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A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, Kaplan J. Perrault I, et al. Among authors: souied e. Am J Hum Genet. 1998 Aug;63(2):651-4. doi: 10.1086/301985. Am J Hum Genet. 1998. PMID: 9683616 Free PMC article. No abstract available.
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.
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. 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.
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.
617 results