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2186 résultats correspondant à votre recherche

  • Cilia in hereditary cerebral anomalies.

    Sophie Thomas, Lucile Boutaud, Alexandre Benmerah

    Source :

    Biol Cell

    2019 sep 1

    Pmid / DOI:

    31177551

  • Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

    Tania Attié-Bitach, Sophie Thomas

    Source :

    Hum Mol Genet

    2019 mar 15

    Pmid / DOI:

    30445565

  • TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

    Sophie Thomas, Sophie Saunier, Tania Attié-Bitach

    Source :

    J Cell Biol

    2015 avr 13

    Pmid / DOI:

    25869670

  • Transmettre

    Programmes doctoraux et post-doctoraux

  • A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

    Sophie Thomas, Jeanne Amiel, Jean-Laurent CASANOVA , Nathalie Boddaert, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Sophie Saunier, Tania Attié-Bitach

    Source :

    Hum Mutat

    2014 jan 1

    Pmid / DOI:

    24166846

  • Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

    Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

    Source :

    Hum Mol Genet

    2018 aoû 1

    Pmid / DOI:

    29771326

  • TCTN3 mutations cause Mohr-Majewski syndrome.

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

    Source :

    Am J Hum Genet

    2012 aoû 10

    Pmid / DOI:

    22883145

  • 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 avr 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 juin 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 juil 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