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GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis
Názov GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis Autor Minárik G. Spoluautori Feráková E. Ficek Andrej SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Poláková Helena SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Zdroj.dok. Clinical genetics : An International Journal of Genetics and Molecular Medicine. Vol. 68, no. 6(2005), p. 554-557 Jazyk dok. eng - angličtina Krajina GB - Veľká Británia Druh dok. rozpis článkov z periodík (rbx) Ohlasy PETERSEN, MB - WILLEMS, PJ. Non-syndromic, autosomal-recessive deafness. In CLINICAL GENETICS. ISSN 0009-9163, 2006, vol. 69, no. 5, pp. 371-392. ABIDI, Omar - BOULOUIZ, Redouane - NAHILI, Halima - RIDAL, Mohammed - ALAMI, Mohamed Noureddine - TLILI, Abdelaziz - ROUBA, Hassan - MASMOUDI, Saber - CHAFIK, Abdelaziz - HASSAR, Mohammed - BARAKAT, Abdelhamid. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2007, vol. 71, no. 8, pp. 1239-1245. YILMAZ, Akin - MENEVSE, Sevda - BAYAZIT, Yildirim - KARAMERT, Recep - ERGIN, Volkan - MENEVSE, Adnan. Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss. In BIOCHEMICAL GENETICS. ISSN 0006-2928, 2010, vol. 48, no. 3-4, pp. 248-256. BOZHKOVA, V. P. - KHASHAEV, Z. H. - UMANSKAYA, T. M. Frequence and the mutation spectrum of GJB2-related hearing loss in children of Dagestan as compared with the central European part of Russia. In Biophysics. ISSN 00063509, 2010-10-11, 55, 3, pp. 453-462. DAVARNIA, Behzad - BABANEJAD, Mojgan - FATTAHI, Zohreh - NIKZAT, Nooshin - BAZAZZADEGAN, Niloofar - PIRZADE, Akbar - FARAJOLLAHI, Reza - NISHIMURA, Carla - JALALVAND, Khadijeh - ARZHANGI, Sanaz - KAHRIZI, Kimia - SMITH, Richard J. H. - NAJMABADI, Hossein. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2012, vol. 76, no. 2, pp. 268-271. CHAN, Dylan K. - CHANG, Kay W. GJB2-Associated Hearing Loss: Systematic Review of Worldwide Prevalence, Genotype, and Auditory Phenotype. In LARYNGOSCOPE. ISSN 0023-852X, 2014, vol. 124, no. 2, pp. E34-E53. GRILLO, Ana Paula - DE OLIVEIRA, Flavia Marcorin - DE CARVALHO, Gabriela Queila - VIEIRA MEDRANO, Ruan Felipe - DA SILVA-COSTA, Sueli Matilde - SARTORATO, Edi Lucia - DE OLIVEIRA, Camila Andrea. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. In BIOMED RESEARCH INTERNATIONAL. ISSN 2314-6133, 2015, vol., no., pp. BAHRAMI, T. - JALILIAN, N. - KARBASI, G. - NOORI-DALOII, M. R. Specific distribution of GJB2 mutations in Kurdistan Province of Iran; report of a relatively isolated population. In Journal of Sciences, Islamic Republic of Iran. ISSN 10161104, 2017-12-01, 28, 1, pp. 5-11. SHAIKH, Hina - WARYAH, Ali M. - NARSANI, Ashok K. - IQBAL, Muhammad - SHAHZAD, Mohsin - WARYAH, Yar M. - SHAIKH, Naila - MAHMOOD, Amber. Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling. In BIOCHEMICAL GENETICS. ISSN 0006-2928, 2017, vol. 55, no. 5-6, pp. 410-420. PLEVOVA, Pavlina - TVRDA, Petra - PAPRSKAROVA, Martina - TURSKA, Petra - KANTOROVA, Barbara - MRAZKOVA, Eva - ZAPLETALOVA, Jana. Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. In MEDICINA-LITHUANIA. ISSN 1010-660X, 2018, vol. 54, no. 2, pp. AZADEGAN-DEHKORDI, Fatemeh - AHMADI, Reza - KOOHIYAN, Mahbobeh - HASHEMZADEH-CHALESHTORI, Morteza. Update of spectrum c.35delG and c.-23+1G > A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. In ANNALS OF HUMAN GENETICS. ISSN 0003-4800, 2019, vol. 83, no. 1, pp. 1-10. MOSTAFA, Badr Eldin - EL SAWI, Mohammed Abdel - SABRY, Sabry Magdi - HASSAN, Dalia Mohammed - REZK SHAFIK, Michael. Genetic Screening for 35delG Mutation in Egyptian Patients with Profound Sensorineural Hearing Loss Scheduled for Cochlear Implantation: A Population-Based Study. In ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY HEAD AND NECK SURGERY. ISSN 0301-1569, 2021, vol. 83, no. 3, pp. 181-186. Dostupné na: https://doi.org/10.1159/000513752. RODBANEH, Ehsan Abbaspour - PANAHI, Mohammad - RAHIMI, Bahareh - MOKABBER, Haleh - FARAJOLLAHI, Reza - DAVARNIA, Behzad. GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 CA mutation in Iran. In JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2021, vol. 35, no. 11, pp. ISSN 0887-8013. Dostupné na: https://doi.org/10.1002/jcla.24024. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2005 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1111/j.1399-0004.2005.00529.x 
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Počet záznamov: 1