Ciliome resequencing: A lifeline for molecular diagnosis in LCA

por Perrault, I, Hanein, S, Nicouleau, M, Saunier, S, Bole, C, Nitschké, P, Xerri, O, Delphin, N, Munnich, A, Kaplan, J, Rozet, JM
Publicado 2015

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

por Perrault, I, Saunier, S, Hanein, S, Filhol, E, Bizet, A, Collins, F, Salih, M, Silva, E, Baudouin, V, Oud, M, Shannon, N, Le Merrer, M, Pietrement, C, Beales, P, Arts, H, Munnich, A, Kaplan, J, Antignac, C, Cormier Daire, V, Rozet, JM
Publicado 2012

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy

por Perrault, I, Halbritter, J, Porath, J, Gerard, X, Braun, D, Gee, H, Fathy, H, Saunier, S, Cormier-Daire, V, Thomas, S, Attié-Bitach, T, Boddaert, N, Taschner, M, Schueler, M, Lorentzen, E, Lifton, R, Otto, E, Bastin, P, Kaplan, J, Hildebrandt, F, Rozet, JM
Publicado 2015