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Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F. Esposito G, et al. Among authors: rossi s. Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21905166
A novel mutation in the RDS gene in an Italian family with pattern dystrophy.
Testa F, Marini V, Rossi S, Interlandi E, Nesti A, Rinaldi M, Varano M, Garré C, Simonelli F. Testa F, et al. Among authors: rossi s. Br J Ophthalmol. 2005 Aug;89(8):1066-8. doi: 10.1136/bjo.2004.064188. Br J Ophthalmol. 2005. PMID: 16024869 Free PMC article. No abstract available.
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S. Simonelli F, et al. Among authors: rossi s. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.
Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi S, Marshall K, Banfi S, Surace EM, Sun J, Redmond TM, Zhu X, Shindler KS, Ying GS, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, Auricchio A. Simonelli F, et al. Among authors: rossi s. Mol Ther. 2010 Mar;18(3):643-50. doi: 10.1038/mt.2009.277. Epub 2009 Dec 1. Mol Ther. 2010. PMID: 19953081 Free PMC article. Clinical Trial.
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM. Gargiulo A, et al. Among authors: rossi s. Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar. Invest Ophthalmol Vis Sci. 2011. PMID: 20861488 Free PMC article.
3,383 results