Rozet JM - Search Results

1

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.

Calvas P, Ségues B, Rozet JM, Rabier D, Bonnefond JP, Munnich A. Calvas P, et al. Among authors: rozet jm. Hum Mutat. 1998;Suppl 1:S81-4. doi: 10.1002/humu.1380110128. Hum Mutat. 1998. PMID: 9452049 No abstract available.

2

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.

3

[Molecular genetics and prenatal diagnosis].

Lyonnet S, Rozet JM, Martin C, Munnich A. Lyonnet S, et al. Among authors: rozet jm. Pediatrie. 1992;47(5):359-63. Pediatrie. 1992. PMID: 1359503 French.

4

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

5

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

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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