p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

Autor René, Céline, Paulet, Damien, Girodon, Emmanuelle, Costa, Catherine, Lalau, Guy, Leclerc, Julie, Cabet-Bey, Faïza, Bienvenu, Thierry, Blayau, Martine, Iron, Albert, Mittre, Hervé, Feldmann, Delphine, Guittard, Caroline, Claustres, Mireille, Georges, Marie des
Vydáno 2011

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

Autor Pierron, Denis, Rocher, Christophe, Amati-Bonneau, Patricia, Reynier, Pascal, Martin-Négrier, Marie-Laure, Allouche, Stéphane, Batandier, Cécile, de Camaret, Benedicte Mousson, Godinot, Catherine, Rotig, Agnes, Feldmann, Delphine, Bellanne-Chantelot, Christine, Arveiler, Benoit, Pennarun, Erwann, Rossignol, Rodrigue, Crouzet, Marc, Murail, Pascal, Thoraval, Didier, Letellier, Thierry
Vydáno 2008

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children

Autor Flamein, Florence, Riffault, Laure, Muselet-Charlier, Céline, Pernelle, Julie, Feldmann, Delphine, Jonard, Laurence, Durand-Schneider, Anne-Marie, Coulomb, Aurore, Maurice, Michèle, Nogee, Lawrence M., Inagaki, Nobuya, Amselem, Serge, Dubus, Jean Christophe, Rigourd, Virginie, Brémont, François, Marguet, Christophe, Brouard, Jacques, de Blic, Jacques, Clement, Annick, Epaud, Ralph, Guillot, Loïc
Vydáno 2012

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Autor Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
Vydáno 2011

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Autor Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
Vydáno 2009

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Autor Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W. R. J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J. H., Van Camp, Guy
Vydáno 2005