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Page 1
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM. Perrault I, et al. Among authors: leowski c. PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7. PLoS One. 2013. PMID: 23308101 Free PMC article.
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: leowski c. 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: leowski c. 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: leowski c. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027
A gene for Leber's congenital amaurosis maps to chromosome 17p.
Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al. Camuzat A, et al. Among authors: leowski c. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387
[Associated forms of hereditary chorioretinal degeneration].
Manderieux N, Dufier JL, Kaplan J, Aicardi J, Saudubray JM, Leowski C, Frezal J. Manderieux N, et al. Among authors: leowski c. Ophtalmologie. 1989 Jun-Aug;3(3):193-5. Ophtalmologie. 1989. PMID: 2641108 French.
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