Mowat-Wilson syndrome in a Moroccan consanguineous family

per Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz
Publicat 2007

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

per 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 
Publicat 2007

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

per 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
Publicat 2012

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

per 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
Publicat a Am J Hum Genet (2015)

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

per 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
Publicat a Am J Hum Genet (2016)

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

per 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
Publicat 2013

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

per 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
Publicat 2009