Dufier JL - 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: dufier jl. Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308. Nat Genet. 1993. PMID: 8275096

2

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. Barbet F, et al. Among authors: dufier jl. Eur J Hum Genet. 2003 Dec;11(12):966-71. doi: 10.1038/sj.ejhg.5201070. Eur J Hum Genet. 2003. PMID: 14508503

3

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: dufier jl. Am J Hum Genet. 1995 Feb;56(2):396-9. Am J Hum Genet. 1995. PMID: 7847373 Free PMC article.

4

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

Gerber S, Odent S, Postel-Vinay A, Janin N, Dufier JL, Munnich A, Frezal J, Kaplan J. Gerber S, et al. Among authors: dufier jl. J Med Genet. 1994 Mar;31(3):222-3. doi: 10.1136/jmg.31.3.222. J Med Genet. 1994. PMID: 8014971 Free PMC article.

5

Genetic heterogeneity of Usher syndrome type 1 in French families.

Larget-Piet D, Gerber S, Bonneau D, Rozet JM, Marc S, Ghazi I, Dufier JL, David A, Bitoun P, Weissenbach J, et al. Larget-Piet D, et al. Among authors: dufier jl. Genomics. 1994 May 1;21(1):138-43. doi: 10.1006/geno.1994.1235. Genomics. 1994. PMID: 8088781

6

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Perrault I, et al. Among authors: dufier jl. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027

7

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: dufier jl. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.

8

Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.

Perrault I, Châtelin S, Nancy V, Rozet JM, Gerber S, Ghazi I, Souied E, Dufier JL, Munnich A, de Gunzburg J, Kaplan J. Perrault I, et al. Among authors: dufier jl. Hum Genet. 1998 Mar;102(3):322-6. doi: 10.1007/s004390050699. Hum Genet. 1998. PMID: 9544846

9

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: dufier jl. J Med Genet. 1999 Jun;36(6):447-51. J Med Genet. 1999. PMID: 10874631 Free PMC article.

10

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: dufier jl. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676

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