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1788 results found for your search

  • A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

    Lucile Boutaud, Sophie Thomas, Tania Attié-Bitach

    Source :

    Birth Defects Res

    2018 Apr 17

    Pmid / DOI:

    29356416

  • KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

    Sophie Thomas, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire, Stanislas Lyonnet, Tania Attié-Bitach

    Source :

    Nat Genet

    2011 Jun 1

    Pmid / DOI:

    21552264

  • Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

    Lucile Boutaud, Sophie Thomas, Tania Attié-Bitach

    Source :

    Am J Med Genet A

    2018 Jul 1

    Pmid / DOI:

    29704304

  • Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

    Camille Maillard, Sophie Thomas, Nadia Bahi-Buisson

    Source :

    J Neuropathol Exp Neurol

    2017 Mar 1

    Pmid / DOI:

    28395088

  • Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

    Camille Maillard, Despina Moshous, Marlène Rio, Nathalie Boddaert, Sophie Thomas, Nadia Bahi-Buisson

    Source :

    Am J Med Genet A

    2017 Mar 1

    Pmid / DOI:

    28168853

  • Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

    Sophie Thomas, Vincent Cantagrel, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach

    Source :

    Eur J Hum Genet

    2015 May 1

    Pmid / DOI:

    25138100

  • IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

    Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

    Source :

    J Med Genet

    2015 Oct 1

    Pmid / DOI:

    26275418

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  • OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

    Source :

    Clin Genet

    2013 Jul 1

    Pmid / DOI:

    23036093

  • OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

    Sophie Thomas, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach, Lydie Burglen

    Source :

    Clin Genet

    2013 Jul 1

    Pmid / DOI:

    23036093

  • Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

    Sophie Thomas, Tania Attié-Bitach

    Source :

    Eur J Hum Genet

    2013 Oct 1

    Pmid / DOI:

    23386033

  • Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

    Sophie Thomas, Tania Attié-Bitach

    Source :

    Science

    2012 Feb 24

    Pmid / DOI:

    22282472