X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Por Bonneau, D, Rozet, J M, Bulteau, C, Berthier, M, Mettey, R, Gil, R, Munnich, A, Le Merrer, M
Publicado em 1993

Evidence for a fourth locus in Usher syndrome type I.

Por Gerber, S, Larget-Piet, D, Rozet, J M, Bonneau, D, Mathieu, M, Der Kaloustian, V, Munnich, A, Kaplan, J
Publicado em 1996

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Por Cabot, A, Rozet, J M, Gerber, S, Perrault, I, Ducroq, D, Smahi, A, Souied, E, Munnich, A, Kaplan, J
Publicado em 1999

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

Por Perrault, I, Rozet, J M, Gerber, S, Kelsell, R E, Souied, E, Cabot, A, Hunt, D M, Munnich, A, Kaplan, J
Publicado em 1998

No evidence of genetic heterogeneity in dominant optic atrophy.

Por Bonneau, D, Souied, E, Gerber, S, Rozet, J M, D'Haens, E, Journel, H, Plessis, G, Weissenbach, J, Munnich, A, Kaplan, J
Publicado em 1995

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

Por Gerber, S, Rozet, J M, Bonneau, D, Souied, E, Camuzat, A, Dufier, J L, Amalric, P, Weissenbach, J, Munnich, A, Kaplan, J
Publicado em 1995

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Por Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
Publicado em 1992

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

Por Perrault, I, Rozet, J M, Ghazi, I, Leowski, C, Bonnemaison, M, Gerber, S, Ducroq, D, Cabot, A, Souied, E, Dufier, J L, Munnich, A, Kaplan, J
Publicado em 1999

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Por Souied, E, Segues, B, Ghazi, I, Rozet, J M, Chatelin, S, Gerber, S, Perrault, I, Michel-Awad, A, Briard, M L, Plessis, G, Dufier, J L, Munnich, A, Kaplan, J
Publicado em 1997

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

Por Saunier, S, Bizet, AA, Silbermann, F, Filhol, E, Blisnick, T, Henneveu, A, Montenont, E, Perrault, I, Boyle-Feysot, C, Rozet, J-M, Bastin, P, Arts, HH, Antignac, C, Benmerah, AR
Publicado em 2012