Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients (Articolo in rivista)

Type
Label
  • Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients (Articolo in rivista) (literal)
Anno
  • 2011-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1167/iovs.10-6091 (literal)
Alternative label
  • Gargiulo, Annagiusi; Testa, Francesco; Rossi, Settimio; Di Iorio, Valentina; Fecarotta, Simona; de Berardinis, Teresa; Iovine, Antonello; Magli, Adriano; Signorini, Sabrina; Fazzi, Elisa; Galantuomo, Maria Silvana; Fossarello, Maurizio; Montefusco, Sandro; Ciccodicola, Alfredo; Neri, Alberto; Macaluso, Claudio; Simonelli, Francesca; Surace, Enrico Maria (2011)
    Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients
    in Investigative ophthalmology & visual science
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Gargiulo, Annagiusi; Testa, Francesco; Rossi, Settimio; Di Iorio, Valentina; Fecarotta, Simona; de Berardinis, Teresa; Iovine, Antonello; Magli, Adriano; Signorini, Sabrina; Fazzi, Elisa; Galantuomo, Maria Silvana; Fossarello, Maurizio; Montefusco, Sandro; Ciccodicola, Alfredo; Neri, Alberto; Macaluso, Claudio; Simonelli, Francesca; Surace, Enrico Maria (literal)
Pagina inizio
  • 1281 (literal)
Pagina fine
  • 1289 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 52 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • PMID: 20861488 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 9 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 3 (literal)
Note
  • ISI Web of Science (WoS) (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Telethon Inst Genet & Med; Seconda Universita degli Studi di Napoli; University of Naples Federico II; University of Pavia; University of Brescia; University of Cagliari; University of Salerno; Consiglio Nazionale delle Ricerche (CNR); University of Parma (literal)
Titolo
  • Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients (literal)
Abstract
  • METHODS. DNA samples front 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Eighteen patients with distinct mutations in each gene associated with OCA were evaluated by detailed ophthalmic analysis, optical coherence tomography (OM, and fundus autofluorescence. (literal)
  • PURPOSE. The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. (literal)
Prodotto di
Autore CNR

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