Found: 4

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  • 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 776, doi. 10.1038/ejhg.2013.243
    By:
    • Piton, Amélie;
    • Poquet, Hélène;
    • Redin, Claire;
    • Masurel, Alice;
    • Lauer, Julia;
    • Muller, Jean;
    • Thevenon, Julien;
    • Herenger, Yvan;
    • Chancenotte, Sophie;
    • Bonnet, Marlène;
    • Pinoit, Jean-Michel;
    • Huet, Frédéric;
    • Thauvin-Robinet, Christel;
    • Jaeger, Anne-Sophie;
    • Le Gras, Stéphanie;
    • Jost, Bernard;
    • Gérard, Bénédicte;
    • Peoc'h, Katell;
    • Launay, Jean-Marie;
    • Faivre, Laurence
    Publication type:
    Article

  • 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
    By:
    • Thevenon, Julien;
    • Callier, Patrick;
    • Andrieux, Joris;
    • Delobel, Bruno;
    • David, Albert;
    • Sukno, Sylvie;
    • Minot, Delphine;
    • Mosca Anne, Laure;
    • Marle, Nathalie;
    • Sanlaville, Damien;
    • Bonnet, Marlène;
    • Masurel-Paulet, Alice;
    • Levy, Fabienne;
    • Gaunt, Lorraine;
    • Farrell, Sandra;
    • Le Caignec, Cédric;
    • Toutain, Annick;
    • Carmignac, Virginie;
    • Mugneret, Francine;
    • Clayton-Smith, Jill
    Publication type:
    Article

  • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765
    By:
    • Masurel‐Paulet, Alice;
    • Piton, Amélie;
    • Chancenotte, Sophie;
    • Redin, Claire;
    • Thauvin‐Robinet, Christel;
    • Henrenger, Yvan;
    • Minot, Delphine;
    • Creppy, Audrey;
    • Ruffier‐Bourdet, Marie;
    • Thevenon, Julien;
    • Kuentz, Paul;
    • Lehalle, Daphné;
    • Curie, Aurore;
    • Blanchard, Gaelle;
    • Ghosn, Ezzat;
    • Bonnet, Marlene;
    • Archimbaud‐Devilliers, Mélanie;
    • Huet, Frédéric;
    • Perret, Odile;
    • Philip, Nicole
    Publication type:
    Article

  • Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348
    By:
    • Masurel‐Paulet, Alice;
    • Kalscheuer, Vera M.;
    • Lebrun, Nicolas;
    • Hu, Hao;
    • Levy, Fabienne;
    • Thauvin‐Robinet, Christel;
    • Darmency‐Stamboul, Véronique;
    • El Chehadeh, Salima;
    • Thevenon, Julien;
    • Chancenotte, Sophie;
    • Ruffier‐Bourdet, Marie;
    • Bonnet, Marlène;
    • Pinoit, Jean‐Michel;
    • Huet, Frédéric;
    • Desportes, Vincent;
    • Chelly, Jamel;
    • Faivre, Laurence
    Publication type:
    Article