Dufier JL - Search Results

1

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: dufier jl. Eur J Hum Genet. 1998 May-Jun;6(3):291-5. doi: 10.1038/sj.ejhg.5200221. Eur J Hum Genet. 1998. PMID: 9781034

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

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. Hanein S, et al. Among authors: dufier jl. Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327736 Free PMC article.

4

[Hereditary macular dystrophies].

Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J. Rozet JM, et al. Among authors: dufier jl. J Fr Ophtalmol. 2005 Jan;28(1):113-24. doi: 10.1016/s0181-5512(05)81033-2. J Fr Ophtalmol. 2005. PMID: 15767907 Review. French.

5

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.

6

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: dufier jl. 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.

7

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

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

Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.

Souied EH, Rozet JM, Gerber S, Dufier JL, Soubrane G, Coscas G, Munnich A, Kaplan J. Souied EH, et al. Among authors: dufier jl. Eur J Ophthalmol. 1998 Apr-Jun;8(2):98-101. doi: 10.1177/112067219800800208. Eur J Ophthalmol. 1998. PMID: 9673478

10

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

Rozet JM, Gerber S, Souied E, Ducroq D, Perrault I, Ghazi I, Soubrane G, Coscas G, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: dufier jl. Mol Genet Metab. 1999 Oct;68(2):310-5. doi: 10.1006/mgme.1999.2925. Mol Genet Metab. 1999. PMID: 10527682 Review. No abstract available.

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