Rozet JM - Search Results

1

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

2

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, Abouaf L, Bouhour F, Kaplan J, Putoux A, Pegat A, Rozet JM. Gerber S, et al. Among authors: rozet jm. EMBO Mol Med. 2023 Aug 7;15(8):e16090. doi: 10.15252/emmm.202216090. Epub 2023 Jul 11. EMBO Mol Med. 2023. PMID: 37431816 Free PMC article.

3

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Lenaers G, Beaulieu C, Charif M, Gerber S, Kaplan J, Rozet JM. Lenaers G, et al. Among authors: rozet jm. Brain. 2023 Aug 1;146(8):3156-3161. doi: 10.1093/brain/awad131. Brain. 2023. PMID: 37071596 Free PMC article.

4

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

5

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

6

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.

Larget-Piet D, Rozet JM, Gerber S, Dollfus H, Munnich A, Kaplan J. Larget-Piet D, et al. Among authors: rozet jm. Hum Mol Genet. 1993 Dec;2(12):2201. doi: 10.1093/hmg/2.12.2201-a. Hum Mol Genet. 1993. PMID: 8111401 No abstract available.

7

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

8

Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.

Dollfus H, Rozet JM, Musarella MA, Kaplan J, Munnich A. Dollfus H, et al. Among authors: rozet jm. Hum Mol Genet. 1993 Jul;2(7):1081. doi: 10.1093/hmg/2.7.1081. Hum Mol Genet. 1993. PMID: 8364556 No abstract available.

9

Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25).

Dollfus H, Mattei MG, Rozet JM, Delrieu O, Munnich A, Kaplan J. Dollfus H, et al. Among authors: rozet jm. Genomics. 1993 Aug;17(2):526-8. doi: 10.1006/geno.1993.1364. Genomics. 1993. PMID: 8406511 No abstract available.

10

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Camuzat A, Rozet JM, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich A, Kaplan J. Camuzat A, et al. Among authors: rozet jm. Hum Genet. 1996 Jun;97(6):798-801. doi: 10.1007/BF02346192. Hum Genet. 1996. PMID: 8641699

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