FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2033766346> ?p ?o ?g. }

• W2033766346 endingPage "1032" @default.
• W2033766346 startingPage "1024" @default.
• W2033766346 abstract "Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations in patients with isolated or autosomal recessive CRD (54 cases) or RP (90 cases). We performed detailed ophthalmologic examinations and identified at least one ABCA4 mutation in 18 patients (33%) with CRD and in five patients (5.6%) with RP. Single-strand conformation polymorphism (SSCP) analysis and subsequent DNA sequencing revealed four novel missense mutations (R24C, E161K, P597S, G618E) and a novel 1-bp deletion (5888delG). Ophthalmoscopic abnormalities in CRD patients ranged from minor granular pigmentary changes in the posterior pole to widespread atrophy. In 12 patients with recordable electroretinogram (ERG) tracings, a cone-rod pattern was detected. Three patients demonstrated progression from a retinal dystrophy resembling STGD1 to a more widespread degeneration, and were subsequently diagnosed as CRD. In addition to a variable degree of atrophy, all RP patients displayed ophthalmologic characteristics of classic RP. When detectable, ERG recordings in these patients demonstrated rod-cone patterns of photoreceptor degeneration. In conclusion, in this study, we show that the ABCA4 mutation chip is an efficient first screening tool for arCRD." @default.
• W2033766346 created "2016-06-24" @default.
• W2033766346 creator A5020419239 @default.
• W2033766346 creator A5021548595 @default.
• W2033766346 creator A5026307484 @default.
• W2033766346 creator A5030844123 @default.
• W2033766346 creator A5043114297 @default.
• W2033766346 creator A5078101996 @default.
• W2033766346 creator A5086926273 @default.
• W2033766346 creator A5088556446 @default.
• W2033766346 creator A5089786582 @default.
• W2033766346 date "2004-10-20" @default.
• W2033766346 modified "2023-10-17" @default.
• W2033766346 title "Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa" @default.
• W2033766346 cites W1491333409 @default.
• W2033766346 cites W1573040585 @default.
• W2033766346 cites W1964753793 @default.
• W2033766346 cites W1965120557 @default.
• W2033766346 cites W1965137182 @default.
• W2033766346 cites W1973599492 @default.
• W2033766346 cites W1991544676 @default.
• W2033766346 cites W1994172606 @default.
• W2033766346 cites W1995625615 @default.
• W2033766346 cites W1997616950 @default.
• W2033766346 cites W2004070112 @default.
• W2033766346 cites W2005100157 @default.
• W2033766346 cites W2010421085 @default.
• W2033766346 cites W2010542360 @default.
• W2033766346 cites W2019756461 @default.
• W2033766346 cites W2022817398 @default.
• W2033766346 cites W2027664346 @default.
• W2033766346 cites W2033785387 @default.
• W2033766346 cites W2036921883 @default.
• W2033766346 cites W2038505620 @default.
• W2033766346 cites W2040946662 @default.
• W2033766346 cites W2049218980 @default.
• W2033766346 cites W2054390956 @default.
• W2033766346 cites W2055522214 @default.
• W2033766346 cites W2064063117 @default.
• W2033766346 cites W2071120499 @default.
• W2033766346 cites W2077602259 @default.
• W2033766346 cites W2082541003 @default.
• W2033766346 cites W2085917210 @default.
• W2033766346 cites W2088201362 @default.
• W2033766346 cites W2107071805 @default.
• W2033766346 cites W2123488727 @default.
• W2033766346 cites W2125422830 @default.
• W2033766346 cites W2127150613 @default.
• W2033766346 cites W2129572698 @default.
• W2033766346 cites W2133598188 @default.
• W2033766346 cites W2152909798 @default.
• W2033766346 cites W2157168427 @default.
• W2033766346 cites W2917872652 @default.
• W2033766346 cites W4313371764 @default.
• W2033766346 doi "https://doi.org/10.1038/sj.ejhg.5201258" @default.
• W2033766346 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15494742" @default.
• W2033766346 hasPublicationYear "2004" @default.
• W2033766346 type Work @default.
• W2033766346 sameAs 2033766346 @default.
• W2033766346 citedByCount "103" @default.
• W2033766346 countsByYear W20337663462012 @default.
• W2033766346 countsByYear W20337663462013 @default.
• W2033766346 countsByYear W20337663462014 @default.
• W2033766346 countsByYear W20337663462015 @default.
• W2033766346 countsByYear W20337663462016 @default.
• W2033766346 countsByYear W20337663462018 @default.
• W2033766346 countsByYear W20337663462019 @default.
• W2033766346 countsByYear W20337663462020 @default.
• W2033766346 countsByYear W20337663462021 @default.
• W2033766346 countsByYear W20337663462022 @default.
• W2033766346 countsByYear W20337663462023 @default.
• W2033766346 crossrefType "journal-article" @default.
• W2033766346 hasAuthorship W2033766346A5020419239 @default.
• W2033766346 hasAuthorship W2033766346A5021548595 @default.
• W2033766346 hasAuthorship W2033766346A5026307484 @default.
• W2033766346 hasAuthorship W2033766346A5030844123 @default.
• W2033766346 hasAuthorship W2033766346A5043114297 @default.
• W2033766346 hasAuthorship W2033766346A5078101996 @default.
• W2033766346 hasAuthorship W2033766346A5086926273 @default.
• W2033766346 hasAuthorship W2033766346A5088556446 @default.
• W2033766346 hasAuthorship W2033766346A5089786582 @default.
• W2033766346 hasBestOaLocation W20337663461 @default.
• W2033766346 hasConcept C103796816 @default.
• W2033766346 hasConcept C104317684 @default.
• W2033766346 hasConcept C118487528 @default.
• W2033766346 hasConcept C127716648 @default.
• W2033766346 hasConcept C142724271 @default.
• W2033766346 hasConcept C153911025 @default.
• W2033766346 hasConcept C2777017193 @default.
• W2033766346 hasConcept C2779113765 @default.
• W2033766346 hasConcept C2779460726 @default.
• W2033766346 hasConcept C2780604041 @default.
• W2033766346 hasConcept C2780827179 @default.
• W2033766346 hasConcept C2781040256 @default.
• W2033766346 hasConcept C2781114197 @default.
• W2033766346 hasConcept C2908795567 @default.
• W2033766346 hasConcept C501734568 @default.
• W2033766346 hasConcept C54355233 @default.

• next