Rozet JM - Search Results

1

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S, Postel-Vinay A, Janin N, Briard ML, et al. Kaplan J, et al. Among authors: rozet jm. Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308. Nat Genet. 1993. PMID: 8275096

2

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, et al. Kaplan J, et al. Among authors: rozet jm. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676

3

A gene for Leber's congenital amaurosis maps to chromosome 17p.

Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al. Camuzat A, et al. Among authors: rozet jm. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387

4

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.

Gerber S, Rozet JM, Bonneau D, Souied E, Weissenbach J, Frezal J, Munnich A, Kaplan J. Gerber S, et al. Among authors: rozet jm. Hum Genet. 1995 Apr;95(4):382-4. doi: 10.1007/BF00208959. Hum Genet. 1995. PMID: 7705831

5

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

Oliveira L, Miniou P, Viegas-Pequignot E, Rozet JM, Dollfus H, Pittler SJ. Oliveira L, et al. Among authors: rozet jm. Genomics. 1994 Jul 15;22(2):478-81. doi: 10.1006/geno.1994.1415. Genomics. 1994. PMID: 7806240

6

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

Gerber S, Rozet JM, Bonneau D, Souied E, Camuzat A, Dufier JL, Amalric P, Weissenbach J, Munnich A, Kaplan J. Gerber S, et al. Among authors: rozet jm. Am J Hum Genet. 1995 Feb;56(2):396-9. Am J Hum Genet. 1995. PMID: 7847373 Free PMC article.

7

DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR.

Rozet JM, Gerber S, Bonneau D, Munnich A, Kaplan J. Rozet JM, et al. Hum Mol Genet. 1994 Jun;3(6):1030. doi: 10.1093/hmg/3.6.1030-a. Hum Mol Genet. 1994. PMID: 7951223 No abstract available.

8

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al. Souied E, et al. Among authors: rozet jm. Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433. Hum Mol Genet. 1994. PMID: 7987331 No abstract available.

9

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. Saugier-Veber P, et al. Among authors: rozet jm. Nat Genet. 1994 Mar;6(3):257-62. doi: 10.1038/ng0394-257. Nat Genet. 1994. PMID: 8012387

10

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Rousseau F, et al. Among authors: rozet jm. Nature. 1994 Sep 15;371(6494):252-4. doi: 10.1038/371252a0. Nature. 1994. PMID: 8078586

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