Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece

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dc.contributor.authorIliadou, V.en
dc.contributor.authorEleftheriades, N.en
dc.contributor.authorMetaxas, A. S.en
dc.contributor.authorSkevas, A.en
dc.contributor.authorKiratzidis, T.en
dc.contributor.authorPampanos, A.en
dc.contributor.authorVoyiatzis, N.en
dc.contributor.authorGrigoriadou, M.en
dc.contributor.authorPetersen, M. B.en
dc.contributor.authorIliades, T.en
dc.date.accessioned2015-11-24T19:34:01Z
dc.date.available2015-11-24T19:34:01Z
dc.identifier.issn0937-4477-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/23588
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAudiometry, Pure-Toneen
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subjectCohort Studiesen
dc.subjectConnexins/*geneticsen
dc.subjectDNA Mutational Analysisen
dc.subjectFemaleen
dc.subject*Genetic Predisposition to Diseaseen
dc.subjectGreece/epidemiologyen
dc.subjectHearing Loss, Sensorineural/congenital/epidemiology/*geneticsen
dc.subjectHumansen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectMaleen
dc.subject*Mutationen
dc.subjectPrevalenceen
dc.subjectRisk Assessmenten
dc.subjectSeverity of Illness Indexen
dc.titleAudiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greeceen
heal.abstractThe present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most frequent single cause of childhood sensorineural hearing loss. The 35delG mutation in homozygosity was detected in 27 of 107 patients (25.2%). The audiological profile is that of a profound or severe sensorineural hearing loss, with a sloping or flat configuration of the audiogram, mostly symmetrical, non-progressive and affecting more the higher frequencies. This profile underlines the importance of early identification and genetic family counseling leading to the future possibility of prevention of deafness.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1007/s00405-003-0679-7-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/15138772-
heal.identifier.secondaryhttp://www.springerlink.com/content/ma0rqvumkledx5k2/fulltext.pdf-
heal.journalNameEur Arch Otorhinolaryngolen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2004-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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