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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.
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
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
Evidence for a fourth locus in Usher syndrome type I.
Gerber S, Larget-Piet D, Rozet JM, Bonneau D, Mathieu M, Der Kaloustian V, Munnich A, Kaplan J. Gerber S, et al. Among authors: kaplan j. J Med Genet. 1996 Jan;33(1):77-9. doi: 10.1136/jmg.33.1.77. J Med Genet. 1996. PMID: 8825055 Free PMC article.
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: kaplan j. 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.
3,400 results