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  3. Σχολή Επιστημών Υγείας
  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/19133
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dc.contributor.authorIliades, T.en
dc.contributor.authorEleftheriades, N.en
dc.contributor.authorIliadou, V.en
dc.contributor.authorPampanos, A.en
dc.contributor.authorVoyiatzis, N.en
dc.contributor.authorEconomides, J.en
dc.contributor.authorLeotsakos, P.en
dc.contributor.authorNeou, P.en
dc.contributor.authorTsakanikos, M.en
dc.contributor.authorAntoniadi, T.en
dc.contributor.authorKonstantopoulou, I.en
dc.contributor.authorYannoukakos, D.en
dc.contributor.authorGrigoriadou, M.en
dc.contributor.authorSkevas, A.en
dc.contributor.authorPetersen, M. B.en
dc.date.accessioned2015-11-24T18:57:06Z-
dc.date.available2015-11-24T18:57:06Z-
dc.identifier.issn0301-1569-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19133-
dc.rightsDefault Licence-
dc.subjectAudiometry, Pure-Toneen
dc.subjectConnexins/*geneticsen
dc.subjectDNA Mutational Analysisen
dc.subjectFemaleen
dc.subjectGenetic Testingen
dc.subjectGenotypeen
dc.subjectGreece/epidemiologyen
dc.subjectHearing Loss, Sensorineural/*epidemiology/*geneticsen
dc.subjectHumansen
dc.subjectMaleen
dc.subject*Mutationen
dc.subjectPolymerase Chain Reactionen
dc.subjectPopulation Surveillanceen
dc.subjectPrevalenceen
dc.subjectQuestionnairesen
dc.titlePrelingual nonsyndromic hearing loss in Greece. Molecular and clinical findingsen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/12417772-
heal.identifier.secondaryhttp://content.karger.com/ProdukteDB/produkte.asp?doi=10.1159/000066088-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2002-
heal.abstractMutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency of 3,5% in the Greek population. In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific PCR for the detection of the 35delG mutation. The 35delG mutation was found in 32.1% of the alleles in 173 unrelated cases of prelingual deafness: 50 homozygotes and 11 heterozygotes. Individuals heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene, which revealed R184P and 486insT mutations in single alleles. We conclude that the 35delG GJB2 mutation is responsible for one third of prelingual, sensorineural deafness in Greece, which is higher than the usually quoted 20% for Caucasian populations.en
heal.journalNameORL J Otorhinolaryngol Relat Specen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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