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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM. Perrault I, et al. Among authors: edelson c. Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842229
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: edelson 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.
Spontaneous retinopathy in HLA-A29 transgenic mice.
Szpak Y, Vieville JC, Tabary T, Naud MC, Chopin M, Edelson C, Cohen JH, Dausset J, de Kozak Y, Pla M. Szpak Y, et al. Among authors: edelson c. Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2572-6. doi: 10.1073/pnas.051595998. Epub 2001 Feb 13. Proc Natl Acad Sci U S A. 2001. PMID: 11226280 Free PMC article.
HLA-A29.2 subtype associated with birdshot retinochoroidopathy.
LeHoang P, Ozdemir N, Benhamou A, Tabary T, Edelson C, Betuel H, Semiglia R, Cohen JH. LeHoang P, et al. Among authors: edelson c. Am J Ophthalmol. 1992 Jan 15;113(1):33-5. doi: 10.1016/s0002-9394(14)75749-6. Am J Ophthalmol. 1992. PMID: 1728143
[Intraocular lens implantation in the first year of life].
De Laage De Meux P, Zafad R, Arndt C, Caputo G, Meunier I, Edelson C. De Laage De Meux P, et al. Among authors: edelson c. J Fr Ophtalmol. 2001 Apr;24(4):360-5. J Fr Ophtalmol. 2001. PMID: 11351207 French.
35 results