 2025 · PMID 39825153not yet assessed
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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption ↗Nature Genetics · 2025 · PMID 40379786not yet assessed
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European training requirements for the specialty of medical genetics ↗European Journal of Human Genetics · 2025 · PMID 40604116not yet assessed
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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review ↗Orphanet Journal of Rare Diseases · 2025 · PMID 40289159not yet assessed
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders ↗European Journal of Human Genetics · 2025 · PMID 40983642not yet assessed
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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder ↗medRxiv · 2025 · PMID 40236430not yet assessed
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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses ↗Nature Medicine · 2025 · PMID 40537530not yet assessed
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders ↗Research Square · 2025not yet assessed
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Ichtyose liée à des variants du gène ELOVL1 : une forme syndromique rare et mal connue d’ichtyose ↗Annales de Dermatologie et de Vénéréologie - FMC · 2025not yet assessed
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Expanding the phenotype associated with biallelic SCNM1 variants ↗Human Genomics · 2025 · PMID 41291844not yet assessed
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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations ↗European Journal of Human Genetics · 2024 · PMID 39085583not yet assessed
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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsNature Communications · 2024 · PMID 39256359L1 87/100
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Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee ↗European Journal of Medical Genetics · 2024 · PMID 38848991not yet assessed
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Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder ↗European Journal of Medical Genetics · 2024 · PMID 38346666not yet assessed
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon ↗Nature Genetics · 2024 · PMID 39433890not yet assessed
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Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS ‐positive variant patients ↗Journal of the European Academy of Dermatology and Venereology · 2024 · PMID 38595321not yet assessed
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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ↗European Journal of Human Genetics · 2024 · PMID 38355961not yet assessed
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Cerebral dural arteriovenous fistulas in patients with PTEN ‐related hamartoma tumor syndrome ↗Clinical Genetics · 2024 · PMID 38424388not yet assessed
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A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France ↗European Journal of Epidemiology · 2024 · PMID 38671254not yet assessed
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases ↗Research Square · 2024 · PMID 38903062not yet assessed
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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ↗European Journal of Human Genetics · 2024 · PMID 38565641not yet assessed
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing ↗Human Genomics · 2023 · PMID 37138343not yet assessed
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 ↗Human Genetics and Genomics Advances · 2023 · PMID 37009414not yet assessed
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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting ↗BMC Health Services Research · 2023 · PMID 37085862not yet assessed
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Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome ↗Molecular Psychiatry · 2023 · PMID 36604605not yet assessed
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Together4RD position statement on collaboration between European reference networks and industry ↗Orphanet Journal of Rare Diseases · 2023 · PMID 37670358not yet assessed
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Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1 ↗British Journal of Dermatology · 2023 · PMID 37831592not yet assessed
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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals ↗Genetics in Medicine · 2023 · PMID 37860968not yet assessed
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Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions ↗Journal of Global Health · 2023 · PMID 37497751not yet assessed
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ↗Genetics in Medicine · 2023 · PMID 36681873not yet assessed
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Expanding the phenotype of GTF2E2‐associated trichothiodystrophy ↗Journal of the European Academy of Dermatology and Venereology · 2023 · PMID 37793898not yet assessed
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PACS2 pathogenic variant associated with malformation of cortical development and epilepsy ↗Epileptic Disorders · 2023 · PMID 38031819not yet assessed
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New description of an MRPS2 homozygous patient: Further features to help expend the phenotype ↗European Journal of Medical Genetics · 2023 · PMID 38029925not yet assessed
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Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis ↗Frontiers in Genetics · 2023 · PMID 37152996not yet assessed
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases ↗medRxiv · 2023 · PMID 37503210not yet assessed
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Bloom syndrome in children: unusual case of early onset lung damage ↗Clinical Dysmorphology · 2023 · PMID 36876347not yet assessed
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Orphaid: A New Platform for Rare Genetic Intellectual Disabilities in Orphanet in Partnership with Ernithaca ↗SSRN Electronic Journal · 2023not yet assessed
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Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder ↗Nature Communications · 2023 · PMID 37770591not yet assessed
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients ↗American Journal of Medical Genetics Part A · 2022 · PMID 36369750not yet assessed
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CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder ↗Nature Communications · 2022 · PMID 36385105not yet assessed
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A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort ↗European Journal of Human Genetics · 2022 · PMID 36450799not yet assessed
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Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana ↗Molecular Genetics & Genomic Medicine · 2022 · PMID 35315256not yet assessed
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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature ↗Birth Defects Research · 2022 · PMID 35426486not yet assessed
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De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia ↗British Journal of Haematology · 2022 · PMID 36111525not yet assessed
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Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant ↗Journal Français d Ophtalmologie · 2022 · PMID 35667788not yet assessed
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Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome ↗bioRxiv (Cold Spring Harbor Laboratory) · 2022not yet assessed
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases ↗European Journal of Human Genetics · 2021 · PMID 34075208not yet assessed
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ↗European Journal of Human Genetics · 2021 · PMID 34075210not yet assessed
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita ↗Journal of Medical Genetics · 2021 · PMID 33820833not yet assessed
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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families ↗Genetics in Medicine · 2021 · PMID 34234304not yet assessed
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Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists ↗European Journal of Medical Genetics · 2021 · PMID 34757052not yet assessed
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy ↗Molecular Genetics & Genomic Medicine · 2021 · PMID 34402213not yet assessed
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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder ↗Clinical Genetics · 2021 · PMID 34176129not yet assessed
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Neurological outcome in WDR62 primary microcephaly ↗Developmental Medicine & Child Neurology · 2021 · PMID 35726608not yet assessed
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder ↗Human Mutation · 2021 · PMID 33856728not yet assessed
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France ↗Orphanet Journal of Rare Diseases · 2021 · PMID 34348744not yet assessed
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Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder ↗Clinical Genetics · 2021 · PMID 34904221not yet assessed
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NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study ↗Neurogenetics · 2021 · PMID 34405299not yet assessed
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Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey ↗European Journal of Medical Genetics · 2021 · PMID 34896604not yet assessed
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European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe ↗European Journal of Medical Genetics · 2021 · PMID 34757053not yet assessed
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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis ↗European Journal of Human Genetics · 2021 · PMID 34075211not yet assessed
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Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study ↗European Journal of Medical Genetics · 2021 · PMID 34274527not yet assessed
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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant ↗European Journal of Medical Genetics · 2021 · PMID 34863918not yet assessed
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Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases ↗European Journal of Human Genetics · 2021 · PMID 34385672not yet assessed
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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ↗European Journal of Human Genetics · 2021 · PMID 34393220not yet assessed
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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis ↗European Journal of Human Genetics · 2021not yet assessed
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Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy ↗2021not yet assessed
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Author response for "EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder" ↗2021not yet assessed
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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint ↗European Journal of Human Genetics · 2021 · PMID 34429526not yet assessed
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not yet assessed
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Author response for "EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder" ↗2021not yet assessed
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants ↗Genetics in Medicine · 2020 · PMID 32424177not yet assessed
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics ↗Genetics in Medicine · 2020 · PMID 33149277not yet assessed
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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature ↗Clinical Genetics · 2020 · PMID 32279304not yet assessed
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders ↗Orphanet Journal of Rare Diseases · 2020 · PMID 32334637not yet assessed
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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction ↗Clinical Genetics · 2020 · PMID 31997314not yet assessed
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LEF1 haploinsufficiency causes ectodermal dysplasia ↗Clinical Genetics · 2020 · PMID 32022899not yet assessed
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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects ↗Journal of Medical Genetics · 2020 · PMID 32015000not yet assessed
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Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort ↗Clinical Genetics · 2020 · PMID 33368193not yet assessed
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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma ↗European Journal of Human Genetics · 2020 · PMID 32737437not yet assessed
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Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants ↗Clinical Genetics · 2020 · PMID 32233106not yet assessed
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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered ↗European Journal of Human Genetics · 2020 · PMID 33082526not yet assessed
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome ↗European Journal of Medical Genetics · 2020 · PMID 32998064not yet assessed
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features ↗Carolina Digital Repository (University of North Carolina at Chapel Hill) · 2020not yet assessed
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Le syndrome ADNP (protéine neuroprotectrice dépendante de l’activité) lié à la déficience intellectuelle et aux troubles du spectre autistique : une revue de la littérature ↗Neuropsychiatrie de l Enfance et de l Adolescence · 2020not yet assessed
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Table B. [OMIM Entries for ASPM Primary Microcephaly (View All in OMIM)].2020not yet assessed
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ↗Carolina Digital Repository (University of North Carolina at Chapel Hill) · 2020not yet assessed
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PEDIA: prioritization of exome data by image analysis ↗Genetics in Medicine · 2019 · PMID 31164752not yet assessed
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly ↗Genetics in Medicine · 2019 · PMID 30842647not yet assessed
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome ↗The American Journal of Human Genetics · 2019 · PMID 31130282not yet assessed
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders ↗Journal of Medical Genetics · 2019 · PMID 30923172not yet assessed
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals ↗Genetics in Medicine · 2019 · PMID 31363182not yet assessed
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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report ↗European Journal of Medical Genetics · 2019 · PMID 31207318not yet assessed
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Duplication of 10q24 locus: broadening the clinical and radiological spectrum ↗European Journal of Human Genetics · 2019 · PMID 30622331not yet assessed
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Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways ↗Human Mutation · 2019 · PMID 31696992not yet assessed
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Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation ↗Journal of Molecular Neuroscience · 2019 · PMID 31127536not yet assessed
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Oligo-astrocytoma in LZTR1-related Noonan syndrome ↗European Journal of Medical Genetics · 2019 · PMID 30664951not yet assessed
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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion ↗Neurogenetics · 2019 · PMID 31655922not yet assessed
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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder ↗Orphanet Journal of Rare Diseases · 2019 · PMID 31151468not yet assessed
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Gonadal Function of Female Patients with Noonan SyndromeHAL (Le Centre pour la Communication Scientifique Directe) · 2019not yet assessed
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Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome ↗npj Genomic Medicine · 2019 · PMID 31285849not yet assessed
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Dermatological manifestations in cardiofaciocutaneous syndrome ↗British Journal of Dermatology · 2019not yet assessed
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Dermatological manifestations in Noonan syndrome ↗British Journal of Dermatology · 2019not yet assessed
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Manifestations dermatologiques du syndrome de Noonan: étude prospective et multicentrique française de 129 patients ↗Annales de Dermatologie et de Vénéréologie · 2019not yet assessed
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Manifestations dermatologiques du syndrome cardio-facio-cutané: étude prospective et multicentrique française de 45 patients ↗Annales de Dermatologie et de Vénéréologie · 2019not yet assessed
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesVBN Forskningsportal (Aalborg Universitet) · 2019not yet assessed
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Premier Rapport sur les Agénésies Transverses des Membres Supérieurs (ATMS) : saisine n° 2018-SA-0242 « Demande d'avis relatif à l'existence de cas groupés d'agénésie transverse des membres supérieurs dans des zones géographiques restreintes de trois départements (Ain, Morbihan et Loire-Atlantique) »HAL - CNAM · 2019not yet assessed
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CBP/EP300-dependent acetylation and stabilization of HSF2 are compromised in Rubinstein-Taybi syndromeHAL (Le Centre pour la Communication Scientifique Directe) · 2019not yet assessed
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努南综合征的皮肤病表现 ↗British Journal of Dermatology · 2019not yet assessed
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Manifestations dermatologiques du syndrome de Costello : étude prospective et multicentrique française de 20 patients ↗Annales de Dermatologie et de Vénéréologie · 2019not yet assessed
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心脸皮肤综合症中的皮肤表现 ↗British Journal of Dermatology · 2019not yet assessed
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Golgipathies in Neurodevelopment: A New View of Old Defects ↗Developmental Neuroscience · 2018 · PMID 30878996not yet assessed
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype ↗Neurogenetics · 2018 · PMID 29511999not yet assessed
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NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder ↗Clinical Genetics · 2018 · PMID 29770430not yet assessed
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ↗European Journal of Medical Genetics · 2018 · PMID 30472488not yet assessed
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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia ↗European Journal of Human Genetics · 2018 · PMID 30006632not yet assessed
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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation ↗British Journal of Dermatology · 2018 · PMID 30417923not yet assessed
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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis ↗European Journal of Human Genetics · 2018 · PMID 29695756not yet assessed
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Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency ↗European Journal of Endocrinology · 2018 · PMID 30325180not yet assessed
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EFNB2haploinsufficiency causes a syndromic neurodevelopmental disorder ↗Clinical Genetics · 2018 · PMID 29508392not yet assessed
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Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients ↗Journal of Medical Genetics · 2018 · PMID 29459493not yet assessed
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Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients ↗British Journal of Dermatology · 2018 · PMID 30141192not yet assessed
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Incidence of infantile Pompe disease in the Maroon population of French Guiana ↗BMJ Paediatrics Open · 2018 · PMID 29637184not yet assessed
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INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report ↗Clinical Genetics · 2018 · PMID 29451301not yet assessed
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeINRIA a CCSD electronic archive server · 2018not yet assessed
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HUWE1 mutations cause dominant XLID: a clinical and genetic study of 22 patientsEuropean Journal of Human Genetics · 2018not yet assessed
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUUtrecht University Repository (Utrecht University) · 2018not yet assessed
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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation ↗Brain · 2018 · PMID 29659731not yet assessed
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PEDIA: Prioritization of Exome Data by Image Analysis ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
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CBP/EP300-dependent acetylation and stabilization of HSF2 are compromised in the rare disorder, Rubinstein-Taybi syndrome ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
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Lissencephaly, Genetics of ↗Encyclopedia of Life Sciences · 2018not yet assessed
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Circumferential skin creases and blepharophimosis are features associated with tubulinopathies : a case report and review of literatureOpen Repository and Bibliography (University of Liège) · 2018not yet assessed
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Use and interest of adjustable passive prosthesis (mechanical without control) in children ↗Annals of Physical and Rehabilitation Medicine · 2018not yet assessed
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Étude rétrospective de 74 patients avec anomalies de la segmentation vertébrale : démarche diagnostique et investigations génétiques ↗Morphologie · 2018not yet assessed
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformationsHAL (Le Centre pour la Communication Scientifique Directe) · 2018not yet assessed
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ↗The American Journal of Human Genetics · 2017 · PMID 29100083not yet assessed
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions ↗The American Journal of Human Genetics · 2017 · PMID 28475860not yet assessed
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ↗Nature Genetics · 2017 · PMID 28067909not yet assessed
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing ↗Genetics in Medicine · 2017 · PMID 28151489not yet assessed
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU ↗Human Genetics · 2017 · PMID 28283832not yet assessed
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients ↗European Journal of Human Genetics · 2017 · PMID 29180823not yet assessed
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome ↗npj Genomic Medicine · 2017 · PMID 29263841not yet assessed
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells ↗Brain · 2017 · PMID 28969387not yet assessed
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Autosomal recessive primary microcephaly due to ASPM mutations: An update ↗Human Mutation · 2017 · PMID 29243349not yet assessed
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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy ↗Brain · 2017 · PMID 29390050not yet assessed
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Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome ↗American Journal of Medical Genetics Part A · 2017 · PMID 28777491not yet assessed
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Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome ↗American Journal of Medical Genetics Part A · 2017 · PMID 28573701not yet assessed
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Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS ↗Pigment Cell & Melanoma Research · 2017 · PMID 28640947not yet assessed
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Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome ↗Haematologica · 2017 · PMID 29217785not yet assessed
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Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly ↗American Journal of Medical Genetics Part A · 2017 · PMID 28440900not yet assessed
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How to recognize Cowden syndrome: A novel PTEN mutation description ↗Annales d Endocrinologie · 2017 · PMID 28262255not yet assessed
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Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival ↗European Journal of Dermatology · 2017 · PMID 28524048not yet assessed
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Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ↗Nature Genetics · 2017not yet assessed
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A framework to identify modifier genes in patients with Phelan-McDermid syndrome ↗bioRxiv (Cold Spring Harbor Laboratory) · 2017not yet assessed
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)UCL Discovery (University College London) · 2017not yet assessed
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Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2 ↗Human Mutation · 2016 · PMID 27302555not yet assessed
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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations ↗American Journal of Medical Genetics Part A · 2016 · PMID 27648933not yet assessed
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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 ↗American Journal of Medical Genetics Part A · 2016 · PMID 27605097not yet assessed
-
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator ↗Clinical Genetics · 2016 · PMID 27925162not yet assessed
-
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects ↗The American Journal of Human Genetics · 2016 · PMID 27476655not yet assessed
-
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons ↗The American Journal of Human Genetics · 2016 · PMID 27453579not yet assessed
-
Growth patterns of patients with Noonan syndrome: correlation with age and genotype ↗European Journal of Endocrinology · 2016 · PMID 26903553not yet assessed
-
Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis ↗Clinical Genetics · 2016 · PMID 27861764not yet assessed
-
Acute lymphoblastic leukemia in the context of RASopathies ↗European Journal of Medical Genetics · 2016 · PMID 26855057not yet assessed
-
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases ↗Prenatal Diagnosis · 2016 · PMID 27859469not yet assessed
-
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia ↗European Journal of Human Genetics · 2016 · PMID 26757980not yet assessed
-
Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome ↗Clinical Genetics · 2016 · PMID 27040866not yet assessed
-
Incomplete penetrance of biallelic ALDH1A3 mutations ↗European Journal of Medical Genetics · 2016 · PMID 26873617not yet assessed
-
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B ↗American Journal of Medical Genetics Part A · 2016 · PMID 27410998not yet assessed
-
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11HAL (Le Centre pour la Communication Scientifique Directe) · 2016not yet assessed
-
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities ↗Orphanet Journal of Rare Diseases · 2016 · PMID 27450488not yet assessed
-
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype ↗Pediatric Allergy and Immunology · 2016 · PMID 28039949not yet assessed
-
Le syndrome de De Morsier : une cause congénitale méconnue d’hypopituitarisme ↗Annales d Endocrinologie · 2016not yet assessed
-
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluatorAbstract book · 2016not yet assessed
-
Les maladies rares ou maladies de cause rare ↗La Revue de Santé Scolaire et Universitaire · 2016not yet assessed
-
Epidémiologie des anomalies du développement en France : une expérience de 8 années2016not yet assessed
-
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients ↗Genetics in Medicine · 2015 · PMID 25790162not yet assessed
-
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization ↗Human Mutation · 2015 · PMID 26077438not yet assessed
-
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder ↗Molecular Autism · 2015 · PMID 25844147not yet assessed
-
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations ↗European Journal of Medical Genetics · 2015 · PMID 26162704not yet assessed
-
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents ↗Gastroenterology · 2015 · PMID 26116798not yet assessed
-
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome ↗Human Mutation · 2015 · PMID 26173643not yet assessed
-
Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy ↗The American Journal of Human Genetics · 2015 · PMID 25817018not yet assessed
-
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature ↗European Journal of Medical Genetics · 2015 · PMID 25682901not yet assessed
-
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta ↗Human Molecular Genetics · 2015 · PMID 25669657not yet assessed
-
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency ↗Orphanet Journal of Rare Diseases · 2015 · PMID 25885655not yet assessed
-
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory ↗Cortex · 2015 · PMID 26691732not yet assessed
-
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review ↗American Journal of Medical Genetics Part A · 2015 · PMID 25847481not yet assessed
-
11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures ↗American Journal of Medical Genetics Part A · 2015 · PMID 26334118not yet assessed
-
Fetal phenotypes in otopalatodigital spectrum disorders ↗Clinical Genetics · 2015 · PMID 26404489not yet assessed
-
Clinical utility gene card for: CHARGE syndrome - update 2015 ↗European Journal of Human Genetics · 2015 · PMID 25689928not yet assessed
-
Prenatal findings in cardio‐facio‐cutaneous syndrome ↗American Journal of Medical Genetics Part A · 2015 · PMID 26494162not yet assessed
-
RASopathies et cancers de l’enfant ↗Revue d Oncologie Hématologie Pédiatrique · 2015not yet assessed
-
Table 1. [Molecular Genetic Testing Used in Baraitser-Winter Cerebrofrontofacial (BWCFF) Syndrome].2015not yet assessed
-
Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy ↗Nature Genetics · 2015 · PMID 25711872not yet assessed
-
P-275 – Syndrome de Stickler révélé par un syndrome de Pierre Robin: à propos d'un cas ↗Archives de Pédiatrie · 2015not yet assessed
-
P-459 – Le syndrome de Noonan et la myopathie Nemaline: association inconnue ↗Archives de Pédiatrie · 2015not yet assessed
-
Détection d’une mutation homozygote chez 2 patients en Guyane française du nouveau gène de l’albinisme SLC24A5 (AOC 6) ↗Annales de Dermatologie et de Vénéréologie · 2015not yet assessed
-
[Table, GeneReview Scope].2015not yet assessed
-
Table 4. [ACTG1 Selected Pathogenic Allelic Variants].2015not yet assessed
-
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases ↗European Journal of Human Genetics · 2014 · PMID 25052316not yet assessed
-
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy ↗Nature Genetics · 2014 · PMID 25420144not yet assessed
-
Juvenile myelomonocytic leukaemia and Noonan syndrome ↗Journal of Medical Genetics · 2014 · PMID 25097206not yet assessed
-
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome ↗The American Journal of Human Genetics · 2014 · PMID 25466283not yet assessed
-
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects ↗The American Journal of Human Genetics · 2014 · PMID 24462371not yet assessed
-
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 ↗European Journal of Human Genetics · 2014 · PMID 25351778not yet assessed
-
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients ↗Human Mutation · 2014 · PMID 24470203not yet assessed
-
Myhre and LAPS syndromes: clinical and molecular review of 32 patients ↗European Journal of Human Genetics · 2014 · PMID 24424121not yet assessed
-
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene ↗European Journal of Medical Genetics · 2014 · PMID 24613577not yet assessed
-
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification ↗NeuroImage · 2014 · PMID 25107856not yet assessed
-
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10 ↗American Journal of Medical Genetics Part A · 2014 · PMID 24845202not yet assessed
-
De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability ↗American Journal of Medical Genetics Part A · 2014 · PMID 24891185not yet assessed
-
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions ↗Molecular Syndromology · 2014 · PMID 24715852not yet assessed
-
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations ↗American Journal of Medical Genetics Part A · 2014 · PMID 24715367not yet assessed
-
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation ↗American Journal of Medical Genetics Part A · 2014 · PMID 24975584not yet assessed
-
RE(ACT)2014Rare Diseases. 2nd International Congress on Research of Rare and Orphan Diseases. 5th to 8th March 2014, Gehry Building, Novartis Campus, Basel: Abstracts ↗Molecular Syndromology · 2014not yet assessed
-
Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients ↗European Journal of Human Genetics · 2014not yet assessed
-
Faut-il envisager le dépistage néonatal de la maladie de Pompe ? ↗Archives de Pédiatrie · 2014 · PMID 24768068not yet assessed
-
Infantile systemic hyalinosis: Report of the first Guyanese case and review of the literatureEpidemiology Open Access · 2014not yet assessed
-
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (vol 22, pg 1272, 2014)European Journal of Human Genetics · 2014not yet assessed
-
Front & Back Matter ↗Molecular Syndromology · 2014not yet assessed
-
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis ↗Nature Genetics · 2013 · PMID 23354439not yet assessed
-
Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases ↗European Journal of Medical Genetics · 2013 · PMID 24239951not yet assessed
-
Microcephaly ↗Handbook of clinical neurology · 2013 · PMID 23622158not yet assessed
-
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations ↗Nephron Physiology · 2013 · PMID 23434854not yet assessed
-
Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2013 · PMID 23606591not yet assessed
-
Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations ↗European Journal of Human Genetics · 2013 · PMID 23756437not yet assessed
-
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia ↗American Journal of Medical Genetics Part A · 2013 · PMID 23401279not yet assessed
-
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders2013not yet assessed
-
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome ↗Molecular Autism · 2013 · PMID 23972161not yet assessed
-
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability ↗European Journal of Human Genetics · 2013 · PMID 23695276not yet assessed
-
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients ↗European Journal of Cancer · 2013 · PMID 23855994not yet assessed
-
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser–Winter syndrome ↗European Journal of Medical Genetics · 2013 · PMID 24211661not yet assessed
-
Mutations in the PTPN11 Gene The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of2013not yet assessed
-
Developmental anomalies of the lids ↗Elsevier eBooks · 2013not yet assessed
-
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features ↗European Journal of Medical Genetics · 2013 · PMID 23337768not yet assessed
-
The development of a clinical screening tool for tumour predisposition syndromes in childhood cancer patients ↗Tijdschrift voor kindergeneeskunde · 2013not yet assessed
-
Femoral-facial syndrome: long term follow-up and associated array CGH abnormalities.2013not yet assessed
-
Femoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.ORBi (University of Liège) · 2013not yet assessed
-
Table 1. [Summary of Molecular Genetic Testing Used in MCPH-SCKS Spectrum Disorders].2013not yet assessed
-
Table 2. [Studies Related to MCPH/SCKS Types].2013not yet assessed
-
Table 4. [Types of Classic Lissencephaly and Associated Genes].2013not yet assessed
-
Table 3. [Proportion of the Genes Most Likely to be Mutated in the Populations Studied].2013not yet assessed
-
List of Contributors ↗Elsevier eBooks · 2013not yet assessed
-
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome ↗Nature Genetics · 2012 · PMID 22366783not yet assessed
-
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis ↗Human Molecular Genetics · 2012 · PMID 22388936not yet assessed
-
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities ↗Cell Reports · 2012 · PMID 23246003not yet assessed
-
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 ↗Journal of Medical Genetics · 2012 · PMID 22510444not yet assessed
-
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes ↗Journal of Medical Genetics · 2012 · PMID 22773737not yet assessed
-
Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene ↗American Journal of Medical Genetics Part A · 2012 · PMID 22903608not yet assessed
-
Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features ↗Human Mutation · 2012 · PMID 22290657not yet assessed
-
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype ↗PLoS ONE · 2012 · PMID 22412832not yet assessed
-
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother ↗European Journal of Human Genetics · 2012 · PMID 22234155not yet assessed
-
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia ↗American Journal of Medical Genetics Part A · 2012 · PMID 22887781not yet assessed
-
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies ↗European Journal of Human Genetics · 2012 · PMID 22234157not yet assessed
-
Clinical utility gene card for: Rothmund–Thomson syndrome ↗European Journal of Human Genetics · 2012 · PMID 23188052not yet assessed
-
Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene ↗Clinical Genetics · 2012 · PMID 23061425not yet assessed
-
Stratégie d’exploration d’une déficience intellectuelle inexpliquée ↗Archives de Pédiatrie · 2012 · PMID 22245660not yet assessed
-
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication ↗American Journal of Medical Genetics Part A · 2012 · PMID 22821638not yet assessed
-
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines) ↗American Journal of Medical Genetics Part A · 2012 · PMID 22528600not yet assessed
-
A new lysosomal storage disorder resembling Morquio syndrome in sibs ↗European Journal of Medical Genetics · 2012 · PMID 22330346not yet assessed
-
Erratum: Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother ↗European Journal of Human Genetics · 2012not yet assessed
-
Baraitser-Winter syndrome: delineation of the phenotypic spectrum in a large series of molecularly defined patientsGenetic counseling · 2012not yet assessed
-
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 geneticsGenetic counseling · 2012not yet assessed
-
Pseudoaminopterin syndrome ↗American Journal of Medical Genetics Part A · 2012 · PMID 22811276not yet assessed
-
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome ↗Nature Genetics · 2011 · PMID 22158539not yet assessed
-
Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? ↗American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · PMID 21495173not yet assessed
-
Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome ↗European Journal of Medical Genetics · 2011 · PMID 22226660not yet assessed
-
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia ↗Clinical Genetics · 2011 · PMID 21517826not yet assessed
-
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia ↗European Journal of Human Genetics · 2011 · PMID 21224895not yet assessed
-
Clinical utility gene card for: WAGR syndrome ↗European Journal of Human Genetics · 2011 · PMID 21224893not yet assessed
-
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling ↗Journal of Clinical Investigation · 2011 · PMID 21737879not yet assessed
-
A familial syndromal form of omphalocele ↗European Journal of Medical Genetics · 2011 · PMID 21333766not yet assessed
-
Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis ↗Fetal and Pediatric Pathology · 2011 · PMID 21204662not yet assessed
-
Clinical utility gene card for: CHARGE syndrome ↗European Journal of Human Genetics · 2011 · PMID 21407266not yet assessed
-
A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic Twin ↗PEDIATRICS · 2011 · PMID 21746725not yet assessed
-
3FC2.1 ASPM mutations differentially affect different areas of the cortex; Implications for the definition of microcephalia vera ↗European Journal of Paediatric Neurology · 2011not yet assessed
-
2FC4.2 VIP blockade disrupts Mcph1-Chk1 signaling and leads to microcephaly in mice ↗European Journal of Paediatric Neurology · 2011not yet assessed
-
WDR62 is associated with the spindle pole and is mutated in human microcephaly ↗Nature Genetics · 2010 · PMID 20890279not yet assessed
-
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia ↗Journal of Medical Genetics · 2010 · PMID 20543203not yet assessed
-
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis ↗American Journal of Medical Genetics Part A · 2010 · PMID 20583184not yet assessed
-
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease ↗Human Genetics · 2010 · PMID 20177705not yet assessed
-
Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation ↗Human Mutation · 2010 · PMID 20052757not yet assessed
-
Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13 ↗The American Journal of Human Genetics · 2010 · PMID 20602915not yet assessed
-
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2) ↗Human Genetics · 2010 · PMID 20424861not yet assessed
-
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients ↗European Journal of Medical Genetics · 2010 · PMID 20599530not yet assessed
-
A hereditary moyamoya syndrome with multisystemic manifestations ↗Neurology · 2010 · PMID 20644152not yet assessed
-
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes ↗European Journal of Medical Genetics · 2010 · PMID 21044901not yet assessed
-
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? ↗Clinical Genetics · 2010 · PMID 20331678not yet assessed
-
CEMARA an information system for rare diseases ↗Studies in health technology and informatics · 2010 · PMID 20841733not yet assessed
-
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 ↗Journal of Medical Genetics · 2010 · PMID 20656880not yet assessed
-
Craniosynostosis: A rare complication of pycnodysostosis ↗European Journal of Medical Genetics · 2010 · PMID 20044043not yet assessed
-
Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features ↗European Journal of Medical Genetics · 2010 · PMID 21094707not yet assessed
-
Temple–Baraitser syndrome: A rare and possibly unrecognized condition ↗American Journal of Medical Genetics Part A · 2010 · PMID 20683999not yet assessed
-
Congenital absence of the left pericardium and diaphragmatic defect in sibs ↗European Journal of Medical Genetics · 2010 · PMID 20219701not yet assessed
-
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency ↗American Journal of Medical Genetics Part A · 2010 · PMID 20949627not yet assessed
-
Syndrome de Kabuki en milieu tropical chez un nourrisson hospitalisé pour diarrhée et stagnation pondérale ↗Archives de Pédiatrie · 2010 · PMID 20138485not yet assessed
-
Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly ↗American Journal of Medical Genetics Part A · 2010 · PMID 20949544not yet assessed
-
Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation ↗European Journal of Pediatrics · 2010 · PMID 20865280not yet assessed
-
Syndrome de Noonan et apparentés ↗Médecine thérapeutique / Médecine de la reproduction, gynécologie et endocrinologie · 2010not yet assessed
-
How to deal with hypodontia and oligodontia in geneticsGenetic counseling · 2010not yet assessed
-
Many roads lead to primary autosomal recessive microcephaly ↗Progress in Neurobiology · 2009 · PMID 19931588not yet assessed
-
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders ↗Biological Psychiatry · 2009 · PMID 19278672not yet assessed
-
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) ↗Journal of Medical Genetics · 2009 · PMID 19574260not yet assessed
-
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families ↗Journal of Medical Genetics · 2009 · PMID 19643772not yet assessed
-
Elements of morphology: Standard terminology for the lips, mouth, and oral region ↗American Journal of Medical Genetics Part A · 2009 · PMID 19125428not yet assessed
-
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects ↗European Journal of Human Genetics · 2009 · PMID 19367324not yet assessed
-
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations ↗Neurology · 2009 · PMID 19770472not yet assessed
-
Nicolaides–Baraitser syndrome: Delineation of the phenotype ↗American Journal of Medical Genetics Part A · 2009 · PMID 19606471not yet assessed
-
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3 ↗European Journal of Medical Genetics · 2009 · PMID 19454329not yet assessed
-
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions ↗European Journal of Human Genetics · 2009 · PMID 19352411not yet assessed
-
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series ↗European Journal of Medical Genetics · 2009 · PMID 19878743not yet assessed
-
Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome ↗American Journal of Medical Genetics Part A · 2009 · PMID 20034071not yet assessed
-
Binder phenotype: clinical and etiological heterogeneity of the so‐called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature ↗Prenatal Diagnosis · 2009 · PMID 19156647not yet assessed
-
Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome ↗American Journal of Medical Genetics Part A · 2009 · PMID 19449422not yet assessed
-
Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review ↗American Journal of Medical Genetics Part A · 2009 · PMID 19504604not yet assessed
-
Autism, language delay and mental retardation in a patient with 7q11 duplication ↗BMJ Case Reports · 2009 · PMID 21686962not yet assessed
-
Poikiloderma, Alopecia, Retrognathism and Cleft Palate: The PARC Syndrome ↗Dermatologica · 2009 · PMID 2242783not yet assessed
-
Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication ↗American Journal of Medical Genetics Part A · 2009 · PMID 19938079not yet assessed
-
Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course ↗American Journal of Medical Genetics Part A · 2009 · PMID 19725128not yet assessed
-
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: New cases of “polyvalvular heart disease syndrome” or new association? ↗European Journal of Medical Genetics · 2009 · PMID 19932204not yet assessed
-
Etude des manifestations cardiovasculaires chez les patients présentant un syndrome de Noonan porteurs de mutation au sein du gène PTPN11: rôles des gènes de la voie de signalisation des MAP kinases pour les syndromes apparentésDépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) · 2009not yet assessed
-
CEMARA: une plate-forme Web pour les maladies rares ↗Informatique et santé · 2009not yet assessed
-
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’ clinica2009not yet assessed
-
The mutation spectrum in RECQL4 diseases ↗European Journal of Human Genetics · 2008 · PMID 18716613not yet assessed
-
The genetic basis of inherited anomalies of the teeth ↗European Journal of Medical Genetics · 2008 · PMID 18499550not yet assessed
-
The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement ↗European Journal of Medical Genetics · 2008 · PMID 18599376not yet assessed
-
MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement ↗Human Mutation · 2008 · PMID 19058225not yet assessed
-
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome ↗Journal of Human Genetics · 2008 · PMID 18651097not yet assessed
-
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. ↗PubMed · 2008 · PMID 18487707not yet assessed
-
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia ↗European Journal of Human Genetics · 2008 · PMID 18197200not yet assessed
-
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome ↗American Journal of Medical Genetics Part A · 2008 · PMID 18553551not yet assessed
-
Le syndrome de Smith-Magenis ↗Devenir · 2008not yet assessed
-
Cemara : épidémiologie des maladies rares et système d’information ↗Revue d Épidémiologie et de Santé Publique · 2008not yet assessed
-
Exploration raisonnée d’un handicap mental ↗Archives de Pédiatrie · 2008 · PMID 18582722not yet assessed
-
Pathologies d’activation de la voie RAS : du syndrome de Noonan aux leucémies myélomonocytaires juvéniles ↗Archives de Pédiatrie · 2008 · PMID 18582761not yet assessed
-
gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel2008not yet assessed
-
Le syndrome de Smith-Magenis Smith-Magenis Syndrome: an original genetic disease2008not yet assessed
-
BBS12, une nouvelle protéine verébrée spécifique impliquée dans le syndre de Bardet-Biedl2008not yet assessed
-
Axenfeld-rieger patients: does the dental and ophthalmic phenotype reflect the molecular diagnosis?Genetic counseling · 2008not yet assessed
-
Iconography : Le point sur le syndrome de Bardet-Biedl2008not yet assessed
-
CHARGE syndrome: an update ↗European Journal of Human Genetics · 2007 · PMID 17299439not yet assessed
-
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly ↗American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2007 · PMID 17427195not yet assessed
-
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome ↗Journal of Medical Genetics · 2007 · PMID 17704260not yet assessed
-
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene ↗Journal of Medical Genetics · 2007 · PMID 17369503not yet assessed
-
Brain anomalies in encephalocraniocutaneous lipomatosis ↗American Journal of Medical Genetics Part A · 2007 · PMID 18000987not yet assessed
-
The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene ↗PEDIATRICS · 2007 · PMID 17515436not yet assessed
-
Autism, language delay and mental retardation in a patient with 7q11 duplication ↗Journal of Medical Genetics · 2007 · PMID 17400790not yet assessed
-
Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability ↗Clinical Genetics · 2007 · PMID 17661815not yet assessed
-
Spectrum of epilepsy in terminal 1p36 deletion syndrome ↗Epilepsia · 2007 · PMID 18031548not yet assessed
-
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome ↗American Journal of Medical Genetics Part A · 2007 · PMID 17366577not yet assessed
-
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene ↗American Journal of Medical Genetics Part A · 2007 · PMID 17546652not yet assessed
-
Lissencéphalies : aspects cliniques et génétiques ↗Revue Neurologique · 2007 · PMID 17571022not yet assessed
-
Bardet-Biedl Syndrome and Brain Abnormalities ↗Neuropediatrics · 2007 · PMID 17607597not yet assessed
-
Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening ↗Prenatal Diagnosis · 2007 · PMID 17705236not yet assessed
-
Precocious puberty associated with partial trisomy 18q and monosomy 11q. ↗PubMed · 2007 · PMID 17710872not yet assessed
-
Lissencephaly, Genetics of ↗Encyclopedia of Life Sciences · 2007not yet assessed
-
375 Dermoïde conjonctivo-limbique et Syndrome de Delleman ↗Journal Français d Ophtalmologie · 2007not yet assessed
-
La voie de signalisation de RAS et ses syndromes (Noonan, LEOPARD, CFC, Costello) ↗Archives de Pédiatrie · 2007 · PMID 17418545not yet assessed
-
Le chromosome XLa Presse Médicale · 2007not yet assessed
-
Opitz-Kaveggia (FG) and Lujan syndromes are allelic having mutations in the MED12 geneEuropean Journal of Human Genetics · 2007not yet assessed
-
[X chromosome]. ↗PubMed · 2007 · PMID 17546761not yet assessed
-
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome ↗Nature Genetics · 2006 · PMID 16474404not yet assessed
-
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus ↗Nature Genetics · 2006 · PMID 16582908not yet assessed
-
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome ↗The American Journal of Human Genetics · 2006 · PMID 17160889not yet assessed
-
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 ↗American Journal of Medical Genetics Part A · 2006 · PMID 16700052not yet assessed
-
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome ↗Journal of Medical Genetics · 2006 · PMID 16648375not yet assessed
-
Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome ↗Clinical Genetics · 2006 · PMID 16813605not yet assessed
-
Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome ↗Molecular and Cellular Endocrinology · 2006 · PMID 16723183not yet assessed
-
Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family ↗American Journal of Medical Genetics Part A · 2006 · PMID 17163542not yet assessed
-
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region ↗European Journal of Human Genetics · 2006 · PMID 16724010not yet assessed
-
Orofaciodigital syndrome with cerebral dysgenesis ↗American Journal of Medical Genetics Part A · 2006 · PMID 16502430not yet assessed
-
Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus ↗Nature Genetics · 2006not yet assessed
-
Chromosome 12 Open Reading Frame 582006not yet assessed
-
[Tall stature: some classical syndromes]. ↗PubMed · 2006 · PMID 17020230not yet assessed
-
Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus ↗Nature Genetics · 2006not yet assessed
-
Updated diagnostic criteria for CHARGE syndrome: A proposal ↗American Journal of Medical Genetics Part A · 2005 · PMID 15666308not yet assessed
-
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification ↗Journal of Autism and Developmental Disorders · 2005 · PMID 15796126not yet assessed
-
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene ↗Journal of Medical Genetics · 2005 · PMID 15964893not yet assessed
-
Should chromosome breakage studies be performed in patients with VACTERL association? ↗American Journal of Medical Genetics Part A · 2005 · PMID 16015582not yet assessed
-
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort ↗European Journal of Human Genetics · 2005 · PMID 15770229not yet assessed
-
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)? ↗American Journal of Medical Genetics Part A · 2005 · PMID 16096999not yet assessed
-
Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion ↗European Journal of Human Genetics · 2005 · PMID 15702131not yet assessed
-
Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome ↗European Journal of Human Genetics · 2005 · PMID 15770228not yet assessed
-
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families ↗Journal of Human Genetics · 2005 · PMID 16308660not yet assessed
-
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins ↗American Journal of Medical Genetics Part A · 2005 · PMID 15779023not yet assessed
-
ADe NovoMutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone ↗The Journal of Clinical Endocrinology & Metabolism · 2005 · PMID 15598685not yet assessed
-
Le point sur le syndrome de Bardet-Biedl ↗Journal Français d Ophtalmologie · 2005 · PMID 15767906not yet assessed
-
Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis ↗American Journal of Medical Genetics Part A · 2005 · PMID 15988748not yet assessed
-
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome? ↗American Journal of Medical Genetics Part A · 2005 · PMID 16086393not yet assessed
-
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy ↗Journal of Neurology · 2005 · PMID 15729534not yet assessed
-
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome? ↗European Journal of Medical Genetics · 2005 · PMID 16378921not yet assessed
-
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria ↗American Journal of Medical Genetics Part A · 2005 · PMID 16097005not yet assessed
-
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy ↗Human Molecular Genetics · 2004 · PMID 15317753not yet assessed
-
Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13 ↗Circulation · 2004 · PMID 15096456not yet assessed
-
Further delineation of Kabuki syndrome in 48 well‐defined new individuals ↗American Journal of Medical Genetics Part A · 2004 · PMID 15690370not yet assessed
-
Dysmorphology and the orbital region: a practical clinical approach ↗Survey of Ophthalmology · 2004 · PMID 15530943not yet assessed
-
Dysmorphology and the orbital region: a practical clinical approach ↗Survey of Ophthalmology · 2004not yet assessed
-
Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome ↗American Journal of Medical Genetics Part A · 2004 · PMID 15150779not yet assessed
-
Classical West “syndrome” phenotype with a subtelomeric 4p trisomy ↗American Journal of Medical Genetics Part A · 2004 · PMID 15378535not yet assessed
-
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias ↗Clinical Dysmorphology · 2004 · PMID 15365455not yet assessed
-
New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations ↗American Journal of Medical Genetics Part A · 2004 · PMID 15264289not yet assessed
-
Hypertrichosis, Fallot tetralogy, growth and developmental delay ↗Clinical Dysmorphology · 2004 · PMID 15365462not yet assessed
-
[Spondylocostal dysostosis: a rare genetic disease]. ↗PubMed · 2004 · PMID 15562550not yet assessed
-
[Problems caused by genetic diseases. Part 3: Chromosomal disorders: trisomy 21]. ↗PubMed · 2004 · PMID 15461058not yet assessed
-
Should chromosome breakage studies be performed in patients with VACTERL syndromeResearch Portal (King's College London) · 2004not yet assessed
-
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature ↗European Journal of Human Genetics · 2003 · PMID 12774038not yet assessed
-
Familial abdominal aortic aneurysms: Collection of 233 multiplex families ↗Journal of Vascular Surgery · 2003 · PMID 12563204not yet assessed
-
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) ↗European Journal of Pediatrics · 2003 · PMID 14648217not yet assessed
-
Nicolaides???Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals ↗Clinical Dysmorphology · 2003 · PMID 14564210not yet assessed
-
MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation ↗American Journal of Medical Genetics Part A · 2003 · PMID 14598336not yet assessed
-
MECP2 Mutations or Polymorphisms in Mentally Retarded Boys ↗Molecular Diagnosis · 2003 · PMID 14529314not yet assessed
-
Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p) ↗American Journal of Medical Genetics Part A · 2003 · PMID 12955773not yet assessed
-
Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review ↗American Journal of Medical Genetics Part A · 2003 · PMID 12955763not yet assessed
-
A congenital left ventricular diverticulum combined with a complex malformation syndrome ↗Acta Cardiologica · 2003 · PMID 12846510not yet assessed
-
Phénotypes psycho-comportementaux de l'enfant et de l'adolescent dans les syndromes microdélétionnels ↗Annales Médico-psychologiques revue psychiatrique · 2003not yet assessed
-
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome? ↗Annales de Génétique · 2003 · PMID 14659780not yet assessed
-
Severely delayed epiphyseal ossification dysplasia with normal stature ↗American Journal of Medical Genetics Part A · 2003 · PMID 12884438not yet assessed
-
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis ↗The American Journal of Human Genetics · 2002 · PMID 11781872not yet assessed
-
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy ↗Journal of Medical Genetics · 2002 · PMID 12362029not yet assessed
-
Clinical and genetic heterogeneity of Seckel syndrome ↗American Journal of Medical Genetics · 2002 · PMID 12376940not yet assessed
-
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly ↗American Journal of Medical Genetics · 2002 · PMID 12244556not yet assessed
-
Spondylometaphyseal dysplasia, east‐African Type: A new form of early, severe SMD with rounded vertebrae ↗American Journal of Medical Genetics · 2002 · PMID 12457408not yet assessed
-
Candidate locus for familial abdominal aortic aneurysms by genome-wide DNA linkage analysisORBi (University of Liège) · 2002not yet assessed
-
A dominantly inherited syndrome with frontonasal malformation Variant of Teebi hypertelorism syndrome or new entity2002not yet assessed
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome ↗Nature Genetics · 2001 · PMID 11175783not yet assessed
-
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation ↗The American Journal of Human Genetics · 2001 · PMID 11462173not yet assessed
-
Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test? ↗European Journal of Human Genetics · 2001 · PMID 11175292not yet assessed
-
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease ↗Human Genetics · 2001 · PMID 11810278not yet assessed
-
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes ↗Human Genetics · 2001 · PMID 11702209not yet assessed
-
Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita ↗Journal of Investigative Dermatology · 2001 · PMID 11886499not yet assessed
-
Infantile autophagic vacuolar myopathy is distinct from Danon disease ↗Neurology · 2001 · PMID 11552028not yet assessed
-
Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome ↗American Journal of Medical Genetics · 2001 · PMID 11170088not yet assessed
-
Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia ↗American Journal of Medical Genetics · 2001 · PMID 11424135not yet assessed
-
Mosaic trisomy 15 and hemihypertrophy ↗Annales de Génétique · 2001 · PMID 11694227not yet assessed
-
New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy ↗Clinical Dysmorphology · 2001 · PMID 11152144not yet assessed
-
Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens ↗Annales de Génétique · 2001 · PMID 11522241not yet assessed
-
Images in cardiology ↗Acta Cardiologica · 2001 · PMID 11315124not yet assessed
-
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations ↗Annals of Neurology · 2000 · PMID 10852545not yet assessed
-
Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia ↗American Journal of Medical Genetics · 2000 · PMID 10706363not yet assessed
-
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations ↗Annals of Neurology · 2000not yet assessed
-
Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity ↗American Journal of Medical Genetics · 2000 · PMID 10861677not yet assessed
-
GOMBO syndrome: Another ?pseudorecessive? disorder due to a cryptic translocation ↗American Journal of Medical Genetics · 2000 · PMID 11078574not yet assessed
-
Agenesis of the corpus callosum, camptodactyly and obesity. ↗PubMed · 2000 · PMID 10826621not yet assessed
-
GOMBO syndrome: Another “pseudorecessive” disorder due to a cryptic translocation ↗American Journal of Medical Genetics · 2000not yet assessed
-
[How I investigate...fetal pathology. Technique and value of the fetal and placental examination and the perinatal autopsy]. ↗PubMed · 2000 · PMID 11014110not yet assessed
-
Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity ↗American Journal of Medical Genetics · 2000not yet assessed
-
New dysostosis showing multilevel absence of vertebral pedicles: Unique developmental anomaly of vertebral arches? ↗American Journal of Medical Genetics · 2000 · PMID 11146469not yet assessed
-
New dysostosis showing multilevel absence of vertebral pedicles: Unique developmental anomaly of vertebral arches? ↗American Journal of Medical Genetics · 2000not yet assessed
-
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes ↗Journal of Medical Genetics · 1999 · PMID 10465109not yet assessed
-
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases ↗Human Mutation · 1999 · PMID 9888389not yet assessed
-
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance ↗American Journal of Medical Genetics · 1999 · PMID 10405446not yet assessed
-
Familial Acromegaly: Case Report and Review of the Literature ↗Pituitary · 1999 · PMID 11081208not yet assessed
-
Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms ↗Matrix Biology · 1999 · PMID 10372551not yet assessed
-
Cardiac anomalies associated with congenital absence of the portal vein ↗Cardiology in the Young · 1999 · PMID 10535837not yet assessed
-
Cardiac involvement in Coffin-Lowry syndrome ↗Acta Paediatrica · 1999 · PMID 10342551not yet assessed
-
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance ↗American Journal of Medical Genetics · 1999not yet assessed
-
Cardiac involvement in Coffin‐Lowry syndrome ↗Acta Paediatrica · 1999not yet assessed
-
Koraxitrachitic syndrome: A syndromic form of self-healing collodion baby with residual dappled atrophy of the derma ↗American Journal of Medical Genetics · 1999 · PMID 10508988not yet assessed
-
[Genetic counseling and prenatal diagnosis]. ↗PubMed · 1999 · PMID 10394235not yet assessed
-
[Aorto-pulmonary collaterals in an infant with 22q11 monosomy]. ↗PubMed · 1999 · PMID 12555381not yet assessed
-
Koraxitrachitic syndrome: A syndromic form of self‐healing collodion baby with residual dappled atrophy of the derma ↗American Journal of Medical Genetics · 1999not yet assessed
-
Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis ↗The American Journal of Human Genetics · 1998 · PMID 9529353not yet assessed
-
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review ↗American Journal of Medical Genetics · 1998 · PMID 9482645not yet assessed
-
Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. ↗Journal of Medical Genetics · 1998 · PMID 9832043not yet assessed
-
Pfeiffer syndrome type 2: further delineation and review of the literature. ↗PubMed · 1998 · PMID 9475590not yet assessed
-
Pfeiffer syndrome type 2: Further delineation and review of the literature ↗American Journal of Medical Genetics · 1998not yet assessed
-
Bruck syndrome: neonatal presentation and natural course in three patients ↗Pediatric Radiology · 1998 · PMID 9799301not yet assessed
-
Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples ↗Prenatal Diagnosis · 1998 · PMID 9826895not yet assessed
-
Pathogenesis of Abdominal Aortic Aneurysm (AAA) Formation ↗Acta chirurgica Belgica · 1998 · PMID 9830543not yet assessed
-
[Clinical case of the month. A male with 46,XX karyotype]. ↗PubMed · 1998 · PMID 9834672not yet assessed
-
Central nervous system malformations and early end‐stage renal disease in oro‐facio‐digital syndrome type I: A review ↗American Journal of Medical Genetics · 1998not yet assessed
-
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]. ↗PubMed · 1998 · PMID 9689890not yet assessed
-
Further delineation of the Verloes-Koulischer-oro-acral Syndrome ↗American Journal of Medical Genetics · 1998 · PMID 9880226not yet assessed
-
[Genetic aspects of the 46, XX male]. ↗PubMed · 1998 · PMID 9927868not yet assessed
-
Genetic analysis of adult onset neuronal ceroid lipofuscinosis (Kufs' disease)UCL Discovery (University College London) · 1998not yet assessed
-
Pfeiffer syndrome type 2: Further delineation and review of the literature ↗American Journal of Medical Genetics · 1998not yet assessed
-
Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. ↗Journal of Medical Genetics · 1997 · PMID 9321763not yet assessed
-
Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies ↗American Journal of Medical Genetics · 1997 · PMID 9021008not yet assessed
-
Coloboma, mental retardation, hypogonadism, and obesity: Critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three “new” syndromes ↗American Journal of Medical Genetics · 1997 · PMID 9098485not yet assessed
-
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form ↗American Journal of Medical Genetics · 1997 · PMID 9382133not yet assessed
-
Feingold syndrome: Report of a new family and review ↗American Journal of Medical Genetics · 1997 · PMID 9375923not yet assessed
-
A new form of mandibulofacial dysostosis with macroblepharon and macrostomia ↗Clinical Dysmorphology · 1997not yet assessed
-
Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome ↗American Journal of Medical Genetics · 1997 · PMID 9409861not yet assessed
-
Genetic risk in natural and medically assisted procreation. ↗PubMed · 1997 · PMID 10086066not yet assessed
-
Feingold syndrome: Report of a new family and review ↗American Journal of Medical Genetics · 1997not yet assessed
-
Osteocraniostenosis vs. severe Hallermann-Streiff-François syndrome ↗American Journal of Medical Genetics · 1997 · PMID 8986288not yet assessed
-
A new form of mandibulofacial dysostosis with macroblepharon and macrostomia. ↗PubMed · 1997 · PMID 9018413not yet assessed
-
Microcephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology ↗American Journal of Medical Genetics · 1997 · PMID 9021021not yet assessed
-
L'isolation des cellules fœtales en circulation dans le sang maternel: mise au point ↗Immuno-analyse & Biologie Spécialisée · 1997not yet assessed
-
Délétion du gène SMN dans l'association arthrogrypose-amyotrophie spinale infantile ↗Archives de Pédiatrie · 1997not yet assessed
-
Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samplesOpen Repository and Bibliography (University of Liège) · 1997not yet assessed
-
Osteocraniostenosis vs. severe Hallermann‐Streiff‐François syndrome ↗American Journal of Medical Genetics · 1997not yet assessed
-
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form ↗American Journal of Medical Genetics · 1997not yet assessed
-
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. ↗Journal of Clinical Investigation · 1996 · PMID 8787675not yet assessed
-
Report from the workshop on Pallister-Hall syndrome and related phenotypes ↗American Journal of Medical Genetics · 1996 · PMID 8914745not yet assessed
-
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. ↗Journal of Medical Genetics · 1996 · PMID 8782042not yet assessed
-
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly ↗Clinical Genetics · 1996 · PMID 8721563not yet assessed
-
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis? ↗American Journal of Medical Genetics · 1996 · PMID 8779315not yet assessed
-
Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase‐Smith syndrome? ↗Clinical Genetics · 1996 · PMID 9001811not yet assessed
-
Genetic Aspects of Abdominal Aortic Aneurysm ↗Annals of the New York Academy of Sciences · 1996 · PMID 8958981not yet assessed
-
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. ↗PubMed · 1996 · PMID 9009364not yet assessed
-
Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome. ↗PubMed · 1996 · PMID 8985731not yet assessed
-
Ocular manifestations in Dellemans syndrome and encephalocraniocutaneous lipomatosis. Report of three casesGhent University Academic Bibliography (Ghent University) · 1996not yet assessed
-
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis? ↗American Journal of Medical Genetics · 1996not yet assessed
-
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees ↗Journal of Vascular Surgery · 1995 · PMID 7707569not yet assessed
-
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. ↗Journal of Medical Genetics · 1995 · PMID 7473651not yet assessed
-
Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall ↗Clinical Genetics · 1995 · PMID 7554352not yet assessed
-
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis ↗American Journal of Medical Genetics · 1995 · PMID 7717419not yet assessed
-
Numerical syndromology: A mathematical approach to the nosology of complex phenotypes ↗American Journal of Medical Genetics · 1995 · PMID 7762583not yet assessed
-
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome? ↗PubMed · 1995 · PMID 7735503not yet assessed
-
Phenotypic variability in van der Woude syndrome. ↗PubMed · 1995 · PMID 8588850not yet assessed
-
A prenatal trisomy 21 screening program using α-fetoprotein, human chorionic gonadotropin, and free estriol assays on maternal dried blood ↗American Journal of Obstetrics and Gynecology · 1995 · PMID 7531397not yet assessed
-
Cytogenetic study of bovine oocytes matured in vitro ↗Theriogenology · 1995 · PMID 16727743not yet assessed
-
Myhre‐GOMBO syndrome: Possible lumping of two “old” new syndromes? ↗American Journal of Medical Genetics · 1995 · PMID 8585577not yet assessed
-
Opitz GBBB syndrome: Chromosomal evidence of an X‐linked form ↗American Journal of Medical Genetics · 1995 · PMID 8849003not yet assessed
-
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. ↗PubMed · 1995 · PMID 7847392not yet assessed
-
Caractéristiques neuroradiologiques du déficit en Pyruvate CarboxylaseOpen Repository and Bibliography (University of Liège) · 1995not yet assessed
-
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients ↗European Journal of Pediatrics · 1994 · PMID 8088300not yet assessed
-
Osteocraniostenosis. ↗Journal of Medical Genetics · 1994 · PMID 7837254not yet assessed
-
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients ↗European Journal of Pediatrics · 1994not yet assessed
-
Hypertelorism-microtia-clefting (HMC) syndrome. ↗PubMed · 1994 · PMID 7811429not yet assessed
-
Severe acrocallosal syndrome or acromelic frontonasal dysplasia? ↗American Journal of Medical Genetics · 1994 · PMID 8080574not yet assessed
-
Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits ↗Clinical Dysmorphology · 1994 · PMID 8055137not yet assessed
-
Sponastrime dysplasia with mental retardation: A distinct entityOpen Repository and Bibliography (University of Liège) · 1994not yet assessed
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Familial aspects in acromegalyORBi (University of Liège) · 1994not yet assessed
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Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? ↗Journal of Medical Genetics · 1993 · PMID 8320709not yet assessed
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Ondine-Hirschsprung syndrome (Haddad syndrome) ↗European Journal of Pediatrics · 1993 · PMID 8444212not yet assessed
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Heterogeneity versus variability in megalocornea‐mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types ↗American Journal of Medical Genetics · 1993 · PMID 8484397not yet assessed
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Schinzel-Giedion syndrome ↗European Journal of Pediatrics · 1993 · PMID 8319710not yet assessed
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Brachymorphism-onychodysplasia-dysphalangism syndrome. ↗Journal of Medical Genetics · 1993 · PMID 8445623not yet assessed
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Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. ↗PubMed · 1993 · PMID 8267926not yet assessed
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Pseudoaminopterin syndrome ↗American Journal of Medical Genetics · 1993 · PMID 8357010not yet assessed
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Monosomy 11q: Report of two familial cases and review of the literature ↗American Journal of Medical Genetics · 1993 · PMID 8135272not yet assessed
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Syndrome oculo-cérébro-cutané de DellemanOpen Repository and Bibliography (University of Liège) · 1993not yet assessed
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Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature ↗American Journal of Medical Genetics · 1992 · PMID 1605246not yet assessed
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Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome) ↗American Journal of Medical Genetics · 1992 · PMID 1733166not yet assessed
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Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome? ↗Clinical Genetics · 1992 · PMID 1633641not yet assessed
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Glaucoma‐lens ectopia‐microspherophakia‐stiffness‐shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill‐Marchesani syndromes ↗American Journal of Medical Genetics · 1992 · PMID 1519650not yet assessed
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Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro‐Acro‐Visceral Early lethality (CAVE) multiplex syndrome ↗American Journal of Medical Genetics · 1992 · PMID 1621756not yet assessed
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The orocraniodigital syndrome of Juberg and Hayward. ↗Journal of Medical Genetics · 1992 · PMID 1583649not yet assessed
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Dermatopathological aspects of restrictive dermopathy ↗The Journal of Pathology · 1992 · PMID 1353115not yet assessed
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Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity ↗Pediatric Neurology · 1992 · PMID 1476577not yet assessed
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Lumping of CFC and Baraitser‐Patton Noonan‐Like syndromes ↗American Journal of Medical Genetics · 1992 · PMID 1632454not yet assessed
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Non‐radioactive assay of AFP, hCG, and uE3 from dried blood specimens: A low‐cost alternative for maternal screening for trisomy 21 ↗Prenatal Diagnosis · 1992 · PMID 1283787not yet assessed
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New oral‐acral syndrome with partial agenesis of the maxillary bones ↗American Journal of Medical Genetics · 1992 · PMID 1481817not yet assessed
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Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child. ↗PubMed · 1992 · PMID 1388935not yet assessed
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Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. ↗Journal of Medical Genetics · 1991 · PMID 1865466not yet assessed
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Metaphyseal acroscyphodysplasia ↗Clinical Genetics · 1991 · PMID 1860252not yet assessed
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Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria ↗The Journal of Pediatrics · 1991 · PMID 1710267not yet assessed
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PRENATAL DIAGNOSIS OF CYSTIC HYGROMA AND CHORIOANGIOMA IN THE WOLF‐HIRSCHHORN SYNDROME ↗Prenatal Diagnosis · 1991 · PMID 2062819not yet assessed
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Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course ↗American Journal of Medical Genetics · 1991 · PMID 1867263not yet assessed
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Branchial arch anomalies in trisomy 18. ↗PubMed · 1991 · PMID 1952786not yet assessed
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Enzyme immunoassay screening of alpha 1-antitrypsin in dried blood spots from 39 289 newborns ↗Clinical Chemistry · 1991 · PMID 2049845not yet assessed
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A hydropic fetus with translucent ribs, arthrogryposis multiplex congenita and congenital myopathy: etiological heterogeneity of A.M.C., Toriello-Bauserman type? ↗PubMed · 1991 · PMID 1741979not yet assessed
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X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus ↗Human Genetics · 1991 · PMID 1937466not yet assessed
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Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities. ↗PubMed · 1991 · PMID 1781957not yet assessed
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Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? ↗PubMed · 1991 · PMID 1952787not yet assessed
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Familial neuronal heterotopias as cerebral palsy. An inherited disorder of brain histogenesisOpen Repository and Bibliography (University of Liège) · 1991not yet assessed
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[Prenatal screening for trisomy 21 in maternal blood. Focus]. ↗PubMed · 1991 · PMID 1722586not yet assessed
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Proximal phocomelia and radial ray aplasia in fetal valproic syndrome ↗European Journal of Pediatrics · 1990 · PMID 2105893not yet assessed
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Cutaneous presentation of the cardio-facio-cutaneous syndrome ↗Journal of the American Academy of Dermatology · 1990 · PMID 2335585not yet assessed
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Lambotte syndrome: Microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality—A new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs ↗American Journal of Medical Genetics · 1990 · PMID 2240028not yet assessed
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Trisomy 20q. A new case and further phenotypic delineation ↗Clinical Genetics · 1990 · PMID 2191794not yet assessed
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Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. ↗Journal of Medical Genetics · 1990 · PMID 2277385not yet assessed
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Paraplegia and arthrogryposis multiplex of the lower extremities after intrauterine exposure to ergotamine. ↗Journal of Medical Genetics · 1990 · PMID 2325101not yet assessed
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Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. ↗Journal of Medical Genetics · 1990 · PMID 2395168not yet assessed
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Rieger anomaly and uveal coloboma with associated anomalies:Third observation of a rare oculo-palato-osseous syndrome – the Abruzzo-Erikson syndrome ↗Ophthalmic Paediatrics and Genetics · 1990 · PMID 2348981not yet assessed
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Lethal short-rib with median cleft and without polydactyly: A fourth case ↗Pediatric Radiology · 1990 · PMID 2349022not yet assessed
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Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report ↗European Journal of Obstetrics & Gynecology and Reproductive Biology · 1990 · PMID 2365121not yet assessed
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Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? ↗PubMed · 1990 · PMID 2098045not yet assessed
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Etretinate embrytoxicity 7 months after discontinuation of treatment ↗American Journal of Medical Genetics · 1990 · PMID 2260582not yet assessed
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Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis ↗American Journal of Medical Genetics · 1989 · PMID 2929661not yet assessed
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Plasma amino acid concentrations in term infants fed human milk, a whey-predominant formula, or a whey hydrolysate formula ↗The Journal of Pediatrics · 1989 · PMID 2809909not yet assessed
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3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome) ↗Clinical Genetics · 1989 · PMID 2650935not yet assessed
-
BBBG syndrome or opitz syndrome: New family ↗American Journal of Medical Genetics · 1989 · PMID 2688419not yet assessed
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GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: A possible “new” recessively inherited MCA/MR syndrome ↗American Journal of Medical Genetics · 1989 · PMID 2705477not yet assessed
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Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery ↗Prenatal Diagnosis · 1989 · PMID 2726702not yet assessed
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Roberts-SC phocomelia syndrome with exencephaly. ↗PubMed · 1989 · PMID 2817778not yet assessed
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[Ellis-Van Creveld syndrome. Apropos of a case diagnosed in utero]. ↗PubMed · 1989 · PMID 2648524not yet assessed
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Coffin‐Lowry syndrome: a multicenter study ↗Clinical Genetics · 1988 · PMID 3069251not yet assessed
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CFC syndrome: a syndrome distinct from Noonan syndrome. ↗PubMed · 1988 · PMID 3265306not yet assessed
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[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. ↗PubMed · 1988 · PMID 3411306not yet assessed
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Noonan and Klinefelter syndromes in a child ↗American Journal of Medical Genetics · 1987 · PMID 3631144not yet assessed
-
Microcephalic osteodysplastic dwarfism (Type ll‐like) in siblings ↗Clinical Genetics · 1987 · PMID 3652495not yet assessed
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Chromosome 22 mosaic monosomy (46,XY/45,XY,-22). ↗PubMed · 1987 · PMID 3499857not yet assessed
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SOTOS SYNDROME AND FRAGILE X CHROMOSOMES ↗The Lancet · 1987 · PMID 2886781not yet assessed
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Nager acrofacial dysostosis with cleft lip. ↗PubMed · 1987 · PMID 3437268not yet assessed
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[The fragile X syndrome in 1987. Recent findings and review of the problem]. ↗PubMed · 1987 · PMID 3321324not yet assessed
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[A forest can hide a tree ... Rett syndrome: a second genetic cause of mental retardation in young girls?]. ↗PubMed · 1987 · PMID 3317697not yet assessed
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[Sexual ambiguity. Physiology and physiopathology of sexual differentiation]. ↗PubMed · 1986 · PMID 3776758not yet assessed
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[Typical hydantoin syndrome in a child of a non-epileptic mother]. ↗PubMed · 1986 · PMID 2947165not yet assessed
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[Preventive treatment of neurodysraphias]. ↗PubMed · 1986 · PMID 3760841not yet assessed
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[Genetic problems. Anticonvulsants and pregnancy. Clarification of the teratogenic risk]. ↗PubMed · 1986 · PMID 3797910not yet assessed
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IMMUNOCYTOCHEMICAL LOCALIZATION OF PROLACTIN-LIKE IMMUNOREACTIVITY IN RAT PANCREATIC ISLETS: ↗Endocrinology · 1983 · PMID 6343064not yet assessed
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Decreased secretin and glucagon responsiveness of adenylate cyclase in cardiac membranes from hypothyroid rats ↗FEBS Letters · 1981 · PMID 7297686not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
Merged across profiles sharing this ORCID where present. See every “Verloès A” paper on PubMed ↗