Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017260100> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2017260100 abstract "AbstractObjective: Hearing loss (HL) is the most common form of sensory impairment, affecting millions of individuals worldwide. Pre-lingual non-syndromic hearing loss is present in 1 in 700 children and in half of the cases the hearing impairment is caused by genetic factors. Methods: We analysed an Italian family with a bilateral sensorineural HL present in several family members and inherited in an autosomal dominant manner. To perform a linkage study, subjects were genotyped with high density SNP arrays. Parametric linkage analysis using Merlin detected a significant 40-Mb locus on chromosome 14. Since the COCH gene, already known to be involved in causing HL, was located within this interval, a mutational search was carried out. Result: A novel mutation (p.A487P) affecting a highly conserved residue located within the vWFA2 domain was detected and segregates with the disease. Conclusion: This is the first Italian case of HL due to mutations within the COCH gene and it is also the first one showing so..." @default.
- W2017260100 created "2016-06-24" @default.
- W2017260100 creator A5001260634 @default.
- W2017260100 creator A5016888981 @default.
- W2017260100 creator A5024759696 @default.
- W2017260100 creator A5044208104 @default.
- W2017260100 creator A5062282490 @default.
- W2017260100 creator A5086073551 @default.
- W2017260100 date "2010-11-18" @default.
- W2017260100 modified "2023-09-24" @default.
- W2017260100 title "A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family" @default.
- W2017260100 cites W1550285268 @default.
- W2017260100 cites W1999640231 @default.
- W2017260100 cites W2009581629 @default.
- W2017260100 cites W2054571837 @default.
- W2017260100 cites W2072038834 @default.
- W2017260100 cites W2073005680 @default.
- W2017260100 cites W2081453306 @default.
- W2017260100 cites W2105306382 @default.
- W2017260100 cites W2181306993 @default.
- W2017260100 doi "https://doi.org/10.3109/1651386x.2010.538523" @default.
- W2017260100 hasPublicationYear "2010" @default.
- W2017260100 type Work @default.
- W2017260100 sameAs 2017260100 @default.
- W2017260100 citedByCount "3" @default.
- W2017260100 countsByYear W20172601002014 @default.
- W2017260100 countsByYear W20172601002020 @default.
- W2017260100 countsByYear W20172601002022 @default.
- W2017260100 crossrefType "journal-article" @default.
- W2017260100 hasAuthorship W2017260100A5001260634 @default.
- W2017260100 hasAuthorship W2017260100A5016888981 @default.
- W2017260100 hasAuthorship W2017260100A5024759696 @default.
- W2017260100 hasAuthorship W2017260100A5044208104 @default.
- W2017260100 hasAuthorship W2017260100A5062282490 @default.
- W2017260100 hasAuthorship W2017260100A5086073551 @default.
- W2017260100 hasConcept C104317684 @default.
- W2017260100 hasConcept C135763542 @default.
- W2017260100 hasConcept C139275648 @default.
- W2017260100 hasConcept C142870003 @default.
- W2017260100 hasConcept C153209595 @default.
- W2017260100 hasConcept C2780493683 @default.
- W2017260100 hasConcept C2780607864 @default.
- W2017260100 hasConcept C501734568 @default.
- W2017260100 hasConcept C54355233 @default.
- W2017260100 hasConcept C548259974 @default.
- W2017260100 hasConcept C71924100 @default.
- W2017260100 hasConcept C84597430 @default.
- W2017260100 hasConcept C86803240 @default.
- W2017260100 hasConceptScore W2017260100C104317684 @default.
- W2017260100 hasConceptScore W2017260100C135763542 @default.
- W2017260100 hasConceptScore W2017260100C139275648 @default.
- W2017260100 hasConceptScore W2017260100C142870003 @default.
- W2017260100 hasConceptScore W2017260100C153209595 @default.
- W2017260100 hasConceptScore W2017260100C2780493683 @default.
- W2017260100 hasConceptScore W2017260100C2780607864 @default.
- W2017260100 hasConceptScore W2017260100C501734568 @default.
- W2017260100 hasConceptScore W2017260100C54355233 @default.
- W2017260100 hasConceptScore W2017260100C548259974 @default.
- W2017260100 hasConceptScore W2017260100C71924100 @default.
- W2017260100 hasConceptScore W2017260100C84597430 @default.
- W2017260100 hasConceptScore W2017260100C86803240 @default.
- W2017260100 hasLocation W20172601001 @default.
- W2017260100 hasOpenAccess W2017260100 @default.
- W2017260100 hasPrimaryLocation W20172601001 @default.
- W2017260100 hasRelatedWork W1550684847 @default.
- W2017260100 hasRelatedWork W1605720660 @default.
- W2017260100 hasRelatedWork W1981153350 @default.
- W2017260100 hasRelatedWork W2023591445 @default.
- W2017260100 hasRelatedWork W2029340310 @default.
- W2017260100 hasRelatedWork W2037671807 @default.
- W2017260100 hasRelatedWork W2050279717 @default.
- W2017260100 hasRelatedWork W2051169915 @default.
- W2017260100 hasRelatedWork W2061515825 @default.
- W2017260100 hasRelatedWork W2063453347 @default.
- W2017260100 hasRelatedWork W2113114861 @default.
- W2017260100 hasRelatedWork W2120143579 @default.
- W2017260100 hasRelatedWork W2125200035 @default.
- W2017260100 hasRelatedWork W2164969010 @default.
- W2017260100 hasRelatedWork W2236061912 @default.
- W2017260100 hasRelatedWork W2290129949 @default.
- W2017260100 hasRelatedWork W2566775325 @default.
- W2017260100 hasRelatedWork W2572913447 @default.
- W2017260100 hasRelatedWork W2886321473 @default.
- W2017260100 hasRelatedWork W3158906528 @default.
- W2017260100 isParatext "false" @default.
- W2017260100 isRetracted "false" @default.
- W2017260100 magId "2017260100" @default.
- W2017260100 workType "article" @default.