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2187 résultats correspondant à votre recherche

  • Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

    Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet, Isabelle Perrault

    Source :

    Am J Hum Genet

    2020 juin 4

    Pmid / DOI:

    32470375

  • Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

    Sandrine Marlin, Jean-Michel Rozet, Isabelle Perrault

    Source :

    Adv Exp Med Biol

    2019 jan 1

    Pmid / DOI:

    31884617

  • Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

    Isabelle Perrault, Marlène Rio, Jean-Michel Rozet

    Source :

    Adv Exp Med Biol

    2019 jan 1

    Pmid / DOI:

    31884610

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

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

    Source :

    Hum Mol Genet

    2018 aoû 1

    Pmid / DOI:

    29771326

  • Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

    Isabelle Perrault, Sophie Saunier, Jean-Michel Rozet

    Source :

    Hum Mutat

    2018 juil 1

    Pmid / DOI:

    29688594

  • Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

    Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin, Isabelle Perrault

    Source :

    Am J Hum Genet

    2017 déc 7

    Pmid / DOI:

    29198720

  • Equipe Edor Kabashi et Rima Nabout

    Soigner

      Neuro-développement

    Le point sur la recherche sur les épilepsies

  • Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

    Jean-Michel Rozet, Isabelle Perrault

    Source :

    Invest Ophthalmol Vis Sci

    2016 mar 1

    Pmid / DOI:

    26968735

  • A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

    Isabelle Perrault

    Source :

    Nat Commun

    2016 nov 24

    Pmid / DOI:

    27882921

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

    Isabelle Perrault, 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

  • Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

    Isabelle Perrault, Arnold Munnich, Jean-Michel Rozet

    Source :

    Mol Ther Nucleic Acids

    2015 sep 1

    Pmid / DOI:

    26325627

  • Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

    Isabelle Perrault, Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, Arnold Munnich, Jean-Michel Rozet

    Source :

    Am J Hum Genet

    2014 juin 5

    Pmid / DOI:

    24814191