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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Bonetti G, et al. Among authors: bertelli m. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. Int J Mol Sci. 2023. PMID: 38069202 Free PMC article.
Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
Galli-Resta L, Falsini B, Rossi G, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Campagna F, Abed E, Bertelli M, Zuntini M, Resta G. Galli-Resta L, et al. Among authors: bertelli m. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3759-68. doi: 10.1167/iovs.15-18313. Invest Ophthalmol Vis Sci. 2016. PMID: 27415794
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M. Nicoletti A, et al. Among authors: bertelli m. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. Genet Test Mol Biomarkers. 2017. PMID: 27997221 Free PMC article.
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy.
Galli-Resta L, Placidi G, Campagna F, Ziccardi L, Piccardi M, Minnella A, Abed E, Iovine S, Maltese P, Bertelli M, Falsini B. Galli-Resta L, et al. Among authors: bertelli m. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):3827-3835. doi: 10.1167/iovs.17-23703. Invest Ophthalmol Vis Sci. 2018. PMID: 30073356
410 results