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Oguchi type I caused by a homozygous missense variation in the SAG gene.
Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L. Colombo L, et al. Among authors: rossetti l. Eur J Med Genet. 2019 Sep;62(9):103548. doi: 10.1016/j.ejmg.2018.09.015. Epub 2018 Sep 27. Eur J Med Genet. 2019. PMID: 30267901
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Among authors: rossetti l. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Among authors: rossetti l. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Colombo L, Maltese PE, Romano D, Fogagnolo P, Castori M, Marceddu G, Cristofoli F, Percio M, Piteková B, Modarelli AM, Bertelli M, Rossetti L. Colombo L, et al. Among authors: rossetti l. Ophthalmic Res. 2022;65(2):180-195. doi: 10.1159/000520329. Epub 2021 Nov 15. Ophthalmic Res. 2022. PMID: 34781295 Free article.
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Maltese PE, et al. Among authors: rossetti l. Front Genet. 2022 Jun 28;13:914345. doi: 10.3389/fgene.2022.914345. eCollection 2022. Front Genet. 2022. PMID: 35836572 Free PMC article.
505 results