FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2038352675> ?p ?o ?g. }

• W2038352675 endingPage "3687" @default.
• W2038352675 startingPage "3687" @default.
• W2038352675 abstract "Purpose.: To identify the prevalence of rhodopsin (RHO) mutations in French patients with autosomal dominant rod–cone dystrophies (adRPs). Methods.: Detailed phenotypic characterization was performed, including precise family history, best corrected visual acuity with the ETDRS chart, slit lamp examination, kinetic and static perimetry, full-field and multifocal electroretinography (ERG), fundus autofluorescence imaging (FAF), and optical coherence tomography (OCT). For genetic diagnosis, genomic DNA of 79 families was isolated by standard methods. The coding exons and flanking intronic regions of RHO were PCR amplified, purified, and sequenced in the index patient. Results.: Of this French adRP sample, 16.5% carried an RHO mutation. Three different families showed a novel mutation (p. Leu88Pro, p.Met207Lys and p.Gln344Pro), while ten unrelated families showed recurrent, previously published mutations (p.Asn15Ser, p.Leu131Pro, p.Arg135Trp, p.Ser334GlyfsX21 and p.Pro347Leu). All mutations co-segregated with the phenotype within a family, and the novel mutations were not identified in control samples. Conclusions.: This study revealed that the prevalence of RHO mutations in French adRP patients is in accordance with that in other studies from Europe. Most of the changes identified herein reflect recurrent mutations, within which p.Pro347Leu substitution is the most prevalent. Nevertheless, almost one fourth of the changes are novel, indicating that, although RHO is the first gene implicated and probably the most studied gene in RP, it is still important performing mutation analysis in RHO to detect novel changes. The detailed phenotype–genotype analyses in all available family members deliver the basis for therapeutic approaches in those families." @default.
• W2038352675 created "2016-06-24" @default.
• W2038352675 creator A5003413277 @default.
• W2038352675 creator A5003862700 @default.
• W2038352675 creator A5021294516 @default.
• W2038352675 creator A5021422523 @default.
• W2038352675 creator A5025255544 @default.
• W2038352675 creator A5034082446 @default.
• W2038352675 creator A5041807904 @default.
• W2038352675 creator A5051713747 @default.
• W2038352675 creator A5064593570 @default.
• W2038352675 creator A5077263630 @default.
• W2038352675 creator A5077263714 @default.
• W2038352675 creator A5079464717 @default.
• W2038352675 creator A5083982156 @default.
• W2038352675 date "2010-07-01" @default.
• W2038352675 modified "2023-10-18" @default.
• W2038352675 title "Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients" @default.
• W2038352675 cites W1484494377 @default.
• W2038352675 cites W1528495821 @default.
• W2038352675 cites W1529010561 @default.
• W2038352675 cites W1550821538 @default.
• W2038352675 cites W1575279402 @default.
• W2038352675 cites W1599492657 @default.
• W2038352675 cites W1603150403 @default.
• W2038352675 cites W1866273988 @default.
• W2038352675 cites W1966429379 @default.
• W2038352675 cites W1986126870 @default.
• W2038352675 cites W1988356789 @default.
• W2038352675 cites W1990243611 @default.
• W2038352675 cites W2000894287 @default.
• W2038352675 cites W2005557667 @default.
• W2038352675 cites W2008408333 @default.
• W2038352675 cites W2008644691 @default.
• W2038352675 cites W2032360194 @default.
• W2038352675 cites W2034860178 @default.
• W2038352675 cites W2039242887 @default.
• W2038352675 cites W2042229468 @default.
• W2038352675 cites W2046034472 @default.
• W2038352675 cites W2064319275 @default.
• W2038352675 cites W2065228858 @default.
• W2038352675 cites W2067453249 @default.
• W2038352675 cites W2089140433 @default.
• W2038352675 cites W2090830915 @default.
• W2038352675 cites W2091776690 @default.
• W2038352675 cites W2094967199 @default.
• W2038352675 cites W2118094114 @default.
• W2038352675 cites W2118200380 @default.
• W2038352675 cites W2121693659 @default.
• W2038352675 cites W2128418445 @default.
• W2038352675 cites W2141707485 @default.
• W2038352675 cites W2143732398 @default.
• W2038352675 cites W2154826595 @default.
• W2038352675 cites W2155349225 @default.
• W2038352675 cites W2159894634 @default.
• W2038352675 cites W2163608174 @default.
• W2038352675 cites W2318841795 @default.
• W2038352675 cites W2408809719 @default.
• W2038352675 cites W2410662158 @default.
• W2038352675 cites W2410962742 @default.
• W2038352675 doi "https://doi.org/10.1167/iovs.09-4766" @default.
• W2038352675 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3102265" @default.
• W2038352675 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20164459" @default.
• W2038352675 hasPublicationYear "2010" @default.
• W2038352675 type Work @default.
• W2038352675 sameAs 2038352675 @default.
• W2038352675 citedByCount "42" @default.
• W2038352675 countsByYear W20383526752012 @default.
• W2038352675 countsByYear W20383526752013 @default.
• W2038352675 countsByYear W20383526752014 @default.
• W2038352675 countsByYear W20383526752015 @default.
• W2038352675 countsByYear W20383526752016 @default.
• W2038352675 countsByYear W20383526752017 @default.
• W2038352675 countsByYear W20383526752018 @default.
• W2038352675 countsByYear W20383526752019 @default.
• W2038352675 countsByYear W20383526752020 @default.
• W2038352675 countsByYear W20383526752021 @default.
• W2038352675 countsByYear W20383526752022 @default.
• W2038352675 countsByYear W20383526752023 @default.
• W2038352675 crossrefType "journal-article" @default.
• W2038352675 hasAuthorship W2038352675A5003413277 @default.
• W2038352675 hasAuthorship W2038352675A5003862700 @default.
• W2038352675 hasAuthorship W2038352675A5021294516 @default.
• W2038352675 hasAuthorship W2038352675A5021422523 @default.
• W2038352675 hasAuthorship W2038352675A5025255544 @default.
• W2038352675 hasAuthorship W2038352675A5034082446 @default.
• W2038352675 hasAuthorship W2038352675A5041807904 @default.
• W2038352675 hasAuthorship W2038352675A5051713747 @default.
• W2038352675 hasAuthorship W2038352675A5064593570 @default.
• W2038352675 hasAuthorship W2038352675A5077263630 @default.
• W2038352675 hasAuthorship W2038352675A5077263714 @default.
• W2038352675 hasAuthorship W2038352675A5079464717 @default.
• W2038352675 hasAuthorship W2038352675A5083982156 @default.
• W2038352675 hasBestOaLocation W20383526752 @default.
• W2038352675 hasConcept C104317684 @default.
• W2038352675 hasConcept C118487528 @default.
• W2038352675 hasConcept C127716648 @default.
• W2038352675 hasConcept C135763542 @default.

• next