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  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/123456789/19102
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dc.contributor.authorPampanos, A.en
dc.contributor.authorEconomides, J.en
dc.contributor.authorIliadou, V.en
dc.contributor.authorNeou, P.en
dc.contributor.authorLeotsakos, P.en
dc.contributor.authorVoyiatzis, N.en
dc.contributor.authorEleftheriades, N.en
dc.contributor.authorTsakanikos, M.en
dc.contributor.authorAntoniadi, T.en
dc.contributor.authorHatzaki, A.en
dc.contributor.authorKonstantopoulou, I.en
dc.contributor.authorYannoukakos, D.en
dc.contributor.authorGronskov, K.en
dc.contributor.authorBrondum-Nielsen, K.en
dc.contributor.authorGrigoriadou, M.en
dc.contributor.authorGyftodimou, J.en
dc.contributor.authorIliades, T.en
dc.contributor.authorSkevas, A.en
dc.contributor.authorPetersen, M. B.en
dc.date.accessioned2015-11-24T18:56:51Z-
dc.date.available2015-11-24T18:56:51Z-
dc.identifier.issn0165-5876-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19102-
dc.rightsDefault Licence-
dc.subjectBase Sequenceen
dc.subjectChild, Preschoolen
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.subjectInfanten
dc.subjectMaleen
dc.subjectMolecular Sequence Dataen
dc.subject*Mutationen
dc.subjectPedigreeen
dc.subjectPolymerase Chain Reactionen
dc.subjectPopulation Surveillanceen
dc.subjectPrevalenceen
dc.titlePrevalence of GJB2 mutations in prelingual deafness in the Greek populationen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/12176179-
heal.identifier.secondaryhttp://ac.els-cdn.com/S0165587602001775/1-s2.0-S0165587602001775-main.pdf?_tid=474a436eee40e559653e9e411a1e211f&acdnat=1337339146_cd4b812d67990c3bc80bbafb8d933277-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2002-
heal.abstractOBJECTIVE: Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations. The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in prelingual deafness in the Greek population. METHODS: 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 polymerase chain reaction (PCR) for the detection of the 35delG mutation. Patients heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene. RESULTS: The 35delG mutation was found in 42.2% of the chromosomes in 45 familial cases of prelingual, nonsyndromic deafness (18 homozygotes and 2 heterozygotes) and in 30.6% of the chromosomes in 165 sporadic cases (45 homozygotes and 11 heterozygotes). Direct genomic sequencing in heterozygous patients revealed the L90P (2 alleles), W24X (2 alleles), R184P (2 alleles), and 291insA (1 allele) mutations. CONCLUSION: Mutations in the GJB2 gene are responsible for about one third of prelingual, sensorineural, nonsyndromic deafness in the Greek population, and allele-specific PCR is an easy screening method for the common 35delG mutation.en
heal.journalNameInt J Pediatr Otorhinolaryngolen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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