Mowat-Wilson syndrome in a Moroccan consanguineous family

Por Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz
Publicado em 2007

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Por 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 
Publicado em 2007

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Por Kott, Esther, Duquesnoy, Philippe, Copin, Bruno, Legendre, Marie, Dastot-Le Moal, Florence, Montantin, Guy, Jeanson, Ludovic, Tamalet, Aline, Papon, Jean-François, Siffroi, Jean-Pierre, Rives, Nathalie, Mitchell, Valérie, de Blic, Jacques, Coste, André, Clement, Annick, Escalier, Denise, Touré, Aminata, Escudier, Estelle, Amselem, Serge
Publicado em 2012

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Por Jeanson, Ludovic, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Duquesnoy, Philippe, Montantin, Guy, Cadranel, Jacques, Corvol, Harriet, Coste, André, Désir, Julie, Souayah, Anissa, Kott, Esther, Collot, Nathalie, Tissier, Sylvie, Louis, Bruno, Tamalet, Aline, de Blic, Jacques, Clement, Annick, Escudier, Estelle, Amselem, Serge, Legendre, Marie
Publicado no Am J Hum Genet (2015)

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Por El Khouri, Elma, Thomas, Lucie, Jeanson, Ludovic, Bequignon, Emilie, Vallette, Benoit, Duquesnoy, Philippe, Montantin, Guy, Copin, Bruno, Dastot-Le Moal, Florence, Blanchon, Sylvain, Papon, Jean François, Lorès, Patrick, Yuan, Li, Collot, Nathalie, Tissier, Sylvie, Faucon, Catherine, Gacon, Gérard, Patrat, Catherine, Wolf, Jean Philippe, Dulioust, Emmanuel, Crestani, Bruno, Escudier, Estelle, Coste, André, Legendre, Marie, Touré, Aminata, Amselem, Serge
Publicado no Am J Hum Genet (2016)

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Por Kott, Esther, Legendre, Marie, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Montantin, Guy, Duquesnoy, Philippe, Piterboth, William, Amram, Daniel, Bassinet, Laurence, Beucher, Julie, Beydon, Nicole, Deneuville, Eric, Houdouin, Véronique, Journel, Hubert, Just, Jocelyne, Nathan, Nadia, Tamalet, Aline, Collot, Nathalie, Jeanson, Ludovic, Le Gouez, Morgane, Vallette, Benoit, Vojtek, Anne-Marie, Epaud, Ralph, Coste, André, Clement, Annick, Housset, Bruno, Louis, Bruno, Escudier, Estelle, Amselem, Serge
Publicado em 2013

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Por Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme
Publicado em 2009