Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females von Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric

Volltext

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 von Bondurand, Nadege, Dastot-Le Moal, Florence, Stanchina, Laure, Collot, Nathalie, Baral, Viviane, Marlin, Sandrine, Attie-Bitach, Tania, Giurgea, Irina, Skopinski, Laurent, Reardon, William, Toutain, Annick, Sarda, Pierre, Echaieb, Anis, Lackmy-Port-Lis, Marilyn, Touraine, Renaud, Amiel, Jeanne, Goossens, Michel, Pingault, Veronique

Volltext

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features von Miguet, Marguerite, Faivre, Laurence, Amiel, Jeanne, Nizon, Mathilde, Touraine, Renaud, Prieur, Fabienne, Pasquier, Laurent, Lefebvre, Mathilde, Thevenon, Julien, Dubourg, Christèle, Julia, Sophie, Sarret, Catherine, Remerand, Ganaëlle, Francannet, Christine, Laffargue, Fanny, Boespflug-Tanguy, Odile, David, Albert, Isidor, Bertrand, Vigneron, Jacqueline, Leheup, Bruno, Lambert, Laetitia, Philippe, Christophe, Béri-Dexheimer, Mylène, Cuisset, Jean-Marie, Andrieux, Joris, Plessis, Ghislaine, Toutain, Annick, Guibaud, Laurent, Cormier-Daire, Valérie, Rio, Marlene, Bonnefont, Jean-Paul, Echenne, Bernard, Journel, Hubert, Burglen, Lydie, Chantot-Bastaraud, Sandrine, Bienvenu, Thierry, Baumann, Clarisse, Perrin, Laurence, Drunat, Séverine, Jouk, Pierre-Simon, Dieterich, Klaus, Devillard, Françoise, Lacombe, Didier, Philip, Nicole, Sigaudy, Sabine, Moncla, Anne, Missirian, Chantal, Badens, Catherine, Perreton, Nathalie, Thauvin-Robinet, Christel, AChro-Puce, Réseau, Pedespan, Jean-Michel, Rooryck, Caroline, Goizet, Cyril, Vincent-Delorme, Catherine, Duban-Bedu, Bénédicte, Bahi-Buisson, Nadia, Afenjar, Alexandra, Maincent, Kim, Héron, Delphine, Alessandri, Jean-Luc, Martin-Coignard, Dominique, Lesca, Gaëtan, Rossi, Massimiliano, Raynaud, Martine, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Coutton, Charles, Satre, Véronique, Caignec, Cédric Le, Malan, Valérie, Romana, Serge, Keren, Boris, Tabet, Anne-Claude, Kremer, Valérie, Scheidecker, Sophie, Vigouroux, Adeline, Lackmy-Port-Lis, Marilyn, Sanlaville, Damien, Till, Marianne, Carneiro, Maryline, Gilbert-Dussardier, Brigitte, Willems, Marjolaine, Van Esch, Hilde, Portes, Vincent Des, El Chehadeh, Salima

Volltext

Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation von Collod-Béroud, Gwenaëlle, Lackmy-Port-Lys, Marilyn, Jondeau, Guillaume, Mathieu, Michèle, Maingourd, Yves, Coulon, Monique, Guillotel, Michel, Junien, Claudine, Boileau, Catherine

Volltext