Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
,
et al.
Journal articles
hal-02347889v1
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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
Marlène Rio
,
Valérie Malan
,
Sarah Boissel
,
Annick Toutain
,
Ghislaine Royer
,
et al.
Journal articles
hal-02044698v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Nadège Bondurand
,
Florence Dastot-Le Moal
,
Laure Stanchina
,
Nathalie Collot
,
Viviane Baral
,
et al.
Journal articles
inserm-00196715v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Aurore Curie
,
Tatjana Nazir
,
Amandine Brun
,
Yves Paulignan
,
Anne Reboul
,
et al.
Journal articles
hal-01020483v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry
,
Geeske M van Woerden
,
Thomas Besnard
,
Martina Proietti Onori
,
Xénia Latypova
,
et al.
Journal articles
inserm-01813739v1
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Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Sylvie Jaillard
,
Séverine Drunat
,
Claude Bendavid
,
Azzedine Aboura
,
Amandine Etcheverry
,
et al.
Journal articles
istex
inserm-00434932v1
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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg
,
Damien Sanlaville
,
Martine Doco-Fenzy
,
Cédric Le Caignec
,
Chantal Missirian
,
et al.
Journal articles
inserm-00541962v1
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
Laïla El Khattabi
,
Sylvie Jaillard
,
Joris Andrieux
,
Laurent Pasquier
,
Laurence Perrin
,
et al.
Journal articles
istex
hal-01165441v1
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lisa Lenaerts
,
Sara Reynhout
,
Iris Verbinnen
,
Frederic Laumonnier
,
Annick Toutain
,
et al.
Journal articles
inserm-03273405v1
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Médéric Jeanne
,
Hélène Demory
,
Aubin Moutal
,
Marie-Laure Vuillaume
,
Sophie Blesson
,
et al.
Journal articles
hal-03221134v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry
,
Thomas Besnard
,
Frédéric Ebstein
,
Tahir N. Khan
,
Tomasz Gambin
,
et al.
Journal articles
hal-01478814v1
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Quality of life and mental health of adolescents and adults with Silver-Russell syndrome
Mélissa Burgevin
,
Agnès Lacroix
,
Karine Bourdet
,
Régis Coutant
,
Bruno Donadille
,
et al.
Journal articles
hal-03629998v1
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Solveig Heide
,
Boris Keren
,
Thierry Billette de Villemeur
,
Sandra Chantot-Bastaraud
,
Christel Depienne
,
et al.
Journal articles
hal-01560200v1
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Gaelle Thierry
,
Claire Bénéteau
,
Olivier Pichon
,
Elisabeth Flori
,
Bertrand Isidor
,
et al.
Journal articles
inserm-00706725v1
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New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
Audric Cologne
,
Clara Benoit-Pilven
,
Alicia Besson
,
Audrey Putoux
,
Amandine Campan-Fournier
,
et al.
Journal articles
hal-02305628v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
,
et al.
Journal articles
hal-01738521v1
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Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg
,
Florence Riccardi
,
Aude Tessier
,
Rolph Pfundt
,
Tiffany Busa
,
et al.
Journal articles
istex
hal-01469066v1
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
Celine Bordet
,
Sandrine Brice
,
Carole Maupain
,
Estelle Gandjbakhch
,
Bertrand Isidor
,
et al.
Journal articles
hal-02882035v1
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Suzanna Frints
,
Aysegul Ozanturk
,
Germán Rodriguez Criado
,
Ute Grasshoff
,
Bas de Hoon
,
et al.
Journal articles
hal-03677837v1
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A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
Isabelle Pénisson-Besnier
,
Nicole Monnier
,
Annick Toutain
,
Frédéric Dubas
,
Nigel G. Laing
Journal articles
inserm-00381952v1
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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
,
et al.
Journal articles
hal-00916763v1
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X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium
Vincent Des Portes
,
Cherif Beldjord
,
Jamel Chelly
,
Ben Hamel
,
Hannie Kremer
,
et al.
Journal articles
istex
hal-04056950v1
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Julien Thévenon
,
Mathieu Milh
,
François Feillet
,
Judith St-Onge
,
Yannis Duffourd
,
et al.
Journal articles
hal-01668025v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
Bertrand Isidor
,
Sébastien Küry
,
Jill A. Rosenfeld
,
Thomas Besnard
,
Sébastien Schmitt
,
et al.
Journal articles
hal-01259225v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Amélie Cordovado
,
Martina Schaettin
,
Mederic Jeanne
,
Veranika Panasenkava
,
Anne‐sophie Denommé‐pichon
,
et al.
Journal articles
hal-03719616v1
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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature
Marie-Laure Vuillaume
,
Marie-Pierre Moizard
,
Sylvie Rossignol
,
Edouard Cottereau
,
Sandrine Vonwill
,
et al.
Journal articles
hal-02393015v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Natacha Lehman
,
Anne-Claire Mazery
,
Antoine Visier
,
Clarisse Baumann
,
Dominique Lachesnais
,
et al.
Journal articles
hal-01560204v1
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Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
,
Claire Duflos
,
Sandrine Akouete
,
Véra Georgescu
,
et al.
Journal articles
hal-03388687v1
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Judith Halewa
,
Sylviane Marouillat
,
Manon Dixneuf
,
Rose‐anne Thépault
,
Dévina C Ung
,
et al.
Journal articles
inserm-03273379v1
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The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.
Marie Legendre
,
Xavier Darde
,
Marion Ferreira
,
Sandra Chantot-Bastaraud
,
Marion Campana
,
et al.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders , 2022, 39 (2), pp.e2022019.
⟨10.36141/svdld.v39i2.12730⟩
Journal articles
inserm-03837029v1
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