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2186 résultats correspondant à votre recherche

  • Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

    Source :

    medRxiv

    2021 mar 26

    Pmid / DOI:

  • CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

    Source :

    medRxiv

    2021 mar 19

    Pmid / DOI:

  • Cell-ID: gene signature extraction and cell identity recognition at individual cell levelation

    Source :

    BioRxiv

    2020 aoû 11

    Pmid / DOI:

  • Primary immunodeficiencies suggest redundancy within the human immune system

    Source :

    Science Immunology

    2016 déc 23

    Pmid / DOI:

  • Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

    Karine Siquier , Agnès Rötig, Stanislas Lyonnet, Giulia Barcia, Vincent Cantagrel, Olivier Hermine

    Source :

    Blood

    2021 mar 24

    Pmid / DOI:

    33763700

  • MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

    Lydie Burglen

    Source :

    Ann Neurol

    2021 avr 1

    Pmid / DOI:

    33443317

  • Mosaic Heterochrony in Neural Progenitors Sustains Accelerated Brain Growth and Neurogenesis in the Juvenile Killifish N. furzeri.

    Marion Coolen

    Source :

    Curr Biol

    2020 fév 24

    Pmid / DOI:

    32004451

  • Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

    Vincent Cantagrel, Stanislas Lyonnet

    Source :

    Am J Hum Genet

    2016 mar 3

    Pmid / DOI:

    26942287

  • Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Vincent Cantagrel, Jean-Laurent CASANOVA

    Source :

    Nat Genet

    2015 mai 1

    Pmid / DOI:

    25848753

  • AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

    Vincent Cantagrel

    Source :

    Cell

    2013 aoû 1

    Pmid / DOI:

    23911318

  • CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

    Vincent Cantagrel

    Source :

    Cell

    2014 avr 24

    Pmid / DOI:

    24766810

  • Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

    Céline Huber, Meriem Garfa-Traoré , Christine Bole, Patrick Nitschké, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

    Source :

    Am J Hum Genet

    2015 aoû 6

    Pmid / DOI:

    26166481