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

by Lacombe Didier, Mom Thierry, Francannet Christine, Duvillard Alain, Thauvin Christel, Dubin Jacques, Bonneau Dominique, Montaut-Verient Bettina, Vigneron Jacqueline, Calais Catherine, David Albert, Eliot Marie-Madeleine, Dollfus Hélène, Vincent Christophe, Delobel Bruno, Weil Dominique, El-Amraoui Aziz, Jonard Laurence, Feldmann Delphine, Zelenika Diana, Délépine Marc, Niasme-Grare Magali, Parodi Marine, Hardelin Jean-Pierre, Levilliers Jacqueline, Marlin Sandrine, Grati M'hamed, Bonnet Crystel, 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
Published 2011-05-01

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

by Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria ER, Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G, Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K, Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A, Faivre, Laurence, Vabres, Pierre
Published 2021

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

by McKay, James D., Truong, Therese, Gaborieau, Valerie, Chabrier, Amelie, Chuang, Shu-Chun, Byrnes, Graham, Zaridze, David, Shangina, Oxana, Szeszenia-Dabrowska, Neonila, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Bucur, Alexandru, Bencko, Vladimir, Holcatova, Ivana, Janout, Vladimir, Foretova, Lenka, Benhamou, Simone, Bouchardy, Christine, Ahrens, Wolfgang, Merletti, Franco, Richiardi, Lorenzo, Talamini, Renato, Barzan, Luigi, Kjaerheim, Kristina, Macfarlane, Gary J., Macfarlane, Tatiana V., Simonato, Lorenzo, Canova, Cristina, Agudo, Antonio, Lowry, Ray, Conway, David I., McKinney, Patricia A., Toner, Mary E., Znaor, Ariana, Curado, Maria Paula, Koifman, Sergio, Menezes, Ana, Boccia, Stefania, Cadoni, Gabriella, Arzani, Dario, Olshan, Andrew F., Weissler, Mark C., Funkhouser, William K., Luo, Jingchun, Trubicka, Joanna, Lener, Marcin, Oszutowska, Dorota, Schwartz, Stephen M., Fish, Sherianne, Doody, David R., Muscat, Joshua E., Lazarus, Philip, Gallagher, Carla J., Chang, Shen-Chih, Zhang, Zuo-Feng, Wei, Qingyi, Sturgis, Erich M., Wang, Li-E, Franceschi, Silvia, Herrero, Rolando, Kelsey, Karl T., McClean, Michael D., Marsit, Carmen J., Nelson, Heather H., Romkes, Marjorie, Buch, Shama, Nukui, Tomoko, Zhong, Shilong, Lacko, Martin, Manni, Johannes J., Peters, Wilbert H. M., Hung, Rayjean J., Goodman, Gary E., Liloglou, Triantafillos, Vineis, Paolo, Clavel-Chapelon, Francoise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Navarro, Carmen, Ardanaz, Eva, Khaw, Kay-Tee, Key, Timothy, Bueno-de-Mesquita, H. Bas, Peeters, Petra H. M., Trichopoulou, Antonia, Linseisen, Jakob, Boeing, Heiner, Overvad, Kim, Kumle, Merethe, Riboli, Elio, Metspalu, Andres, Zelenika, Diana, Boland, Anne, Delepine, Marc, Foglio, Mario, Lechner, Doris, Gut, Ivo G., Galan, Pilar, Heath, Simon, Hashibe, Mia, Hayes, Richard B., Lathrop, Mark, Brennan, Paul, Horwitz, Marshall S., Lagiou, Pagona, Trichopoulos, Dimitrios, Castellsagué, Xavier, Wünsch-Filho, Victor, Neto, José Eluf, Garrote, Leticia Fernández, Lubiński, Jan, Chen, Chu, McLaughin, John, Vatten, Lars Johan, Njølstad, Inger, Field, John K, González, Carlos A, Quirós, J. Ramón, Martínez, Carmen, Larrañaga, Nerea, Hallmans, Göran, Tjønneland, Anne, Välk, Kristjan, Vooder, Tõnu, Blanché, Hélène, Boffetta, Paolo
Published 2013