Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

Por Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, Eléonore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, Céline
Publicado no Asian J Androl (2017)

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Por Pebrel-Richard, Céline, Debost-Legrand, Anne, Eymard-Pierre, Eléonore, Greze, Victoria, Kemeny, Stéphan, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Vago, Philippe, Goumy, Carole, Francannet, Christine
Publicado em 2014

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Por Kasher, Paul R., Schertz, Katherine E., Thomas, Megan, Jackson, Adam, Annunziata, Silvia, Ballesta-Martinez, María J., Campeau, Philippe M., Clayton, Peter E., Eaton, Jennifer L., Granata, Tiziana, Guillén-Navarro, Encarna, Hernando, Cristina, Laverriere, Caroline E., Liedén, Agne, Villa-Marcos, Olaya, McEntagart, Meriel, Nordgren, Ann, Pantaleoni, Chiara, Pebrel-Richard, Céline, Sarret, Catherine, Sciacca, Francesca L., Wright, Ronnie, Kerr, Bronwyn, Glasgow, Eric, Banka, Siddharth
Publicado no Am J Hum Genet (2016)

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Por Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine
Publicado no Eur J Hum Genet (2016)

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Por Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie
Publicado no Am J Hum Genet (2016)