Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

por Cormier-Daire, V, Huber, C, Baujat, J, Caumes, R, Kayirangwa, H, Le Merrer, M, Le Quan Sang, KH, Munnich, A
Publicado 2012

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

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

por Mouillé, M., Rio, M., Breton, S., Piketty, M. L., Afenjar, A., Amiel, J., Capri, Y., Goldenberg, A., Francannet, C., Michot, C., Mignot, C., Perrin, L., Quelin, C., Van Gils, J., Barcia, G., Pingault, V., Maruani, G., Koumakis, E., Cormier-Daire, V.
Publicado 2022

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

por Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G
Publicado 2011