FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2015118411> ?p ?o ?g. }

• W2015118411 endingPage "774" @default.
• W2015118411 startingPage "769" @default.
• W2015118411 abstract "Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD). Affected males of one family with Danon were invited for an extensive ophthalmologic examination, including color vision testing, fundus photography, Goldmann perimetry, full-field electroretinogram (ERG), and SD-OCT. Previous ophthalmologic data were retrieved from medical charts. The LAMP2 and RPGR gene were analyzed by direct sequencing. Two siblings had no ocular phenotype. The third sibling and a cousin developed CRD leading to legal blindness. Visual acuity deteriorated progressively over time, color vision was severely disturbed, and ERG showed reduced photopic and scotopic responses. SD-OCT revealed thinning of the photoreceptor and RPE layer. Visual fields demonstrated central scotoma. The causal mutation was p.Gly384Arg in LAMP2; no mutations were found in RPGR. This is the first description of CRD in Danon disease. The retinal phenotype was a late onset but severe dystrophy characterized by loss of photoreceptors and RPE cells. With this report, we highlight the importance of a comprehensive ophthalmologic examination in the clinical work-up of Danon disease." @default.
• W2015118411 created "2016-06-24" @default.
• W2015118411 creator A5024664083 @default.
• W2015118411 creator A5030467272 @default.
• W2015118411 creator A5044118226 @default.
• W2015118411 creator A5048319252 @default.
• W2015118411 creator A5057695261 @default.
• W2015118411 creator A5062389431 @default.
• W2015118411 date "2012-01-31" @default.
• W2015118411 modified "2023-09-27" @default.
• W2015118411 title "Cone-rod dystrophy can be a manifestation of Danon disease" @default.
• W2015118411 cites W1574603451 @default.
• W2015118411 cites W1993884883 @default.
• W2015118411 cites W2013557203 @default.
• W2015118411 cites W2059431961 @default.
• W2015118411 cites W2081155823 @default.
• W2015118411 cites W2117121951 @default.
• W2015118411 cites W2128418445 @default.
• W2015118411 cites W2144185527 @default.
• W2015118411 cites W2162129087 @default.
• W2015118411 doi "https://doi.org/10.1007/s00417-011-1857-8" @default.
• W2015118411 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3332371" @default.
• W2015118411 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22290069" @default.
• W2015118411 hasPublicationYear "2012" @default.
• W2015118411 type Work @default.
• W2015118411 sameAs 2015118411 @default.
• W2015118411 citedByCount "27" @default.
• W2015118411 countsByYear W20151184112012 @default.
• W2015118411 countsByYear W20151184112013 @default.
• W2015118411 countsByYear W20151184112014 @default.
• W2015118411 countsByYear W20151184112015 @default.
• W2015118411 countsByYear W20151184112016 @default.
• W2015118411 countsByYear W20151184112017 @default.
• W2015118411 countsByYear W20151184112018 @default.
• W2015118411 countsByYear W20151184112019 @default.
• W2015118411 countsByYear W20151184112020 @default.
• W2015118411 countsByYear W20151184112021 @default.
• W2015118411 countsByYear W20151184112022 @default.
• W2015118411 countsByYear W20151184112023 @default.
• W2015118411 crossrefType "journal-article" @default.
• W2015118411 hasAuthorship W2015118411A5024664083 @default.
• W2015118411 hasAuthorship W2015118411A5030467272 @default.
• W2015118411 hasAuthorship W2015118411A5044118226 @default.
• W2015118411 hasAuthorship W2015118411A5048319252 @default.
• W2015118411 hasAuthorship W2015118411A5057695261 @default.
• W2015118411 hasAuthorship W2015118411A5062389431 @default.
• W2015118411 hasBestOaLocation W20151184111 @default.
• W2015118411 hasConcept C103796816 @default.
• W2015118411 hasConcept C118487528 @default.
• W2015118411 hasConcept C142724271 @default.
• W2015118411 hasConcept C2776391266 @default.
• W2015118411 hasConcept C2776474195 @default.
• W2015118411 hasConcept C2777017193 @default.
• W2015118411 hasConcept C2778257484 @default.
• W2015118411 hasConcept C2779113765 @default.
• W2015118411 hasConcept C2780248432 @default.
• W2015118411 hasConcept C2780827179 @default.
• W2015118411 hasConcept C2781040256 @default.
• W2015118411 hasConcept C2781114197 @default.
• W2015118411 hasConcept C2908795567 @default.
• W2015118411 hasConcept C54497739 @default.
• W2015118411 hasConcept C71924100 @default.
• W2015118411 hasConcept C7243750 @default.
• W2015118411 hasConceptScore W2015118411C103796816 @default.
• W2015118411 hasConceptScore W2015118411C118487528 @default.
• W2015118411 hasConceptScore W2015118411C142724271 @default.
• W2015118411 hasConceptScore W2015118411C2776391266 @default.
• W2015118411 hasConceptScore W2015118411C2776474195 @default.
• W2015118411 hasConceptScore W2015118411C2777017193 @default.
• W2015118411 hasConceptScore W2015118411C2778257484 @default.
• W2015118411 hasConceptScore W2015118411C2779113765 @default.
• W2015118411 hasConceptScore W2015118411C2780248432 @default.
• W2015118411 hasConceptScore W2015118411C2780827179 @default.
• W2015118411 hasConceptScore W2015118411C2781040256 @default.
• W2015118411 hasConceptScore W2015118411C2781114197 @default.
• W2015118411 hasConceptScore W2015118411C2908795567 @default.
• W2015118411 hasConceptScore W2015118411C54497739 @default.
• W2015118411 hasConceptScore W2015118411C71924100 @default.
• W2015118411 hasConceptScore W2015118411C7243750 @default.
• W2015118411 hasIssue "5" @default.
• W2015118411 hasLocation W20151184111 @default.
• W2015118411 hasLocation W20151184112 @default.
• W2015118411 hasLocation W20151184113 @default.
• W2015118411 hasLocation W20151184114 @default.
• W2015118411 hasLocation W20151184115 @default.
• W2015118411 hasLocation W20151184116 @default.
• W2015118411 hasLocation W20151184117 @default.
• W2015118411 hasOpenAccess W2015118411 @default.
• W2015118411 hasPrimaryLocation W20151184111 @default.
• W2015118411 hasRelatedWork W1487259591 @default.
• W2015118411 hasRelatedWork W1491333409 @default.
• W2015118411 hasRelatedWork W1939955154 @default.
• W2015118411 hasRelatedWork W2007969062 @default.
• W2015118411 hasRelatedWork W2015118411 @default.
• W2015118411 hasRelatedWork W2142330001 @default.
• W2015118411 hasRelatedWork W2156788482 @default.
• W2015118411 hasRelatedWork W2419043128 @default.
• W2015118411 hasRelatedWork W2964479910 @default.

• next