Search Results - "LACOSTE, Tiphanie"

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome by Nivet, Hubert, Vierkotten, Jeanette, Schneider-Maunoury, Sylvie, Champion, Gérard, Johnson, Colin A, Golzio, Christelle, Vesque, Christine, Niaudet, Patrick, Berthélémé, Jean Pierre, Lacoste, Tiphanie, Anselme, Isabelle, Baala, Lekbir, Gubler, Marie Claire, Antignac, Corinne, Gerhardt, Christoph, Martinovic, Jéléna, Attié-Bitach, Tania, Saunier, Sophie, Rüther, Ulrich, Encha-Razavi, Féréchté, Tory, Kàlmàn, Besse, Laurianne, Boddaert, Nathalie, Salomon, Rémi, Moutkine, Imane, Silbermann, Flora, Vekemans, Michel, Ozilou, Catherine, Laclef, Christine, Macher, Marie Alice, Gonzales, Marie, Delous, Marion, Hellman, Nathan E, Rattenberry, Eleanor, Hildebrandt, Friedhelm, McDonald, Fiona, Wolf, Matthias T F

“…Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive…”
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High NPHP1 and NPHP6 mutation rate in patients with joubert syndrome and nephronophthisis : Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations by TORY, Kalman, LACOSTE, Tiphanie, ANTIGNAC, Corinne, SALOMON, Rémi, SAUNIER, Sophie, BURGLEN, Lydie, MORINIERE, Vincent, BODDAERT, Nathalie, MACHER, Marie-Alice, LLANAS, Brigitte, NIVET, Hubert, BENSMAN, Albert, NIAUDET, Patrick

“…Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal…”
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