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MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin
Title MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin Author Mašindová Ivica 1983 SAVEXEND - Ústav experimentálnej endokrinológie SAV Co-authors Šoltýsová Andrea 1980- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Varga Lukáš 1982- SAVEXEND - Ústav experimentálnej endokrinológie SAV Mátyás Petra Ficek Andrej Hučková Miroslava SAVEXEND ; SAVMOMEC - Ústav experimentálnej endokrinológie SAV ORCID Sůrová Martina SAVEXEND - Ústav experimentálnej endokrinológie SAV Šafka-Brožková Dana Anwar Salma Bene Judith Straka Slavomír Janicsek Ingrid Ahmed Zubair M. Seeman Pavel Melegh B. Profant Milan Klimeš Iwar SAVEXEND - Ústav experimentálnej endokrinológie SAV Riazuddin Saima Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Gašperíková Daniela SAVEXEND ; SAVMOMEC - Ústav experimentálnej endokrinológie SAV RID ORCID Source document PLoS ONE. Vol. 10, iss. 4 (2015), art. no. e0124232 Language eng - English Note APVV-0148-10, ITMS 26240220071 Document kind rozpis článkov z periodík (rzb) Citations GALLEGO-MARTINEZ, Alvaro - REQUENA, Teresa - ROMAN-NARANJO, Pablo - LOPEZ-ESCAMEZ, Jose A. - AMOR-DORADO, Juan Carlos - ARAN, Ismael - BATUECAS-CALETRIO, Angel - BENITEZ, Jesus - FRAILE, Jesus - GARCIA-ARUMI, Ana - GONZALEZ-A, Rocio - ESPINOSA-SANCHEZ, Juan M. - MANRIQUE HUARTE, Raquel - PEREZ-FERNANDEZ, Nicolas - MARQUES, Pedro - SANZ, Ricardo - OLIVA DOMINGUEZ, Manuel - TEGGI, Roberto. Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. In FRONTIERS IN GENETICS. ISSN 1664-8021, 2019, vol. 10, no., pp. ZHENG, Jing - MENG, Wen-fang - ZHANG, Chao-fan - LIU, Han-qing - YAO, Juan - WANG, Hui - CHEN, Ye - GUAN, Min-xin. New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. In JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B. ISSN 1673-1581, 2019, vol. 20, no. 2, pp. 164-169. TAGHIPOUR-SHESHDEH, Afsaneh - NEMATI-ZARGARAN, Fatemeh - ZAREPOUR, Narges - TAHMASEBI, Parisa - SAKI, Nader - TABATABAIEFAR, Mohammad Amin - MOHAMMADI-ASL, Javad - HASHEMZADEH-CHALESHTORI, Morteza. A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. In GENOMICS. ISSN 0888-7543, 2019, vol. 111, no. 4, pp. 840-848. SADEGHI, Zahra - PARISA, Seyedeh - TARZJANI, Chavoshi - MOOSAVI, Reyhaneh Sadat Miri - SABER, Siamak - EBRAHIMI, Ahmad. A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss. In INTERNATIONAL MEDICAL CASE REPORTS JOURNAL. ISSN 1179-142X, 2020, vol. 13, no., pp. 291-296. HASNAIN, Mirza J. - KHAN, Muhammad U.Z. - MAQSOOD, Khizra - ASLAM, Tahera - BABAR, Masroor E. - YANG, Shunli - SOHAIL, Huma - PERVEZ, Muhammad T. - CAI, Jianping. An overview of pathways network analysis of pendred syndromic genes. In Proceedings of the Pakistan Academy of Sciences: Part B. ISSN 25184261, 2020-01-01, 57, 2, pp. 15-26. SWANWICK, R. - ELMORE, J. - SALTER, J. Educational inclusion of children who are deaf or hard of hearing and from migrant Roma families: Implications for multi-professional working. In DEAFNESS & EDUCATION INTERNATIONAL. ISSN 1464-3154, 2021, vol. 23, no. 1, pp. 25-42. Dostupné na: https://doi.org/10.1080/14643154.2019.1685756. LIPPHARDT, Veronika - RAPPOLD, Gudrun A. - SURDU, Mihai. Representing vulnerable populations in genetic studies: The case of the Roma. In SCIENCE IN CONTEXT, 2021, vol. 34, no. 1, pp. 69-100. ISSN 0269-8897. Dostupné na: https://doi.org/10.1017/S0269889722000023. NAZ, Sadaf. Molecular genetic landscape of hereditary hearing loss in Pakistan. In HUMAN GENETICS, 2022, vol. 141, no. 3-4, pp. 633-648. ISSN 0340-6717. Dostupné na: https://doi.org/10.1007/s00439-021-02320-0. Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2015 Registered in WOS Registered in SCOPUS DOI 10.1371/journal.pone.0124232 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2015 2014 3.234 Q1 1.559 Q1
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