FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2047984819> ?p ?o ?g. }

• W2047984819 endingPage "1281" @default.
• W2047984819 startingPage "1281" @default.
• W2047984819 abstract "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. Methods.: DNA samples from 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 (OCT), and fundus autofluorescence. Results.: Disease-causing mutations were identified in more than 95% of analyzed patients with OCA (28/45 [62.2%] cases with two or more mutations; 15/45 [33.3%] cases with one mutation). Thirty-five different mutant alleles were identified of which 15 were novel. Mutations in TYR were the most frequent (73.3%), whereas mutations in P occurred more rarely (13.3%) than previously reported. Novel mutations were also identified in rare loci such as TYRP1 and MATP. Mutations in the OA1 gene were not detected. Clinical assessment revealed that patients with iris and macular pigmentation had significantly higher visual acuity than did severe hypopigmented phenotypes. Conclusions.: TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation." @default.
• W2047984819 created "2016-06-24" @default.
• W2047984819 creator A5003589003 @default.
• W2047984819 creator A5003913087 @default.
• W2047984819 creator A5004120120 @default.
• W2047984819 creator A5009911982 @default.
• W2047984819 creator A5014713401 @default.
• W2047984819 creator A5017458885 @default.
• W2047984819 creator A5031273402 @default.
• W2047984819 creator A5043613312 @default.
• W2047984819 creator A5049773865 @default.
• W2047984819 creator A5053628476 @default.
• W2047984819 creator A5058485837 @default.
• W2047984819 creator A5071595622 @default.
• W2047984819 creator A5072571429 @default.
• W2047984819 creator A5075371367 @default.
• W2047984819 creator A5078788954 @default.
• W2047984819 creator A5079186791 @default.
• W2047984819 creator A5083597160 @default.
• W2047984819 creator A5088818305 @default.
• W2047984819 date "2011-03-09" @default.
• W2047984819 modified "2023-09-26" @default.
• W2047984819 title "Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients" @default.
• W2047984819 cites W110122724 @default.
• W2047984819 cites W1266173219 @default.
• W2047984819 cites W134957199 @default.
• W2047984819 cites W145117751 @default.
• W2047984819 cites W1482656728 @default.
• W2047984819 cites W1506097773 @default.
• W2047984819 cites W1522619817 @default.
• W2047984819 cites W1570260154 @default.
• W2047984819 cites W1971325391 @default.
• W2047984819 cites W1971520686 @default.
• W2047984819 cites W1973439201 @default.
• W2047984819 cites W1984279815 @default.
• W2047984819 cites W1991419807 @default.
• W2047984819 cites W1997895697 @default.
• W2047984819 cites W2006800977 @default.
• W2047984819 cites W2009414290 @default.
• W2047984819 cites W2030226370 @default.
• W2047984819 cites W2041880511 @default.
• W2047984819 cites W2044859966 @default.
• W2047984819 cites W2048554203 @default.
• W2047984819 cites W2051648246 @default.
• W2047984819 cites W2061060278 @default.
• W2047984819 cites W2064274217 @default.
• W2047984819 cites W2065846034 @default.
• W2047984819 cites W2070416512 @default.
• W2047984819 cites W2080030928 @default.
• W2047984819 cites W2088012824 @default.
• W2047984819 cites W2099285024 @default.
• W2047984819 cites W2113790489 @default.
• W2047984819 cites W2115643821 @default.
• W2047984819 cites W2129710963 @default.
• W2047984819 cites W2140107851 @default.
• W2047984819 cites W2142566114 @default.
• W2047984819 cites W2155385974 @default.
• W2047984819 cites W2159527519 @default.
• W2047984819 cites W2160989770 @default.
• W2047984819 cites W2417117400 @default.
• W2047984819 cites W3192983025 @default.
• W2047984819 cites W37289312 @default.
• W2047984819 cites W48445379 @default.
• W2047984819 cites W76963421 @default.
• W2047984819 doi "https://doi.org/10.1167/iovs.10-6091" @default.
• W2047984819 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3101674" @default.
• W2047984819 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20861488" @default.
• W2047984819 hasPublicationYear "2011" @default.
• W2047984819 type Work @default.
• W2047984819 sameAs 2047984819 @default.
• W2047984819 citedByCount "56" @default.
• W2047984819 countsByYear W20479848192012 @default.
• W2047984819 countsByYear W20479848192013 @default.
• W2047984819 countsByYear W20479848192014 @default.
• W2047984819 countsByYear W20479848192015 @default.
• W2047984819 countsByYear W20479848192016 @default.
• W2047984819 countsByYear W20479848192017 @default.
• W2047984819 countsByYear W20479848192018 @default.
• W2047984819 countsByYear W20479848192019 @default.
• W2047984819 countsByYear W20479848192020 @default.
• W2047984819 countsByYear W20479848192021 @default.
• W2047984819 countsByYear W20479848192022 @default.
• W2047984819 countsByYear W20479848192023 @default.
• W2047984819 crossrefType "journal-article" @default.
• W2047984819 hasAuthorship W2047984819A5003589003 @default.
• W2047984819 hasAuthorship W2047984819A5003913087 @default.
• W2047984819 hasAuthorship W2047984819A5004120120 @default.
• W2047984819 hasAuthorship W2047984819A5009911982 @default.
• W2047984819 hasAuthorship W2047984819A5014713401 @default.
• W2047984819 hasAuthorship W2047984819A5017458885 @default.
• W2047984819 hasAuthorship W2047984819A5031273402 @default.
• W2047984819 hasAuthorship W2047984819A5043613312 @default.
• W2047984819 hasAuthorship W2047984819A5049773865 @default.
• W2047984819 hasAuthorship W2047984819A5053628476 @default.
• W2047984819 hasAuthorship W2047984819A5058485837 @default.
• W2047984819 hasAuthorship W2047984819A5071595622 @default.
• W2047984819 hasAuthorship W2047984819A5072571429 @default.
• W2047984819 hasAuthorship W2047984819A5075371367 @default.

• next