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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Esposito, Gabriella; Testa, Francesco; Zacchia, Miriam; Crispo, Anna Alessia; Di Iorio, Valentina; Capolongo, Giovanna; Rinaldi, Luca; D'Antonio, Marcella; Fioretti, Tiziana; Iadicicco, Pasquale; Rossi, Settimio; Franzè, Annamaria; Marciano, Elio; Capasso, Giovanbattista; Simonelli, Francesca; Salvatore, Francesco.
Affiliation
  • Esposito G; CEINGE-Biotecnologie Avanzate s.c.a r.l., Via Gaetano Salvatore 486, I-80145, Naples, Italy.
  • Testa F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Zacchia M; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Crispo AA; Department of Nephrology, Second University of Naples, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Di Iorio V; CEINGE-Biotecnologie Avanzate s.c.a r.l., Via Gaetano Salvatore 486, I-80145, Naples, Italy.
  • Capolongo G; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Rinaldi L; Department of Nephrology, Second University of Naples, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • D'Antonio M; Department of Nephrology, Second University of Naples, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Fioretti T; CEINGE-Biotecnologie Avanzate s.c.a r.l., Via Gaetano Salvatore 486, I-80145, Naples, Italy.
  • Iadicicco P; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Rossi S; IRCCS-Fondazione SDN Naples, Via Emanuele Gianturco 113, I-80143, Naples, Italy.
  • Franzè A; Area of Audiology, Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Marciano E; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Capasso G; CEINGE-Biotecnologie Avanzate s.c.a r.l., Via Gaetano Salvatore 486, I-80145, Naples, Italy.
  • Simonelli F; Area of Audiology, Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Via Sergio Pansini 5, I-80131, Naples, Italy.
  • Salvatore F; Area of Audiology, Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Via Sergio Pansini 5, I-80131, Naples, Italy.
BMC Med Genet ; 18(1): 10, 2017 Feb 01.
Article in En | MEDLINE | ID: mdl-28143435
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bardet-Biedl Syndrome / White People / Eye / Kidney Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bardet-Biedl Syndrome / White People / Eye / Kidney Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Italia Country of publication: Reino Unido