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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro.
Afiliação
  • Karali M; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Testa F; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131, Naples, Italy.
  • Di Iorio V; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131, Naples, Italy.
  • Torella A; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131, Naples, Italy.
  • Zeuli R; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Scarpato M; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078, Pozzuoli, Italy.
  • Romano F; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Onore ME; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Pizzo M; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Melillo P; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Brunetti-Pierri R; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078, Pozzuoli, Italy.
  • Passerini I; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131, Naples, Italy.
  • Pelo E; Multidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131, Naples, Italy.
  • Cremers FPM; Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy.
  • Esposito G; Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy.
  • Nigro V; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Simonelli F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131, Naples, Italy.
  • Banfi S; CEINGE-Advanced Biotechnologies, Via G. Salvatore 486, 80145, Naples, Italy.
Sci Rep ; 12(1): 20815, 2022 12 02.
Article em En | MEDLINE | ID: mdl-36460718
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças Retinianas Tipo de estudo: Observational_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Sci Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças Retinianas Tipo de estudo: Observational_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Sci Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália