Kaplan J - Search Results

1

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: kaplan j. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001. Mol Genet Metab. 2000. PMID: 10873396

2

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB, Garbers DL, Bird AC, Moore AT, Hunt DM. Kelsell RE, et al. Among authors: kaplan j. Hum Mol Genet. 1998 Jul;7(7):1179-84. doi: 10.1093/hmg/7.7.1179. Hum Mol Genet. 1998. PMID: 9618177

3

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: kaplan j. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.

4

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: kaplan j. 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.

5

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F. Verloes A, et al. Among authors: kaplan j. Am J Med Genet. 1993 Apr 15;46(2):132-7. doi: 10.1002/ajmg.1320460206. Am J Med Genet. 1993. PMID: 8484397 Review.

6

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Camuzat A, Rozet JM, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich A, Kaplan J. Camuzat A, et al. Among authors: kaplan j. Hum Genet. 1996 Jun;97(6):798-801. doi: 10.1007/BF02346192. Hum Genet. 1996. PMID: 8641699

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: kaplan j. 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: kaplan j. 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: kaplan j. 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: kaplan j. 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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