Rozet JM - Search Results

1

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.

2

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.

Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM, et al. Segues B, et al. Among authors: rozet jm. Prenat Diagn. 1995 Aug;15(8):757-61. doi: 10.1002/pd.1970150812. Prenat Diagn. 1995. PMID: 7479595

3

Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).

Silveira I, Manaia A, Melki J, Magariño C, Lunkes A, Hernandez A, Gispert S, Burlet P, Rozet JM, Coutinho P, et al. Silveira I, et al. Among authors: rozet jm. Genomics. 1993 Sep;17(3):556-9. doi: 10.1006/geno.1993.1371. Genomics. 1993. PMID: 7902323

4

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT. Hull S, et al. Among authors: rozet jm. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976. Invest Ophthalmol Vis Sci. 2016. PMID: 26968735 Free article.

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

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: rozet jm. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

7

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

Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M. Bonneau D, et al. Among authors: rozet jm. J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381. J Med Genet. 1993. PMID: 8320699 Free PMC article.

8

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

9

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

10

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

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