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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR ORF15 Genetic Variants.

Autor: Bonetti, Gabriele, Cozza, William, Bernini, Andrea, Kaftalli, Jurgen, Mareso, Chiara, Cristofoli, Francesca, Medori, Maria Chiara, Colombo, Leonardo, Martella, Salvatore, Staurenghi, Giovanni, Salvetti, Anna Paola, Falsini, Benedetto, Placidi, Giorgio, Attanasio, Marcella, Pertile, Grazia, Bengala, Mario, Bosello, Francesca, Petracca, Antonio, D'Esposito, Fabiana, Toschi, Benedetta

Publikováno v: International Journal of Molecular Sciences; Dec2023, Vol. 24 Issue 23, p16881, 12p

Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.

Autor: Colombo L; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy., Bonetti G; MAGI'S LAB S.R.L., Rovereto, Italy.; Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy., Maltese PE; MAGI'S LAB S.R.L., Rovereto, Italy., Iarossi G; Department of Ophthalmology, Bambino Gesù Children's Hospital, Rome, Italy., Ziccardi L; IRCCS-Fondazione Bietti, Rome, Italy., Fogagnolo P; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy., De Ruvo V; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy., Murro V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Giorgio D; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Falsini B; Department of Ophthalmology, Bambino Gesù Children's Hospital, Rome, Italy.; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Università Cattolica del S. Cuore, Rome, Italy., Placidi G; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Università Cattolica del S. Cuore, Rome, Italy., Martella S; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy., Galantin E; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy., Bertelli M; MAGI'S LAB S.R.L., Rovereto, Italy.; MAGI EUREGIO, Bolzano, Italy.; MAGISNAT, Atlanta Tech Park, Peachtree Corners, Georgia, USA., Rossetti L; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, Milan, Italy.

Publikováno v: Ophthalmic research [Ophthalmic Res] 2024; Vol. 67 (1), pp. 301-310. Date of Electronic Publication: 2024 May 07.