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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
The aging of the retina.
Bonnel S, Mohand-Said S, Sahel JA. Bonnel S, et al. Exp Gerontol. 2003 Aug;38(8):825-31. doi: 10.1016/s0531-5565(03)00093-7. Exp Gerontol. 2003. PMID: 12915204 Review.
Inherited retinal degenerations: therapeutic prospects.
Delyfer MN, Léveillard T, Mohand-Saïd S, Hicks D, Picaud S, Sahel JA. Delyfer MN, et al. Biol Cell. 2004 May;96(4):261-9. doi: 10.1016/j.biolcel.2004.01.006. Biol Cell. 2004. PMID: 15145530 Review.
Identification and characterization of rod-derived cone viability factor.
Léveillard T, Mohand-Saïd S, Lorentz O, Hicks D, Fintz AC, Clérin E, Simonutti M, Forster V, Cavusoglu N, Chalmel F, Dollé P, Poch O, Lambrou G, Sahel JA. Léveillard T, et al. Nat Genet. 2004 Jul;36(7):755-9. doi: 10.1038/ng1386. Epub 2004 Jun 27. Nat Genet. 2004. PMID: 15220920 Free article.
140 results