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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. Estrada-Cuzcano A, et al. Among authors: ziviello c. Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. Arch Ophthalmol. 2012. PMID: 23143442
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium; Simonelli F, Banfi S. Peluso I, et al. Among authors: ziviello c. Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16. Orphanet J Rare Dis. 2013. PMID: 23356391 Free PMC article.
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: ziviello c. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
Testa F, Surace EM, Rossi S, Marrocco E, Gargiulo A, Di Iorio V, Ziviello C, Nesti A, Fecarotta S, Bacci ML, Giunti M, Della Corte M, Banfi S, Auricchio A, Simonelli F. Testa F, et al. Among authors: ziviello c. Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5618-24. doi: 10.1167/iovs.10-6543. Invest Ophthalmol Vis Sci. 2011. PMID: 21474771
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Lavorgna G, Lestingi M, Ziviello C, Testa F, Simonelli F, Manitto MP, Brancato R, Ferrari M, Rinaldi E, Ciccodicola A, Banfi S. Lavorgna G, et al. Among authors: ziviello c. Biochem Biophys Res Commun. 2003 Aug 29;308(3):414-21. doi: 10.1016/s0006-291x(03)01410-4. Biochem Biophys Res Commun. 2003. PMID: 12914764
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