Matches in SemOpenAlex for { <https://semopenalex.org/work/W2461048574> ?p ?o ?g. }
Showing items 1 to 64 of
64
with 100 items per page.
- W2461048574 endingPage "24" @default.
- W2461048574 startingPage "1919" @default.
- W2461048574 abstract "Hearing impairment, defined as > or = 40 dB hearing loss, is the most prevalent sensory handicap, present in 1:750 children and in 4-36% of adults, depending on age. Genetic factors are of major importance in more than 50% of all hearing loss. An important distinction is made between syndromic deafness and isolated deafness depending on the presence or not of associated manifestations from other organs. The knowledge about genetic deafness has increased dramatically in the last few years. As of March 1999, at least 53 loci for isolated deafness of different types of monogenic inheritance have been identified. Suspected genetic heterogeneity has thus been confirmed. At least 15 genes for syndromic deafness have been cloned, leading to increased biological insight in shared developmental pathways in different species and leading to better diagnostic tools applicable to patients. The identification of a particularly frequent mutation in a gap junction gene, GJB2 (connexin 26), may turn out to be of particular diagnostic importance in the aetiological evaluation of childhood deafness even in isolated cases. Application of early screening tests, like otoacoustic emission (OAE), in combination with genetic tests will facilitate early and specific diagnosis of hearing impairment and thereby improve audiological rehabilitation. Syndromic deafness involves all organs, and care for and evaluation of affected individuals should be a multiprofessional task." @default.
- W2461048574 created "2016-07-22" @default.
- W2461048574 creator A5010714367 @default.
- W2461048574 date "1999-05-20" @default.
- W2461048574 modified "2023-09-25" @default.
- W2461048574 title "[Genetic causes of hearing loss--status and perspectives]." @default.
- W2461048574 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10382342" @default.
- W2461048574 hasPublicationYear "1999" @default.
- W2461048574 type Work @default.
- W2461048574 sameAs 2461048574 @default.
- W2461048574 citedByCount "0" @default.
- W2461048574 crossrefType "journal-article" @default.
- W2461048574 hasAuthorship W2461048574A5010714367 @default.
- W2461048574 hasConcept C126322002 @default.
- W2461048574 hasConcept C137627325 @default.
- W2461048574 hasConcept C142724271 @default.
- W2461048574 hasConcept C158157758 @default.
- W2461048574 hasConcept C1862650 @default.
- W2461048574 hasConcept C2778818304 @default.
- W2461048574 hasConcept C2779647382 @default.
- W2461048574 hasConcept C2780228694 @default.
- W2461048574 hasConcept C2780493683 @default.
- W2461048574 hasConcept C2780673598 @default.
- W2461048574 hasConcept C54355233 @default.
- W2461048574 hasConcept C548259974 @default.
- W2461048574 hasConcept C71924100 @default.
- W2461048574 hasConcept C79879829 @default.
- W2461048574 hasConcept C86803240 @default.
- W2461048574 hasConceptScore W2461048574C126322002 @default.
- W2461048574 hasConceptScore W2461048574C137627325 @default.
- W2461048574 hasConceptScore W2461048574C142724271 @default.
- W2461048574 hasConceptScore W2461048574C158157758 @default.
- W2461048574 hasConceptScore W2461048574C1862650 @default.
- W2461048574 hasConceptScore W2461048574C2778818304 @default.
- W2461048574 hasConceptScore W2461048574C2779647382 @default.
- W2461048574 hasConceptScore W2461048574C2780228694 @default.
- W2461048574 hasConceptScore W2461048574C2780493683 @default.
- W2461048574 hasConceptScore W2461048574C2780673598 @default.
- W2461048574 hasConceptScore W2461048574C54355233 @default.
- W2461048574 hasConceptScore W2461048574C548259974 @default.
- W2461048574 hasConceptScore W2461048574C71924100 @default.
- W2461048574 hasConceptScore W2461048574C79879829 @default.
- W2461048574 hasConceptScore W2461048574C86803240 @default.
- W2461048574 hasIssue "13" @default.
- W2461048574 hasLocation W24610485741 @default.
- W2461048574 hasOpenAccess W2461048574 @default.
- W2461048574 hasPrimaryLocation W24610485741 @default.
- W2461048574 hasRelatedWork W2034531070 @default.
- W2461048574 hasRelatedWork W2056384238 @default.
- W2461048574 hasRelatedWork W2064054551 @default.
- W2461048574 hasRelatedWork W2414875423 @default.
- W2461048574 hasRelatedWork W2472730758 @default.
- W2461048574 hasRelatedWork W2888278443 @default.
- W2461048574 hasRelatedWork W2901470654 @default.
- W2461048574 hasRelatedWork W3175938933 @default.
- W2461048574 hasRelatedWork W3183333215 @default.
- W2461048574 hasRelatedWork W2956549872 @default.
- W2461048574 hasVolume "119" @default.
- W2461048574 isParatext "false" @default.
- W2461048574 isRetracted "false" @default.
- W2461048574 magId "2461048574" @default.
- W2461048574 workType "article" @default.