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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Nina Bögershausen
,
Vincent Gatinois
,
Vera Riehmer
,
Hulya Kayserili
,
Jutta Becker
et al.
Journal articles
hal-01847014v1
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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Frederic Brioude
,
Irène Netchine
,
Françoise Praz
,
Marilyne Le Jule
,
Claire Calmel
et al.
Journal articles
istex
hal-01195734v1
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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
Xiao-Fei Kong
,
Lisa Worley
,
Darawan Rinchai
,
Vincent Bondet
,
Puthen Veettil Jithesh
et al.
Journal articles
pasteur-02900826v1
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Phenotypic similarity for rare disease: ciliopathy diagnoses and subtyping
Xiaoyi Chen
,
Nicolas Garcelon
,
Antoine Neuraz
,
Katy Billot
,
Marc Lelarge
et al.
Journal of Biomedical Informatics, 2019
Journal articles
hal-02893160v1
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New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation
Caroline Schluth
,
Roselyne Gesny
,
Guntram Borck
,
Richard Redon
,
Véronique Abadie
et al.
Journal articles
istex
hal-02087870v1
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Pathways systematically associated to Hirschsprung's disease.
Raquel Fernández
,
Marta Bleda
,
Berta Luzón-Toro
,
Luz García-Alonso
,
Stacey Arnold
et al.
Journal articles
inserm-00921630v1
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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
et al.
Journal articles
inserm-03712902v1
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Anne Guimier
,
Christopher T. Gordon
,
François Godard
,
Gianina Ravenscroft
,
Myriam Oufadem
et al.
Journal articles
hal-01831600v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study
C Binquet
,
Catherine Lejeune
,
Laurence Faivre
,
Marion Bouctot
,
Marie-Laure Asensio
et al.
Journal articles
hal-03610031v1
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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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Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications
Cécile Louveau
,
Pierre Ellul
,
Anton Iftimovici
,
Julien Dubreucq
,
Charles Laidi
et al.
Journal articles
inserm-03967430v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol
Catherine Lejeune
,
Charley Robert-Viard
,
Nicolas Meunier-Beillard
,
Myriam Alice Borel
,
Léna Gourvès
et al.
Journal articles
hal-03678712v1
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Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Julie Salomon
,
Olivier Goulet
,
Danielle Canioni
,
Nicole Brousse
,
Julie Lemale
et al.
Journal articles
hal-00880136v1
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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Julia Lauer Zillhardt
,
Karine Poirier
,
Loic Broix
,
Nicolas Lebrun
,
Adrienne Elmorjani
et al.
Journal articles
hal-01313739v1
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ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.
Christelle Golzio
,
Emmanuelle Havis
,
Philippe Daubas
,
Gregory Nuel
,
Candice Babarit
et al.
Journal articles
hal-00686361v1
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TP63 gene mutation in ADULT syndrome
Jeanne Amiel
,
Gaëlle Bougeard
,
Christine Francannet
,
Valérie Raclin
,
Arnold Munnich
et al.
Journal articles
hal-03106954v1
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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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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Jean Chemin
,
Karine Siquier-Pernet
,
Michael Nicouleau
,
Giulia Barcia
,
Ali Ahmad
et al.
Journal articles
hal-02017665v1
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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
Laurence Colleaux
,
Marlène Rio
,
Solange Heuertz
,
Séverine Moindrault
,
Catherine Turleau
et al.
Journal articles
hal-02090216v1
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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
Loïc de Pontual
,
Virginie Népote
,
Tania Attié-Bitach
,
Hassan Al Halabiah
,
Ha Trang
et al.
Journal articles
hal-02342800v1
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How has the future investment program stimulated research and innovation in health?
Régis Bordet
,
Jean-Christophe Dantonel
,
Eric Vacaresse
,
Claire Le Jeunne
,
Nora Benhabiles
et al.
Journal articles
hal-03738202v1
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Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies
Hugo Garcia
,
Alice Serafin
,
Flora Silbermann
,
Esther Porée
,
Amandine Viau
et al.
Journal articles
hal-03930843v1
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi
,
Fabien Guimiot
,
Eva Pipiras
,
Joris Andrieux
,
Clarisse Baumann
et al.
Journal articles
hal-01116591v1
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High-throughput Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy
Sophie Thomas
,
Ferechte Encha-Razavi
,
Louise Devisme
,
Heather C Etchevers
,
Bettina Bessieres-Grattagliano
et al.
Journal articles
hal-00574003v1
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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
François Cartault
,
Patrick Munier
,
Edgar Benko
,
Isabelle Desguerre
,
Sylvain Hanein
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (13), pp.4980-4985. ⟨10.1073/pnas.1111596109⟩
Journal articles
hal-01285444v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Christopher Gordon
,
Shifeng Xue
,
Gökhan Yigit
,
Hicham Filali
,
Kelan Chen
et al.
Journal articles
hal-01617529v1
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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
Christelle Golzio
,
Jelena Martinovic-Bouriel
,
Sophie Thomas
,
Soumaya Mougou-Zrelli
,
Bettina Grattagliano-Bessieres
et al.
Journal articles
hal-00172593v1
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Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90 % of hypohidrotic/anhidrotic ectodermal dysplasia cases
Céline Cluzeau
,
Smail Hadj-Rabia
,
Marguerite Jambou
,
Sourour Mansour
,
Philippe Guigue
et al.
Journal articles
istex
hal-00599475v1
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Mara Cavallin
,
Maria A Rujano
,
Nathalie Bednarek
,
Daniel Medina-Cano
,
Antoinette Bernabe Gelot
et al.
Journal articles
hal-02620552v1
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly a.F. Stessman
,
Marjolein h. Willemsen
,
Michael Fenckova
,
Osnat Penn
,
Alexander Hoischen
et al.
Journal articles
hal-01405534v1
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