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Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
Kecskeméti, Nóra; Szönyi, Magdolna; Gáborján, Anita; Küstel, Marianna; Milley, György Máté; Süveges, Anna; Illés, Anett; Kékesi, Anna; Tamás, László; Molnár, Mária Judit; Szirmai, Ágnes; Gál, Anikó.
Afiliação
  • Kecskeméti N; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
  • Szönyi M; Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Szigony utca 36, Budapest, 1083, Hungary.
  • Gáborján A; Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Szigony utca 36, Budapest, 1083, Hungary.
  • Küstel M; Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Szigony utca 36, Budapest, 1083, Hungary.
  • Milley GM; Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Szigony utca 36, Budapest, 1083, Hungary.
  • Süveges A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
  • Illés A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
  • Kékesi A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
  • Tamás L; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
  • Molnár MJ; Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Szigony utca 36, Budapest, 1083, Hungary.
  • Szirmai Á; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
  • Gál A; Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Szigony utca 36, Budapest, 1083, Hungary.
Eur Arch Otorhinolaryngol ; 275(10): 2441-2448, 2018 Oct.
Article em En | MEDLINE | ID: mdl-30094485
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Conexinas / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur Arch Otorhinolaryngol Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Hungria
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Conexinas / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur Arch Otorhinolaryngol Assunto da revista: OTORRINOLARINGOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Hungria