Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations

por Tilley, F. C., Arrondel, C., Chhuon, C., Boisson, M., Cagnard, N., Parisot, M., Menara, G., Lefort, N., Guerrera, I. C., Bole-Feysot, C., Benmerah, A., Antignac, C., Mollet, G.
Publicado 2021

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

por Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S
Publicado 2015

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

por Becker-Heck, A, Bizet, A, Ryan, R, Krug, P, Filhol, E, Linghu, B, Oakeley, E, Serluca, F, Legendre, F, Dörner, N, Lasbennes, MC, Duca, J, Yang, F, Damask, A, Klickstein, L, Labow, M, Schebesta, M, Bouwmeester, T, Valette, H, Pinson, L, Goubaux, B, Dubot, P, Salomon, R, Antignac, C, Gubler, M, Jeanpierre, C, Chibout, S, Bole-Feysot, C, Nitschké, P, Benmerah, A, Szustakowski, JD, Sailer, AW, Saunier, S, Saint-Mezard, P
Publicado 2015