FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1558789045> ?p ?o ?g. }

• W1558789045 endingPage "138" @default.
• W1558789045 startingPage "132" @default.
• W1558789045 abstract "Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations including developmental delay, acquired microcephaly, myopia, pigmentary retinopathy, joint hypermobility, truncal obesity, friendly disposition and intermittent neutropenia. In young patients, diagnosis is difficult, because several of the characteristic features may not be present until school age or later years and the intermittent neutropenia is not always detectable.This was a prospective study using whole exome sequencing in syndromic retinal dystrophy. It was undertaken in a hospital and research institute setting.Participants in this study were members of a consanguineous Australian family of Lebanese ethnicity with two siblings with retinal dystrophy, microcephaly and developmental delay.Detailed clinical evaluation was undertaken. Whole exome capture and sequencing of patient genomic DNA samples was followed by sequence alignment, variant detection, comparison and prioritization.Pathogenic variant identification in the disease-causing gene in affected individuals.We identified a novel homozygous deletion leading to a frameshift mutation in VPS13B, c.11327del, p.(Asn3776Thrfs*102), the disease gene associated with Cohen syndrome.This report emphasizes the value of a broad-based whole exome sequencing approach in disease gene identification in the syndromic retinal dystrophies, where all disease characteristics may not be present in young patients to allow a clinical diagnosis. This facilitates improved prognostic and genetic information for patients and families." @default.
• W1558789045 created "2016-06-24" @default.
• W1558789045 creator A5000175685 @default.
• W1558789045 creator A5007586741 @default.
• W1558789045 creator A5014691736 @default.
• W1558789045 creator A5016128313 @default.
• W1558789045 creator A5019527126 @default.
• W1558789045 creator A5028589807 @default.
• W1558789045 creator A5033206695 @default.
• W1558789045 creator A5056036725 @default.
• W1558789045 creator A5058430815 @default.
• W1558789045 creator A5064794511 @default.
• W1558789045 creator A5078753985 @default.
• W1558789045 creator A5080127276 @default.
• W1558789045 creator A5088244425 @default.
• W1558789045 creator A5090700662 @default.
• W1558789045 date "2014-10-02" @default.
• W1558789045 modified "2023-10-15" @default.
• W1558789045 title "Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients" @default.
• W1558789045 cites W1973284660 @default.
• W1558789045 cites W1973765239 @default.
• W1558789045 cites W1984068087 @default.
• W1558789045 cites W1984291892 @default.
• W1558789045 cites W1991260690 @default.
• W1558789045 cites W2004258901 @default.
• W1558789045 cites W2017617374 @default.
• W1558789045 cites W2018620338 @default.
• W1558789045 cites W2048478242 @default.
• W1558789045 cites W2062625770 @default.
• W1558789045 cites W2088768513 @default.
• W1558789045 cites W2097341408 @default.
• W1558789045 cites W2103441770 @default.
• W1558789045 cites W2106578986 @default.
• W1558789045 cites W2119517913 @default.
• W1558789045 cites W2120887277 @default.
• W1558789045 cites W2124708335 @default.
• W1558789045 cites W2124960286 @default.
• W1558789045 cites W2147943584 @default.
• W1558789045 cites W2153384396 @default.
• W1558789045 cites W2156045789 @default.
• W1558789045 cites W2168133698 @default.
• W1558789045 doi "https://doi.org/10.1111/ceo.12391" @default.
• W1558789045 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25060287" @default.
• W1558789045 hasPublicationYear "2014" @default.
• W1558789045 type Work @default.
• W1558789045 sameAs 1558789045 @default.
• W1558789045 citedByCount "7" @default.
• W1558789045 countsByYear W15587890452015 @default.
• W1558789045 countsByYear W15587890452017 @default.
• W1558789045 countsByYear W15587890452018 @default.
• W1558789045 countsByYear W15587890452019 @default.
• W1558789045 countsByYear W15587890452022 @default.
• W1558789045 crossrefType "journal-article" @default.
• W1558789045 hasAuthorship W1558789045A5000175685 @default.
• W1558789045 hasAuthorship W1558789045A5007586741 @default.
• W1558789045 hasAuthorship W1558789045A5014691736 @default.
• W1558789045 hasAuthorship W1558789045A5016128313 @default.
• W1558789045 hasAuthorship W1558789045A5019527126 @default.
• W1558789045 hasAuthorship W1558789045A5028589807 @default.
• W1558789045 hasAuthorship W1558789045A5033206695 @default.
• W1558789045 hasAuthorship W1558789045A5056036725 @default.
• W1558789045 hasAuthorship W1558789045A5058430815 @default.
• W1558789045 hasAuthorship W1558789045A5064794511 @default.
• W1558789045 hasAuthorship W1558789045A5078753985 @default.
• W1558789045 hasAuthorship W1558789045A5080127276 @default.
• W1558789045 hasAuthorship W1558789045A5088244425 @default.
• W1558789045 hasAuthorship W1558789045A5090700662 @default.
• W1558789045 hasBestOaLocation W15587890451 @default.
• W1558789045 hasConcept C104317684 @default.
• W1558789045 hasConcept C10590036 @default.
• W1558789045 hasConcept C142724271 @default.
• W1558789045 hasConcept C16671776 @default.
• W1558789045 hasConcept C187212893 @default.
• W1558789045 hasConcept C2776395126 @default.
• W1558789045 hasConcept C2779134260 @default.
• W1558789045 hasConcept C501734568 @default.
• W1558789045 hasConcept C54355233 @default.
• W1558789045 hasConcept C60644358 @default.
• W1558789045 hasConcept C71924100 @default.
• W1558789045 hasConcept C86803240 @default.
• W1558789045 hasConceptScore W1558789045C104317684 @default.
• W1558789045 hasConceptScore W1558789045C10590036 @default.
• W1558789045 hasConceptScore W1558789045C142724271 @default.
• W1558789045 hasConceptScore W1558789045C16671776 @default.
• W1558789045 hasConceptScore W1558789045C187212893 @default.
• W1558789045 hasConceptScore W1558789045C2776395126 @default.
• W1558789045 hasConceptScore W1558789045C2779134260 @default.
• W1558789045 hasConceptScore W1558789045C501734568 @default.
• W1558789045 hasConceptScore W1558789045C54355233 @default.
• W1558789045 hasConceptScore W1558789045C60644358 @default.
• W1558789045 hasConceptScore W1558789045C71924100 @default.
• W1558789045 hasConceptScore W1558789045C86803240 @default.
• W1558789045 hasFunder F4320320498 @default.
• W1558789045 hasIssue "2" @default.
• W1558789045 hasLocation W15587890451 @default.
• W1558789045 hasLocation W15587890452 @default.
• W1558789045 hasOpenAccess W1558789045 @default.
• W1558789045 hasPrimaryLocation W15587890451 @default.

• next