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High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
Názov High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL) Autor Minarik Gabriel Spoluautori Ferák Vladimír 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. General physiology and biophysics. Vol. 22, iss. 4 (2003), p. 549-556 Jazyk dok. eng - angličtina Krajina SK - Slovenská republika Druh dok. rozpis článkov z periodík (rbx) Ohlasy AISHAH, Z.S. - KHAIRI, M.D.M. - NORMASTURA, A.R. - ZAFARINA, Z. - ZILFALIL, B.A. Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography. In JOURNAL OF LARYNGOLOGY AND OTOLOGY. ISSN 0022-2151, DEC 2008, vol. 122, no. 12, p. 1284-1288. MAHDIEH, Nejat - MAHMOUDI, Hamdollah - AHMADZADEH, Soleiman - BAKHTIYARI, Salar. GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution. In EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. ISSN 0937-4477, 2016, vol. 273, no. 5, pp. 1161-1165. MIELCZAREK, Marzena - ZAKRZEWSKA, Anna - OLSZEWSKI, Jurek. Sekwencjonowanie genu GJB2 w populacji dzieci głuchych i z głȩbokim stopniem uszkodzenia odbiorczego słuchu. In Otolaryngologia Polska. ISSN 00306657, 2016-01-01, 70, 3, pp. 21-25. YAN, Denise - KANNAN-SUNDHARI, Abhiraami - VISHWANATH, Subramanian - QING, Jie - MITTAL, Rahul - KAMESWARAN, Mohan - LIU, Xue Zhong. The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. In GENETIC TESTING AND MOLECULAR BIOMARKERS. ISSN 1945-0265, 2015, vol. 19, no. 9, pp. 512. ADHIKARY, Bidisha - GHOSH, Sudakshina - PAUL, Silpita - BANKURA, Biswabandhu - PATTANAYAK, Arup Kumar - BISWAS, Subhradev - MAITY, Biswanath - DAS, Madhusudan. Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. In Gene. ISSN 03781119, 2015-12-01, 573, 2, pp. 239-245. MELO, Uirá S. - SANTOS, Silvana - CAVALCANTI, Hannalice G. - ANDRADE, Wagner T. - DANTAS, Vitor G. - ROSA, Marine R D - MINGRONI-NETTO, Regina C. Strategies for genetic study of hearing loss in the Brazilian northeastern region. In International Journal of Molecular Epidemiology and Genetics. ISSN 19481756, 2014-02-27, 5, 1, pp. 11-21. SIPEKY, Csilla - MATYAS, Petra - MELEGH, Marton - JANICSEK, Ingrid - SZALAI, Renata - SZABO, Istvan - VARNAI, Reka - TARLOS, Greta - GANCZER, Alma - MELEGH, Bela. Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention. In MOLECULAR BIOLOGY REPORTS. ISSN 0301-4851, 2014, vol. 41, no. 9, pp. 6105. SHAFIQUE, Sobia - SIDDIQI, Saima - SCHRADERS, Margit - OOSTRIK, Jaap - AYUB, Humaira - BILAL, Ammad - AJMAL, Muhammad - SECO, Celia Zazo - STROM, Tim M. - MANSOOR, Atika - MAZHAR, Kehkashan - SHAH, Syed Tahir A. - HUSSAIN, Alamdar - AZAM, Maleeha - KREMER, Hannie - QAMAR, Raheel. Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families. In PLOS ONE. ISSN 1932-6203, 2014, vol. 9, no. 6, pp. APPS, S.A. - RANKIN, W.A. - KURMIS, A.P. Connexin 26 mutations in autosomal recessive deafness disorders: A review. In International Journal of Audiology, 2007, vol.46, no.2, 75-81. BARASHKOV, Nikolay A. - DZHEMILEVA, Lilya U. - FEDOROVA, Sardana A. - TERYUTIN, Fedor M. - POSUKH, Olga L. - FEDOTOVA, Elvira E. - LOBOV, Simeon L. - KHUSNUTDINOVA, Elza K. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G > A in GJB2 gene as a result of founder effect. In JOURNAL OF HUMAN GENETICS, 2011, vol.56, no.9, 631. GABRIKOVA, Dana - MISTRIK, Martin - BERNASOVSKA, Jarmila - BOZIKOVA, Alexandra - BEHULOVA, Regina - TOTHOVA, Iveta - MACEKOVA, Sona. Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. In JOURNAL OF APPLIED GENETICS. ISSN 1234-1983, 2013, vol. 54, no. 4, pp. 455. GANDIA, Marta - DEL CASTILLO, Francisco J. - RODRIGUEZ-ALVAREZ, Francisco J. - GARRIDO, Gema - VILLAMAR, Manuela - CALDERON, Manuela - MORENO-PELAYO, Miguel A. - MORENO, Felipe - DEL CASTILLO, Ignacio. A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment. In PLOS ONE. ISSN 1932-6203, 2013, vol. 8, no. 9, pp. HOEFSLOOT, Lies H. - ROUX, Anne-Francoise - BITNER-GLINDZICZ, Maria. EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. In EUROPEAN JOURNAL OF HUMAN GENETICS. 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Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2011, vol.75, no.2, 211. GASPERIKOVA, D. - MASINDOVA, I. - VARGA, L. - STANIK, J. - VALENTINOVA, L. - PROFANT, M. - KLIMES, I. Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies. In Endocrine Regulations, 2012, 46, 3, pp. 167-186. DEL CASTILLO, Francisco J. - DEL CASTILLO, Ignacio. The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. In FRONTIERS IN BIOSCIENCE-LANDMARK, 2011, vol.16, no., 3252. ZAINAL, Siti Aishah - DAUD, Mohd Khairi Md - ABD RAHMAN, Normastura - ZAINUDDIN, Zafarina - ALWI, Zilfalil. Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2012, vol. 76, no. 8, pp. 1175. RADULESCU, Luminita - MARTU, Cristian - BIRKENHAEGER, Ralf - COZMA, Sebastian - UNGUREANU, Loreta - LASZIG, Roland. Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2012, vol. 76, no. 1, pp. 90. BROZKOVA, D. Safka - LASTUVKOVA, J. - STEPANKOVA, H. - KRUTOVA, M. - TRKOVA, M. - MYSKA, P. - SEEMAN, P. DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. In CLINICAL GENETICS. ISSN 0009-9163, 2012, vol. 82, no. 6, pp. 579. REGUEIRO, M. - STANOJEVIC, A. - CHENNAKRISHNAIAH, S. - RIVERA, L. - VARLJEN, T. - ALEMPIJEVIC, D. - STOJKOVIC, O. - SIMMS, T. - GAYDEN, T. - HERRERA, R.J. Divergent patrilineal signals in three Roma populations. In American Journal of Physical Anthropology, 2011, vol.144, no.1, 80-91. 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DZHEMILEVA, Lilya U. - BARASHKOV, Nikolay A. - POSUKH, Olga L. - KHUSAINOVA, Rita I. - AKHMETOVA, Vita L. - KUTUEV, Ildus A. - GILYAZOVA, Irina R. - TADINOVA, Vera N. - FEDOROVA, Sardana A. - KHIDIYATOVA, Irina M. - LOBOV, Simeon L. - KHUSNUTDINOVA, Elza K. Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia. In JOURNAL OF HUMAN GENETICS. ISSN 1434-5161, 2010, vol. 55, no. 11, pp. 749-754. RADULESCU, Luminita - CUROCICHIN, Ghenadie - BUZA, Anastasia - PARII, Sergiu - MERIACRE, Tatiana - CHIOSA, Doina Chiaburu - BUTNARU, Corina - BIRKENHAEGER, Ralf - MARTU, Cristian. Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss. In REVISTA DE CHIMIE. ISSN 0034-7752, 2018, vol. 69, no. 8, pp. 2273-2277. KOOHIYAN, Mahbobeh - AZADEGAN-DEHKORDI, Fatemeh - KOOHIAN, Farideh - HASHEMZADEH-CHALESHTORI, Morteza. 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In EUROPEAN JOURNAL OF HUMAN GENETICS. ISSN 1018-4813, 2019, vol. 27, no. 6, pp. 869-878. GIBRIEL, Abdullah A. - ABOU-ELEW, Maha H. - MASMOUDI, Saber. Analysis of p.Gly12Valfs*2, p.Trp24*and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis. In MOLECULAR BIOLOGY REPORTS. ISSN 0301-4851, 2019, vol. 46, no. 2, pp. 2139-2145. KOOHIYAN, Mahbobeh - AHMADI, Amirhossein - KOOHIAN, Farideh - AGHAEI, Shahrzad - AMIRI, Beheshteh - HASHEMZADEH-CHALESHTORI, Morteza. An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2019, vol. 119, no., pp. 136-140. MESZAROSOVA, Anna Uhrova - SEEMAN, Pavel - JENCIK, Jan - DRABOVA, Jana - CIBOCHOVA, Renata - STELLMACHOVA, Julia - BROZKOVA, Dana Safka. Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. In NEUROSCIENCE LETTERS. ISSN 0304-3940, 2020, vol. 721, no., pp. Dostupné na: https://doi.org/10.1016/j.neulet.2020.134800. ZYTSAR, Marina - BADY-KHOO, Marita S. - DANILCHENKO, Valeriia Yu - MASLOVA, Ekaterina A. - BARASHKOV, Nikolay A. - MOROZOV, Igor - BONDAR, Alexander A. - POSUKH, Olga L. High Rates of Three Common GJB2 Mutations c.516G > C, c.-23+1G > A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect. In GENES, 2020, vol. 11, no. 7, pp. Dostupné na: https://doi.org/10.3390/genes11070833. RESMERITA, Irina - COZMA, Romica Sebastian - POPESCU, Roxana - RADULESCU, Luminita Mihaela - PANZARU, Monica Cristina - BUTNARIU, Lacramioara Ionela - CABA, Lavinia - ILIE, Ovidiu-Dumitru - GAVRIL, Eva-Cristiana - GORDUZA, Eusebiu Vlad - RUSU, Cristina. Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review. In GENES, 2020, vol. 11, no. 12, pp. Dostupné na: https://doi.org/10.3390/genes11121506. REIS, Claudia Sousa - SANTOS, Ana Cristina - BARROS, Henrique - FERNANDES, Susana - MOURA, Carla Pinto. GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population. In ACTA MEDICA PORTUGUESA. ISSN 1646-0758, 2021, vol. 34, no. 9, pp. 592-600. Dostupné na: https://doi.org/10.20344/amp.13781. FONT-PORTERIAS, Neus - GIMENEZ, Aaron - CARBALLO-MESA, Annabel - CALAFELL, Francesc - COMAS, David. Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants. In FRONTIERS IN GENETICS, 2021, vol. 12, no., pp. Dostupné na: https://doi.org/10.3389/fgene.2021.683880. Kategória ADDA - Vedecké práce v domácich karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2003 Registrované v WOS Registrované v SCOPUS Registrované v CCC 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2003 2002 0.719
Počet záznamov: 1