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2187 résultats correspondant à votre recherche

  • Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

    Lydie Burglen, Valentina Marchesin, Marlène Rio, Nadia Bahi-Buisson, Christine Bole, Arnold Munnich, Matias Simons, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet

    Source :

    Am J Hum Genet

    2016 mai 5

    Pmid / DOI:

    27108797

  • Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

    Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

    Source :

    Dev Cell

    2023 nov 6

    Pmid / DOI:

    37852253

  • Institut Imagine

    Post-doctoral position in Asymmetric heart morphogenesis

  • NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.

    Antonio Rausell

    Source :

    Genome Biol.

    2019 mar 21

    Pmid / DOI:

    30744685

  • Submicroscopic deletions at 13q32.1 cause congenital microcoria.

    Arnold Munnich, Jean-Michel Rozet

    Source :

    Am J Hum Genet

    2015 avr 2

    Pmid / DOI:

    25772937

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

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

    Source :

    Am J Hum Genet

    2014 juin 5

    Pmid / DOI:

    24814191

  • AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

    Arnold Munnich, Jean-Michel Rozet

    Source :

    Mol Ther Nucleic Acids

    2012 juin 26

    Pmid / DOI:

    23344081

  • ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

    Christine Bole, Patrick Nitschké, Arnold Munnich, Stanislas Lyonnet, Jean-Michel Rozet

    Source :

    Am J Hum Genet

    2013 fév 7

    Pmid / DOI:

    23312594

  • Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

    Jean-Michel Rozet

    Source :

    Brain

    2012 oct 1

    Pmid / DOI:

    23065789

  • Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

    Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

    Source :

    Nat Genet

    2012 sep 1

    Pmid / DOI:

    22842229

  • Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

    Sophie Saunier, Patrick Nitschké, Arnold Munnich, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

    Source :

    Am J Hum Genet

    2012 mai 4

    Pmid / DOI:

    22503633

  • TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

    Marlène Rio, Nathalie Boddaert, Agnès Rötig, Arnold Munnich, Jean-Michel Rozet

    Source :

    Am J Hum Genet

    2009 avr 1

    Pmid / DOI:

    19327736