Persisting Reversed Clock Syndrome

por Orssaud, Christophe, Halimi, Philippe, Jeunne, Claire Le, Dufier, Jean Louis
Publicado 2005

Benefit of Bi-Ocular Visual Stimulation for Postural Control in Children with Strabismus

por Gaertner, Chrystal, Creux, Charlotte, Espinasse-Berrod, Marie-Andrée, Orssaud, Christophe, Dufier, Jean-Louis, Kapoula, Zoï
Publicado 2013

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

por de la Houssaye, Guillaume, Bieche, Ivan, Roche, Olivier, Vieira, Véronique, Laurendeau, Ingrid, Arbogast, Laurence, Zeghidi, Hatem, Rapp, Philippe, Halimi, Philippe, Vidaud, Michel, Dufier, Jean-Louis, Menasche, Maurice, Abitbol, Marc
Publicado 2006

Eight previously unidentified mutations found in the OA1 ocular albinism gene

por Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Publicado 2006

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

por Dansault, Anouk, David, Gabriel, Schwartz, Claire, Jaliffa, Carolina, Vieira, Véronique, de la Houssaye, Guillaume, Bigot, Karine, Catin, Françise, Tattu, Laurent, Chopin, Catherine, Halimi, Philippe, Roche, Olivier, Van Regemorter, Nicole, Munier, Francis, Schorderet, Daniel, Dufier, Jean-Louis, Marsac, Cécile, Ricquier, Daniel, Menasche, Maurice, Penfornis, Alfred, Abitbol, Marc
Publicado 2007

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

por Chassaing, Nicolas, Davis, Erica E., McKnight, Kelly L., Niederriter, Adrienne R., Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C., Faguer, Stanislas, Calvas, Patrick
Publicado 2016