Souied E - Search Results

1

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: souied e. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027

2

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: souied e. Hum Genet. 1995 Apr;95(4):382-4. doi: 10.1007/BF00208959. Hum Genet. 1995. PMID: 7705831

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

4

No evidence of genetic heterogeneity in dominant optic atrophy.

Bonneau D, Souied E, Gerber S, Rozet JM, D'Haens E, Journel H, Plessis G, Weissenbach J, Munnich A, Kaplan J. Bonneau D, et al. Among authors: souied e. J Med Genet. 1995 Dec;32(12):951-3. doi: 10.1136/jmg.32.12.951. J Med Genet. 1995. PMID: 8825922 Free PMC article.

5

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: souied e. Hum Genet. 1998 Mar;102(3):322-6. doi: 10.1007/s004390050699. Hum Genet. 1998. PMID: 9544846

6

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: souied e. Eur J Hum Genet. 1998 May-Jun;6(3):291-5. doi: 10.1038/sj.ejhg.5200221. Eur J Hum Genet. 1998. PMID: 9781034

7

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan J. Cabot A, et al. Among authors: souied e. Am J Hum Genet. 1999 Apr;64(4):1141-6. doi: 10.1086/302324. Am J Hum Genet. 1999. PMID: 10090899 Free PMC article.

8

Leber congenital amaurosis.

Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: souied e. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.

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: souied e. J Med Genet. 1999 Jun;36(6):447-51. J Med Genet. 1999. PMID: 10874631 Free PMC article.

10

Spectrum of retGC1 mutations in Leber's congenital amaurosis.

Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: souied e. Eur J Hum Genet. 2000 Aug;8(8):578-82. doi: 10.1038/sj.ejhg.5200503. Eur J Hum Genet. 2000. PMID: 10951519

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