FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2075156508> ?p ?o ?g. }

• W2075156508 endingPage "324" @default.
• W2075156508 startingPage "315" @default.
• W2075156508 abstract "<h2>Abstract</h2> <b>Background:</b> Inherited macular dystrophies account for a major fraction of the cases of retinal degenerative disease that lead to permanent blindness. We describe the clinical and genetic findings in a Canadian family with a form of macular dystrophy resembling autosomal dominant Stargardt-like macular dystrophy. <b>Methods:</b> Standard ophthalmologic examinations were performed in members of a single five-generation Alberta family. Tests of visual acuity and colour vision, fundus photography, fluorescein angiography and electroretinography were performed in 15 affected people. Blood was collected from 24 family members, and DNA was extracted for genotyping. Genetic linkage analysis was performed using polymorphic short tandem repeat microsatellite markers located on chromosome 6q, a region containing loci for several macular disorders. <b>Results:</b> Affected family members display clinical characteristics resembling autosomal dominant Stargardt-like macular dystrophy, previously assigned to chromosome 6q (STGD3). Linkage analysis generated a peak lod score of 5.50 at an estimated recombination fraction of 0.00 for marker locus D6S300. <b>Interpretation:</b> The family described has an autosomal dominant macular dystrophy that resembles Stargardt-like macular dystrophy. The disease locus for this family maps to an interval on chromosome 6q that overlaps that for STGD3 and other retinal dystrophy loci. These findings provide further evidence that human chromosome 6q represents a hot spot for retinal disorders." @default.
• W2075156508 created "2016-06-24" @default.
• W2075156508 creator A5008326019 @default.
• W2075156508 creator A5026667958 @default.
• W2075156508 creator A5030881916 @default.
• W2075156508 creator A5070762404 @default.
• W2075156508 creator A5081971877 @default.
• W2075156508 creator A5090506365 @default.
• W2075156508 date "2000-10-01" @default.
• W2075156508 modified "2023-09-23" @default.
• W2075156508 title "Autosomal dominant Star ardt-hke macular dystrophy segregating in a large Canadian family" @default.
• W2075156508 cites W1604929717 @default.
• W2075156508 cites W1688372082 @default.
• W2075156508 cites W170051914 @default.
• W2075156508 cites W1965265115 @default.
• W2075156508 cites W1969929916 @default.
• W2075156508 cites W1970171880 @default.
• W2075156508 cites W1977847843 @default.
• W2075156508 cites W1981556863 @default.
• W2075156508 cites W1982102429 @default.
• W2075156508 cites W1983015543 @default.
• W2075156508 cites W1985682723 @default.
• W2075156508 cites W1989939875 @default.
• W2075156508 cites W1991544676 @default.
• W2075156508 cites W1991804865 @default.
• W2075156508 cites W2001098516 @default.
• W2075156508 cites W2002648388 @default.
• W2075156508 cites W2007908773 @default.
• W2075156508 cites W2014043220 @default.
• W2075156508 cites W2019067036 @default.
• W2075156508 cites W2021284278 @default.
• W2075156508 cites W2021371090 @default.
• W2075156508 cites W2022817398 @default.
• W2075156508 cites W2023872774 @default.
• W2075156508 cites W2058655449 @default.
• W2075156508 cites W2061914927 @default.
• W2075156508 cites W2070548929 @default.
• W2075156508 cites W2071088429 @default.
• W2075156508 cites W2074003811 @default.
• W2075156508 cites W2080029043 @default.
• W2075156508 cites W2080913970 @default.
• W2075156508 cites W2090948196 @default.
• W2075156508 cites W2109159638 @default.
• W2075156508 cites W2112694631 @default.
• W2075156508 cites W2125422830 @default.
• W2075156508 cites W2129572698 @default.
• W2075156508 cites W2130296229 @default.
• W2075156508 cites W2160454542 @default.
• W2075156508 cites W2217612888 @default.
• W2075156508 cites W2398370662 @default.
• W2075156508 cites W96717503 @default.
• W2075156508 cites W2058089110 @default.
• W2075156508 doi "https://doi.org/10.1016/s0008-4182(00)80059-9" @default.
• W2075156508 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11091913" @default.
• W2075156508 hasPublicationYear "2000" @default.
• W2075156508 type Work @default.
• W2075156508 sameAs 2075156508 @default.
• W2075156508 citedByCount "20" @default.
• W2075156508 countsByYear W20751565082012 @default.
• W2075156508 countsByYear W20751565082017 @default.
• W2075156508 crossrefType "journal-article" @default.
• W2075156508 hasAuthorship W2075156508A5008326019 @default.
• W2075156508 hasAuthorship W2075156508A5026667958 @default.
• W2075156508 hasAuthorship W2075156508A5030881916 @default.
• W2075156508 hasAuthorship W2075156508A5070762404 @default.
• W2075156508 hasAuthorship W2075156508A5081971877 @default.
• W2075156508 hasAuthorship W2075156508A5090506365 @default.
• W2075156508 hasConcept C104317684 @default.
• W2075156508 hasConcept C118487528 @default.
• W2075156508 hasConcept C142870003 @default.
• W2075156508 hasConcept C180754005 @default.
• W2075156508 hasConcept C2776403814 @default.
• W2075156508 hasConcept C2777017193 @default.
• W2075156508 hasConcept C2779113765 @default.
• W2075156508 hasConcept C2780827179 @default.
• W2075156508 hasConcept C2908795567 @default.
• W2075156508 hasConcept C54355233 @default.
• W2075156508 hasConcept C61320498 @default.
• W2075156508 hasConcept C71924100 @default.
• W2075156508 hasConcept C84597430 @default.
• W2075156508 hasConcept C86803240 @default.
• W2075156508 hasConceptScore W2075156508C104317684 @default.
• W2075156508 hasConceptScore W2075156508C118487528 @default.
• W2075156508 hasConceptScore W2075156508C142870003 @default.
• W2075156508 hasConceptScore W2075156508C180754005 @default.
• W2075156508 hasConceptScore W2075156508C2776403814 @default.
• W2075156508 hasConceptScore W2075156508C2777017193 @default.
• W2075156508 hasConceptScore W2075156508C2779113765 @default.
• W2075156508 hasConceptScore W2075156508C2780827179 @default.
• W2075156508 hasConceptScore W2075156508C2908795567 @default.
• W2075156508 hasConceptScore W2075156508C54355233 @default.
• W2075156508 hasConceptScore W2075156508C61320498 @default.
• W2075156508 hasConceptScore W2075156508C71924100 @default.
• W2075156508 hasConceptScore W2075156508C84597430 @default.
• W2075156508 hasConceptScore W2075156508C86803240 @default.
• W2075156508 hasIssue "6" @default.
• W2075156508 hasLocation W20751565081 @default.
• W2075156508 hasLocation W20751565082 @default.

• next