FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3039479962> ?p ?o ?g. }

• W3039479962 endingPage "439" @default.
• W3039479962 startingPage "432" @default.
• W3039479962 abstract "Background Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants.Materials and Methods Four affected individuals were involved in this study. Three of them underwent detailed ophthalmic examinations, including best-corrected visual acuity (BCVA), dilated ophthalmoscopy, optical coherence tomography (OCT), visual field testing, and electroretinograms (ERG). The DNA sample of the proband was sequenced using our customized capture panel, which includes 338 retinal disease genes. Sanger sequencing was performed for validation and segregation.Results Affected subjects manifested typical WVR features, including an optically empty vitreous with vitreoretinal membranes and veils, chorioretinal atrophy, and presenile cataracts. One patient was complicated with retinal detachment. BCVA ranged from light perception to 20/33. Reduced retinal thickness, loss, or discontinuation of ellipsoid and interdigitation zone were shown by OCT. Visual field testing displayed various degrees of peripheral vision loss. ERG recorded moderate to severe decline of both rod and cone responses. Next generation sequencing (NGS) combined with segregation test revealed two splice-site pathogenic variants (c.9265 + 2 T > A and c.4004–1 G > T) in VCAN gene.Conclusions Clinical manifestations are highly variable among WVR patients. Retinal detachment is common in WVR and the most vision-threatening complication. Next generation sequencing is a useful tool in precise diagnosis of this spectrum of diseases with highly heterogeneous or overlapped phenotypes." @default.
• W3039479962 created "2020-07-10" @default.
• W3039479962 creator A5042566435 @default.
• W3039479962 creator A5042747827 @default.
• W3039479962 creator A5047322304 @default.
• W3039479962 creator A5052957645 @default.
• W3039479962 creator A5073254243 @default.
• W3039479962 creator A5075537048 @default.
• W3039479962 date "2020-07-06" @default.
• W3039479962 modified "2023-10-14" @default.
• W3039479962 title "Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy" @default.
• W3039479962 cites W1592701657 @default.
• W3039479962 cites W1966276598 @default.
• W3039479962 cites W1987205887 @default.
• W3039479962 cites W2011321178 @default.
• W3039479962 cites W2014496245 @default.
• W3039479962 cites W2021388903 @default.
• W3039479962 cites W2029584153 @default.
• W3039479962 cites W2030482221 @default.
• W3039479962 cites W2047534535 @default.
• W3039479962 cites W2048377708 @default.
• W3039479962 cites W2057689386 @default.
• W3039479962 cites W2059145105 @default.
• W3039479962 cites W2062716202 @default.
• W3039479962 cites W2065293329 @default.
• W3039479962 cites W2075724573 @default.
• W3039479962 cites W2076357933 @default.
• W3039479962 cites W2077787084 @default.
• W3039479962 cites W2085610407 @default.
• W3039479962 cites W2108701619 @default.
• W3039479962 cites W2111326065 @default.
• W3039479962 cites W2118696915 @default.
• W3039479962 cites W2129621005 @default.
• W3039479962 cites W2143238378 @default.
• W3039479962 cites W2144606074 @default.
• W3039479962 cites W2145187337 @default.
• W3039479962 cites W2156763800 @default.
• W3039479962 cites W2157858109 @default.
• W3039479962 cites W2172112282 @default.
• W3039479962 cites W2217452270 @default.
• W3039479962 cites W2320049655 @default.
• W3039479962 cites W2397906797 @default.
• W3039479962 cites W2525249611 @default.
• W3039479962 cites W2766561550 @default.
• W3039479962 cites W2884200783 @default.
• W3039479962 cites W2909351065 @default.
• W3039479962 cites W2909451167 @default.
• W3039479962 doi "https://doi.org/10.1080/13816810.2020.1786843" @default.
• W3039479962 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32623950" @default.
• W3039479962 hasPublicationYear "2020" @default.
• W3039479962 type Work @default.
• W3039479962 sameAs 3039479962 @default.
• W3039479962 citedByCount "2" @default.
• W3039479962 countsByYear W30394799622022 @default.
• W3039479962 crossrefType "journal-article" @default.
• W3039479962 hasAuthorship W3039479962A5042566435 @default.
• W3039479962 hasAuthorship W3039479962A5042747827 @default.
• W3039479962 hasAuthorship W3039479962A5047322304 @default.
• W3039479962 hasAuthorship W3039479962A5052957645 @default.
• W3039479962 hasAuthorship W3039479962A5073254243 @default.
• W3039479962 hasAuthorship W3039479962A5075537048 @default.
• W3039479962 hasConcept C104317684 @default.
• W3039479962 hasConcept C118487528 @default.
• W3039479962 hasConcept C119767625 @default.
• W3039479962 hasConcept C2779059073 @default.
• W3039479962 hasConcept C2780428090 @default.
• W3039479962 hasConcept C2780827179 @default.
• W3039479962 hasConcept C2781040256 @default.
• W3039479962 hasConcept C2781114197 @default.
• W3039479962 hasConcept C51679486 @default.
• W3039479962 hasConcept C54355233 @default.
• W3039479962 hasConcept C71924100 @default.
• W3039479962 hasConcept C76818968 @default.
• W3039479962 hasConcept C86803240 @default.
• W3039479962 hasConceptScore W3039479962C104317684 @default.
• W3039479962 hasConceptScore W3039479962C118487528 @default.
• W3039479962 hasConceptScore W3039479962C119767625 @default.
• W3039479962 hasConceptScore W3039479962C2779059073 @default.
• W3039479962 hasConceptScore W3039479962C2780428090 @default.
• W3039479962 hasConceptScore W3039479962C2780827179 @default.
• W3039479962 hasConceptScore W3039479962C2781040256 @default.
• W3039479962 hasConceptScore W3039479962C2781114197 @default.
• W3039479962 hasConceptScore W3039479962C51679486 @default.
• W3039479962 hasConceptScore W3039479962C54355233 @default.
• W3039479962 hasConceptScore W3039479962C71924100 @default.
• W3039479962 hasConceptScore W3039479962C76818968 @default.
• W3039479962 hasConceptScore W3039479962C86803240 @default.
• W3039479962 hasFunder F4320321001 @default.
• W3039479962 hasFunder F4320322919 @default.
• W3039479962 hasFunder F4320323137 @default.
• W3039479962 hasIssue "5" @default.
• W3039479962 hasLocation W30394799621 @default.
• W3039479962 hasOpenAccess W3039479962 @default.
• W3039479962 hasPrimaryLocation W30394799621 @default.
• W3039479962 hasRelatedWork W2020440228 @default.
• W3039479962 hasRelatedWork W2055540927 @default.
• W3039479962 hasRelatedWork W2071866903 @default.
• W3039479962 hasRelatedWork W2223030615 @default.

• next