Počet záznamov: 1
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss
Názov Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss Autor Minárik G. Spoluautori Tretinárová D. Szemes Tomáš Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Zdroj.dok. International journal of pediatric otorhinolaryngology. Vol.76, (2012), p. 400-403 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy DE LA LUZ ARENAS-SORDO, Maria - MENENDEZ, Ibis - HERNANDEZ-ZAMORA, Edgar - SIRMACI, Asli - GUTIERREZ-TINAJERO, Diana - MCGETRICK, Molly - MURPHY-RUIZ, Paulina - LEYVA-JUAREZ, Xolotl - HUESCA-HERNANDEZ, Fabiola - DOMINGUEZ-ABURTO, Juan - TEKIN, Mustafa. Unique spectrum of GJB2 mutations in Mexico. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2012, vol. 76, no. 11, pp. 1678. 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. 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. CHEN, Guanming - LIU, Jing - DONG, Jiashu - LI, Jiaxin - FU, Siqing. GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2014, vol. 78, no. 2, pp. 244-247. BLIZNETZ, E. A. - MARTSUL, D. N. - KHOROV, O. G. - MARKOVA, T. G. - POLYAKOV, A. V. Spectrum of the GJB2 Mutations in Belarussian Patients with Hearing Loss. Findings of Pilot Genetic Screening of Hearing Impairment in Newborns. In RUSSIAN JOURNAL OF GENETICS. ISSN 1022-7954, 2014, vol. 50, no. 2, pp. 191-197. VARGA, L. - MASINDOVA, I. - HUCKOVA, M. - KABATOVA, Z. - GASPERIKOVA, D. - KLIMES, I. - PROFANT, M. Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. In EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. ISSN 0937-4477, 2014, vol. 271, no. 6, pp. 1401-1407. LOEZA-BECERRA, Francisco - DEL REFUGIO RIVERA-VEGA, Maria - MARTINEZ-SAUCEDO, Mirna - MARIA GONZALEZ-HUERTA, Luz - URUETA-CUELLAR, Hector - BERRRUECOS-VILLALOBOS, Pedro - CUEVAS-COVARRUBIAS, Sergio. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. In INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. ISSN 0165-5876, 2014, vol. 78, no. 7, pp. 1057-1060. TSUKADA, Keita - NISHIO, Shin-ya - HATTORI, Mitsuru - USAMI, Shin-ichi. Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review. In ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY. ISSN 0003-4894, 2015, vol. 124, no., pp. 61S-76S. DRAGOMIR, Cristina - IONESCU, Adriana Ionescu - SAVU, Lorand - SEVERIN, Emilia. Detection of the GJB2 gene mutations in two children with hearing impairment. In REVISTA ROMANA DE MEDICINA DE LABORATOR. ISSN 1841-6624, 2015, vol. 23, no. 4, pp. 495-499. MIKSTIENE, Violeta - JAKAITIENE, Audrone - BYCKOVA, Jekaterina - GRADAUSKIENE, Egle - PREIKSAITIENE, Egle - BURNYTE, Birute - TUMIENE, Birute - MATULEVICIENE, Ausra - AMBROZAITYTE, Laima - UKTVERYTE, Ingrida - DOMARKIENE, Ingrida - RANCELIS, Tautvydas - CIMBALISTIENE, Loreta - LESINSKAS, Eugenijus - KUCINSKAS, Vaidutis - UTKUS, Algirdas. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. In BMC GENETICS. ISSN 1471-2156, 2016, vol. 17, no., pp. BARASHKOV, Nikolay A. - PSHENNIKOVA, Vera G. - POSUKH, Olga L. - TERYUTIN, Fedor M. - SOLOVYEV, Aisen V. - KLAROV, Leonid A. - ROMANOV, Georgii P. - GOTOVTSEV, Nyurgun N. - KOZHEVNIKOV, Andrey A. - KIRILLINA, Elena V. - SIDOROVA, Oksana G. - VASILYEV, Lena M. - FEDOTOVA, Elvira E. - MOROZOV, Igor V. - BONDAR, Alexander A. - SOLOVYEVA, Natalya A. - KONONOVA, Sardana K. - RAFAILOV, Adyum M. - SAZONOV, Nikolay N. - ALEKSEEV, Anatoliy N. - TOMSKY, Mikhail I. - DZHEMILEVA, Lilya U. - KHUSNUTDINOVA, Elza K. - FEDOROVA, Sardana A. Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). In PLOS ONE. ISSN 1932-6203, 2016, vol. 11, no. 5, pp. PAVITHRA, Amritkumar - CHANDRU, Jayasankaran - JEFFREY, Justin Margret - KARTHIKEYEN, N. P. - SRISAILAPATHY, C. R. Srikumari. Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family. In EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. ISSN 0937-4477, 2017, vol. 274, no. 1, pp. 119-125. LAZAR, Calin - POPP, Radu - AL-KHZOUZ, Camelia - MIHUT, Gheorghe - GRIGORESCU-SIDO, Paula. GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss. In REVISTA ROMANA DE MEDICINA DE LABORATOR. ISSN 1841-6624, 2017, vol. 25, no. 1, pp. 37-46. SOLOVYEV, A. V. - BARASHKOV, N. A. - BADY-KHOO, M. S. - ZYTSAR, M. V. - POSUKH, O. L. - ROMANOV, G. P. - RAFAILOV, A. M. - SAZONOV, N. N. - ALEXEEV, A. N. - DZHEMILEVA, L. U. - KHUSNUTDINOVA, E. K. - FEDOROVA, S. A. Reconstruction of SNP haplotypes with mutation c.-23+1G > A in human gene GJB2 (Chromosome 13) in some populations of Eurasia. In RUSSIAN JOURNAL OF GENETICS. ISSN 1022-7954, 2017, vol. 53, no. 8, pp. 936-941. 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. KECSKEMETI, Nora - SZONYI, Magdolna - GABORJAN, Anita - KUSTEL, Marianna - MILLEY, Gyoergy Mate - SUVEGES, Anna - ILLES, Anett - KEKESI, Anna - TAMAS, Laszlo - MOLNAR, Maria Judit - SZIRMAI, Agnes - GAL, Aniko. Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort. In EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. ISSN 0937-4477, 2018, vol. 275, no. 10, pp. 2441-2448. JOURET, Guillaume - POIRSIER, Celine - SPODENKIEWICZ, Marta - JAQUIN, Clemence - GOUY, Evan - ARNDT, Carl - LABROUSSE, Marc - GAILLARD, Dominique - DOCO-FENZY, Martine - LEBRE, Anne-Sophie. Genetics of Usher Syndrome: New Insights From a Meta-analysis. In OTOLOGY & NEUROTOLOGY. ISSN 1531-7129, 2019, vol. 40, no. 1, pp. 121-129. DEL CASTILLO, Ignacio - MORIN, Matias - DOMINGUEZ-RUIZ, Maria - MORENO-PELAYO, Miguel A. Genetic etiology of non-syndromic hearing loss in Europe. In HUMAN GENETICS, 2022, vol. 141, no. 3-4, pp. 683-696. ISSN 0340-6717. Dostupné na: https://doi.org/10.1007/s00439-021-02425-6. MONDAL, Tanmoy - LOFFREDO, Christopher A. - TRNOVEC, Tomas - MURINOVA, Lubica Palkovicova - NOREEN, Zarish - NNANABU, Thomas - CONKA, Kamil - DROBNA, Beata - GHOSH, Somiranjan. Gene expression signatures in PCB-exposed Slovak children in relation to their environmental exposures and socio-physical characteristics. In ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH, 2022, vol. 29, no. 40, pp. 60531-60541. ISSN 0944-1344. Dostupné na: https://doi.org/10.1007/s11356-022-20018-2. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2012 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/j.ijporl.2011.12.020 
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) 2012 2011 1.167 Q3 0.836 Q1
Počet záznamov: 1