FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2139729438> ?p ?o ?g. }

• W2139729438 endingPage "6" @default.
• W2139729438 startingPage "1" @default.
• W2139729438 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion. In the unusual infantile-onset form of this degenerative disease, sensorineural hearing loss is a frequent clinical manifestation, whereas in patients with typical late-onset FSHD, investigations regarding hearing impairment yielded controversial results. We describe the findings of a multicenter investigation on possible auditory impairment in a series of 73 FSHD patients with a genetically confirmed diagnosis. Among them, 49 cases with no risk factors for deafness, aside from the disease, were identified by a clinical questionnaire and otoscopic examination (mean age 37.8 years, 31 males and 18 females). These subjects were evaluated by pure-tone audiometry. None were aware of hearing loss, while 4 had raised unilateral or bilateral pure-tone audiometric thresholds at 4000 and 8000 Hz, when evaluated by standardized tables. However, the mean raw pure-tone audiometric threshold values for these 49 cases were not significantly different from those of 55 controls (mean age 37.1 years, 32 males and 23 females). Moreover, by statistical analysis, age of onset, degree of muscular weakness and 4q35 <i>Eco</i>RI fragment size made no significant difference to auditory thresholds in our FSHD patients. Overall, the results of our multicenter study suggest that hearing loss in typical FSHD is not more prevalent than in the normal population." @default.
• W2139729438 created "2016-06-24" @default.
• W2139729438 creator A5006523160 @default.
• W2139729438 creator A5019132993 @default.
• W2139729438 creator A5024987917 @default.
• W2139729438 creator A5025252739 @default.
• W2139729438 creator A5034751093 @default.
• W2139729438 creator A5038635434 @default.
• W2139729438 creator A5043387799 @default.
• W2139729438 creator A5047678826 @default.
• W2139729438 creator A5049757983 @default.
• W2139729438 creator A5051568799 @default.
• W2139729438 creator A5057612534 @default.
• W2139729438 creator A5081746195 @default.
• W2139729438 date "2007-08-22" @default.
• W2139729438 modified "2023-09-27" @default.
• W2139729438 title "Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function" @default.
• W2139729438 cites W1964930281 @default.
• W2139729438 cites W1965824542 @default.
• W2139729438 cites W1968808136 @default.
• W2139729438 cites W1999113624 @default.
• W2139729438 cites W2004474116 @default.
• W2139729438 cites W2014592029 @default.
• W2139729438 cites W2030469332 @default.
• W2139729438 cites W2038183139 @default.
• W2139729438 cites W2043023105 @default.
• W2139729438 cites W2049045918 @default.
• W2139729438 cites W2053781072 @default.
• W2139729438 cites W2058511187 @default.
• W2139729438 cites W2073334751 @default.
• W2139729438 cites W2078864765 @default.
• W2139729438 cites W2082127114 @default.
• W2139729438 cites W2086775164 @default.
• W2139729438 cites W2092522823 @default.
• W2139729438 cites W2097758374 @default.
• W2139729438 cites W2110852424 @default.
• W2139729438 cites W2111994994 @default.
• W2139729438 cites W2163868680 @default.
• W2139729438 cites W2273826688 @default.
• W2139729438 cites W2312705379 @default.
• W2139729438 cites W95622561 @default.
• W2139729438 doi "https://doi.org/10.1159/000107431" @default.
• W2139729438 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17715463" @default.
• W2139729438 hasPublicationYear "2007" @default.
• W2139729438 type Work @default.
• W2139729438 sameAs 2139729438 @default.
• W2139729438 citedByCount "42" @default.
• W2139729438 countsByYear W21397294382012 @default.
• W2139729438 countsByYear W21397294382013 @default.
• W2139729438 countsByYear W21397294382014 @default.
• W2139729438 countsByYear W21397294382015 @default.
• W2139729438 countsByYear W21397294382017 @default.
• W2139729438 countsByYear W21397294382018 @default.
• W2139729438 countsByYear W21397294382019 @default.
• W2139729438 countsByYear W21397294382020 @default.
• W2139729438 countsByYear W21397294382021 @default.
• W2139729438 countsByYear W21397294382022 @default.
• W2139729438 crossrefType "journal-article" @default.
• W2139729438 hasAuthorship W2139729438A5006523160 @default.
• W2139729438 hasAuthorship W2139729438A5019132993 @default.
• W2139729438 hasAuthorship W2139729438A5024987917 @default.
• W2139729438 hasAuthorship W2139729438A5025252739 @default.
• W2139729438 hasAuthorship W2139729438A5034751093 @default.
• W2139729438 hasAuthorship W2139729438A5038635434 @default.
• W2139729438 hasAuthorship W2139729438A5043387799 @default.
• W2139729438 hasAuthorship W2139729438A5047678826 @default.
• W2139729438 hasAuthorship W2139729438A5049757983 @default.
• W2139729438 hasAuthorship W2139729438A5051568799 @default.
• W2139729438 hasAuthorship W2139729438A5057612534 @default.
• W2139729438 hasAuthorship W2139729438A5081746195 @default.
• W2139729438 hasConcept C126322002 @default.
• W2139729438 hasConcept C141071460 @default.
• W2139729438 hasConcept C187212893 @default.
• W2139729438 hasConcept C2779030066 @default.
• W2139729438 hasConcept C2779981540 @default.
• W2139729438 hasConcept C2780247198 @default.
• W2139729438 hasConcept C2780493683 @default.
• W2139729438 hasConcept C2780554537 @default.
• W2139729438 hasConcept C2780607864 @default.
• W2139729438 hasConcept C2908647359 @default.
• W2139729438 hasConcept C548259974 @default.
• W2139729438 hasConcept C71924100 @default.
• W2139729438 hasConcept C99454951 @default.
• W2139729438 hasConceptScore W2139729438C126322002 @default.
• W2139729438 hasConceptScore W2139729438C141071460 @default.
• W2139729438 hasConceptScore W2139729438C187212893 @default.
• W2139729438 hasConceptScore W2139729438C2779030066 @default.
• W2139729438 hasConceptScore W2139729438C2779981540 @default.
• W2139729438 hasConceptScore W2139729438C2780247198 @default.
• W2139729438 hasConceptScore W2139729438C2780493683 @default.
• W2139729438 hasConceptScore W2139729438C2780554537 @default.
• W2139729438 hasConceptScore W2139729438C2780607864 @default.
• W2139729438 hasConceptScore W2139729438C2908647359 @default.
• W2139729438 hasConceptScore W2139729438C548259974 @default.
• W2139729438 hasConceptScore W2139729438C71924100 @default.
• W2139729438 hasConceptScore W2139729438C99454951 @default.
• W2139729438 hasIssue "1" @default.
• W2139729438 hasLocation W21397294381 @default.

• next