FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2077732823> ?p ?o ?g. }

• W2077732823 endingPage "382" @default.
• W2077732823 startingPage "375" @default.
• W2077732823 abstract "We report on 335 patients (319 families) with mild-to-profound nonsyndromic sensorineural hearing loss. We identified 178 mutated <i>GJB2</i> alleles representing 29 different sequence changes (including 3 novel mutations: Q7P, N14D, H100Q), and 2 alleles with the deletion del(GJB6-D13S1830) of the <i>GJB6</i> gene. Eleven <i>GJB2</i> mutations (119 mutated alleles) were truncating (T), and 18 mutations (59 alleles) were nontruncating (NT). Biallelic <i>GJB2</i> mutations were found in 71 patients (21.2%; 67 families; 25 different genotypes). Audiograms of 62 patients (56 families) with biallelic <i>GJB2</i> mutations typically indicated a profound hearing loss with T/T mutations, moderate hearing loss with T/NT mutations, and mild hearing impairment with NT/NT mutations (p < 0.01, Student’s t test). From 37 patients (34 families) with biallelic <i>GJB2</i> mutations, audiograms at different ages were available and indicated progressive hearing loss (>15 dB) in 10 patients (27.0%, 10 families). Interestingly, we identified an unexpectedly large subset of patients (n = 29; 8.7%) presenting with only one <i>GJB2</i> mutation (n = 14 T/wild-type; n = 15 NT/wild-type). This strongly suggests the presence of additional recessive mutations that are not detected by current <i>GJB2</i> mutation and <i>GJB6 </i>deletion analyses." @default.
• W2077732823 created "2016-06-24" @default.
• W2077732823 creator A5000878334 @default.
• W2077732823 creator A5010782061 @default.
• W2077732823 creator A5013420026 @default.
• W2077732823 creator A5017474493 @default.
• W2077732823 creator A5027724306 @default.
• W2077732823 creator A5036724454 @default.
• W2077732823 creator A5053856218 @default.
• W2077732823 creator A5072160845 @default.
• W2077732823 creator A5081237022 @default.
• W2077732823 date "2010-01-01" @default.
• W2077732823 modified "2023-10-18" @default.
• W2077732823 title "<i>GJB2</i> Mutations and Genotype-Phenotype Correlation in 335 Patients from Germany with Nonsyndromic Sensorineural Hearing Loss: Evidence for Additional Recessive Mutations Not Detected by Current Methods" @default.
• W2077732823 cites W151092247 @default.
• W2077732823 cites W1557196716 @default.
• W2077732823 cites W1975194979 @default.
• W2077732823 cites W1983094499 @default.
• W2077732823 cites W1987450507 @default.
• W2077732823 cites W2008110609 @default.
• W2077732823 cites W2011355532 @default.
• W2077732823 cites W2012189889 @default.
• W2077732823 cites W2020849158 @default.
• W2077732823 cites W2023056161 @default.
• W2077732823 cites W2025886249 @default.
• W2077732823 cites W2026170277 @default.
• W2077732823 cites W2049830782 @default.
• W2077732823 cites W2062902234 @default.
• W2077732823 cites W2078566494 @default.
• W2077732823 cites W2100095605 @default.
• W2077732823 cites W2101850740 @default.
• W2077732823 cites W2107205833 @default.
• W2077732823 cites W2119744081 @default.
• W2077732823 cites W2134083748 @default.
• W2077732823 cites W2161598996 @default.
• W2077732823 cites W2163451904 @default.
• W2077732823 doi "https://doi.org/10.1159/000297216" @default.
• W2077732823 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20234132" @default.
• W2077732823 hasPublicationYear "2010" @default.
• W2077732823 type Work @default.
• W2077732823 sameAs 2077732823 @default.
• W2077732823 citedByCount "21" @default.
• W2077732823 countsByYear W20777328232012 @default.
• W2077732823 countsByYear W20777328232013 @default.
• W2077732823 countsByYear W20777328232014 @default.
• W2077732823 countsByYear W20777328232015 @default.
• W2077732823 countsByYear W20777328232017 @default.
• W2077732823 countsByYear W20777328232019 @default.
• W2077732823 countsByYear W20777328232020 @default.
• W2077732823 countsByYear W20777328232021 @default.
• W2077732823 countsByYear W20777328232022 @default.
• W2077732823 crossrefType "journal-article" @default.
• W2077732823 hasAuthorship W2077732823A5000878334 @default.
• W2077732823 hasAuthorship W2077732823A5010782061 @default.
• W2077732823 hasAuthorship W2077732823A5013420026 @default.
• W2077732823 hasAuthorship W2077732823A5017474493 @default.
• W2077732823 hasAuthorship W2077732823A5027724306 @default.
• W2077732823 hasAuthorship W2077732823A5036724454 @default.
• W2077732823 hasAuthorship W2077732823A5053856218 @default.
• W2077732823 hasAuthorship W2077732823A5072160845 @default.
• W2077732823 hasAuthorship W2077732823A5081237022 @default.
• W2077732823 hasConcept C104317684 @default.
• W2077732823 hasConcept C135763542 @default.
• W2077732823 hasConcept C17743292 @default.
• W2077732823 hasConcept C180754005 @default.
• W2077732823 hasConcept C2780493683 @default.
• W2077732823 hasConcept C2780607864 @default.
• W2077732823 hasConcept C501734568 @default.
• W2077732823 hasConcept C54355233 @default.
• W2077732823 hasConcept C548259974 @default.
• W2077732823 hasConcept C71924100 @default.
• W2077732823 hasConcept C86803240 @default.
• W2077732823 hasConceptScore W2077732823C104317684 @default.
• W2077732823 hasConceptScore W2077732823C135763542 @default.
• W2077732823 hasConceptScore W2077732823C17743292 @default.
• W2077732823 hasConceptScore W2077732823C180754005 @default.
• W2077732823 hasConceptScore W2077732823C2780493683 @default.
• W2077732823 hasConceptScore W2077732823C2780607864 @default.
• W2077732823 hasConceptScore W2077732823C501734568 @default.
• W2077732823 hasConceptScore W2077732823C54355233 @default.
• W2077732823 hasConceptScore W2077732823C548259974 @default.
• W2077732823 hasConceptScore W2077732823C71924100 @default.
• W2077732823 hasConceptScore W2077732823C86803240 @default.
• W2077732823 hasIssue "6" @default.
• W2077732823 hasLocation W20777328231 @default.
• W2077732823 hasLocation W20777328232 @default.
• W2077732823 hasOpenAccess W2077732823 @default.
• W2077732823 hasPrimaryLocation W20777328231 @default.
• W2077732823 hasRelatedWork W2037671807 @default.
• W2077732823 hasRelatedWork W2041227313 @default.
• W2077732823 hasRelatedWork W2057739827 @default.
• W2077732823 hasRelatedWork W2071585711 @default.
• W2077732823 hasRelatedWork W2222546058 @default.
• W2077732823 hasRelatedWork W2223919059 @default.
• W2077732823 hasRelatedWork W2330819912 @default.
• W2077732823 hasRelatedWork W2372403086 @default.
• W2077732823 hasRelatedWork W2746348515 @default.
• W2077732823 hasRelatedWork W2891692870 @default.

• next