Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Por Masliah-Planchon, Julien, Dupont, Céline, Vartzelis, George, Trimouille, Aurélien, Eymard-Pierre, Eléonore, Gay-Bellile, Mathilde, Renaldo, Florence, Dorboz, Imen, Pagan, Cécile, Quentin, Samuel, Elmaleh, Monique, Kotsogianni, Christina, Konstantelou, Elissavet, Drunat, Séverine, Tabet, Anne-Claude, Boespflug-Tanguy, Odile
Publicado no BMC Med Genet (2015)

Identification of Pathway-Biased and Deleterious Melatonin Receptor Mutants in Autism Spectrum Disorders and in the General Population

Por Chaste, Pauline, Clement, Nathalie, Mercati, Oriane, Guillaume, Jean-Luc, Delorme, Richard, Botros, Hany Goubran, Pagan, Cécile, Périvier, Samuel, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Ståhlberg, Ola, Gillberg, Carina, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Mouren-Simeoni, Marie Christine, Leboyer, Marion, Gillberg, Christopher, Jockers, Ralf, Bourgeron, Thomas
Publicado em 2010

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Por Pagan, Cecile, Botros, Hany Goubran, Poirier, Karine, Dumaine, Anne, Jamain, Stéphane, Moreno, Sarah, de Brouwer, Arjan, Van Esch, Hilde, Delorme, Richard, Launay, Jean-Marie, Tzschach, Andreas, Kalscheuer, Vera, Lacombe, Didier, Briault, Sylvain, Laumonnier, Frédéric, Raynaud, Martine, van Bon, Bregje W, Willemsen, Marjolein H, Leboyer, Marion, Chelly, Jamel, Bourgeron, Thomas
Publicado em 2011