Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017356235> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2017356235 endingPage "231" @default.
- W2017356235 startingPage "226" @default.
- W2017356235 abstract "The objective of the study was to investigate childhood hearing impairment in a population-based sample from a genetic perspective. Participants included 82 families with hearing-impaired children (aged 4-13) previously ascertained in the Trent Health Region. A questionnaire was mailed to all families, followed by a home visit and Connexin-26 35delG mutation screen. The Connexin-26 35delG mutation was identified in seven families (approximately 10 per cent of non-syndromal hearing impairment). Children of these families were significantly more likely than children with other modes of inheritance to have a profound hearing loss with a flat audiogram profile. The families of children with a significant admission to a neonatal intensive care unit were significantly less likely to have had genetic counselling. Eight families visited were found to have features suggestive of a genetic syndrome that had not been previously assigned a specific diagnosis. The study concluded that hearing-impaired children should be investigated systematically according to an agreed-upon protocol, which should include Connexin-26 35delG mutation analysis at least for those with severe-to-profound hearing loss." @default.
- W2017356235 created "2016-06-24" @default.
- W2017356235 creator A5002189233 @default.
- W2017356235 creator A5002999442 @default.
- W2017356235 creator A5003671271 @default.
- W2017356235 creator A5069971095 @default.
- W2017356235 creator A5072691740 @default.
- W2017356235 date "2000-01-01" @default.
- W2017356235 modified "2023-09-25" @default.
- W2017356235 title "Population-Based Genetic Study of Childhood Hearing Impairment in the Trent Region of the United Kingdom: Estudio Genetico Sobre Sordera Infantil en una Poblacion de la Region de Trent en el Reino Unido" @default.
- W2017356235 cites W2009581629 @default.
- W2017356235 cites W2019304102 @default.
- W2017356235 cites W2021647658 @default.
- W2017356235 cites W2023258723 @default.
- W2017356235 cites W2028758717 @default.
- W2017356235 cites W2096009599 @default.
- W2017356235 cites W2100095605 @default.
- W2017356235 cites W2114929889 @default.
- W2017356235 cites W2120948018 @default.
- W2017356235 cites W2158585306 @default.
- W2017356235 cites W4236871303 @default.
- W2017356235 doi "https://doi.org/10.3109/00206090009073083" @default.
- W2017356235 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10963445" @default.
- W2017356235 hasPublicationYear "2000" @default.
- W2017356235 type Work @default.
- W2017356235 sameAs 2017356235 @default.
- W2017356235 citedByCount "9" @default.
- W2017356235 countsByYear W20173562352014 @default.
- W2017356235 countsByYear W20173562352017 @default.
- W2017356235 countsByYear W20173562352022 @default.
- W2017356235 crossrefType "journal-article" @default.
- W2017356235 hasAuthorship W2017356235A5002189233 @default.
- W2017356235 hasAuthorship W2017356235A5002999442 @default.
- W2017356235 hasAuthorship W2017356235A5003671271 @default.
- W2017356235 hasAuthorship W2017356235A5069971095 @default.
- W2017356235 hasAuthorship W2017356235A5072691740 @default.
- W2017356235 hasConcept C17743292 @default.
- W2017356235 hasConcept C187212893 @default.
- W2017356235 hasConcept C2780493683 @default.
- W2017356235 hasConcept C2908647359 @default.
- W2017356235 hasConcept C54355233 @default.
- W2017356235 hasConcept C548259974 @default.
- W2017356235 hasConcept C71924100 @default.
- W2017356235 hasConcept C80227256 @default.
- W2017356235 hasConcept C86803240 @default.
- W2017356235 hasConcept C99454951 @default.
- W2017356235 hasConceptScore W2017356235C17743292 @default.
- W2017356235 hasConceptScore W2017356235C187212893 @default.
- W2017356235 hasConceptScore W2017356235C2780493683 @default.
- W2017356235 hasConceptScore W2017356235C2908647359 @default.
- W2017356235 hasConceptScore W2017356235C54355233 @default.
- W2017356235 hasConceptScore W2017356235C548259974 @default.
- W2017356235 hasConceptScore W2017356235C71924100 @default.
- W2017356235 hasConceptScore W2017356235C80227256 @default.
- W2017356235 hasConceptScore W2017356235C86803240 @default.
- W2017356235 hasConceptScore W2017356235C99454951 @default.
- W2017356235 hasIssue "4" @default.
- W2017356235 hasLocation W20173562351 @default.
- W2017356235 hasLocation W20173562352 @default.
- W2017356235 hasOpenAccess W2017356235 @default.
- W2017356235 hasPrimaryLocation W20173562351 @default.
- W2017356235 hasRelatedWork W177807439 @default.
- W2017356235 hasRelatedWork W2008105999 @default.
- W2017356235 hasRelatedWork W2196785486 @default.
- W2017356235 hasRelatedWork W2325523203 @default.
- W2017356235 hasRelatedWork W2337989314 @default.
- W2017356235 hasRelatedWork W2386798813 @default.
- W2017356235 hasRelatedWork W2398281293 @default.
- W2017356235 hasRelatedWork W2425084757 @default.
- W2017356235 hasRelatedWork W4220880247 @default.
- W2017356235 hasRelatedWork W2795147521 @default.
- W2017356235 hasVolume "39" @default.
- W2017356235 isParatext "false" @default.
- W2017356235 isRetracted "false" @default.
- W2017356235 magId "2017356235" @default.
- W2017356235 workType "article" @default.