Literature DB >> 18762573

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

A Pollak, M Mueller-Malesinska, A Skórka, G Kostrzewa, M Ołdak, L Korniszewski, H Skarzýński, R Ploski.   

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Year:  2008        PMID： 18762573     DOI： 10.1136/jmg.2008.059873

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment.

Authors:  Agnieszka Pollak; Malgorzata Mueller-Malesinska; Urszula Lechowicz; Agata Skorka; Lech Korniszewski; Agnieszka Sobczyk-Kopciol; Anna Waskiewicz; Grazyna Broda; Katarzyna Iwanicka-Pronicka; Monika Oldak; Henryk Skarzynski; Rafał Płoski
Journal:  DNA Cell Biol       Date:  2012-03-16       Impact factor: 3.311

2.  Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.

Authors:  L Varga; I Mašindová; M Hučková; Z Kabátová; D Gašperíková; I Klimeš; M Profant
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-05-23       Impact factor: 2.503

3.  The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.

Authors:  Martin Koenighofer; Trevor Lucas; Thomas Parzefall; Reinhard Ramsebner; Christian Schoefer; Klemens Frei
Journal:  Eur Arch Otorhinolaryngol       Date:  2014-08-02       Impact factor: 2.503

4.  Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.

Authors:  Christopher Beck; Jose Carmelo Pérez-Álvarez; Alexander Sigruener; Frank Haubner; Till Seidler; Charalampos Aslanidis; Jürgen Strutz; Gerd Schmitz
Journal:  Eur Arch Otorhinolaryngol       Date:  2014-09-12       Impact factor: 2.503

5.  Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.

Authors:  Stéphanie Moisan; Anaïs Le Nabec; Alicia Quillévéré; Cédric Le Maréchal; Claude Férec
Journal:  Hum Genet       Date:  2019-10-04       Impact factor: 4.132

6.  Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Authors:  Monika Ołdak; Urszula Lechowicz; Agnieszka Pollak; Dominika Oziębło; Henryk Skarżyński
Journal:  J Transl Med       Date:  2019-08-14       Impact factor: 5.531

7.  Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).

Authors:  Olga L Posukh; Marina V Zytsar; Marita S Bady-Khoo; Valeria Yu Danilchenko; Ekaterina A Maslova; Nikolay A Barashkov; Alexander A Bondar; Igor V Morozov; Vladimir N Maximov; Michael I Voevoda
Journal:  Genes (Basel)       Date:  2019-06-05       Impact factor: 4.096

8.  Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association.

Authors:  T D Matos; H Simões-Teixeira; H Caria; R Cascão; H Rosa; A O'Neill; O Dias; M E Andrea; D P Kelsell; G Fialho
Journal:  Genet Res Int       Date:  2011-10-05

9.  Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.

Authors:  Katarzyna Iwanicka-Pronicka; Agnieszka Pollak; Agata Skórka; Urszula Lechowicz; Magdalena Pajdowska; Mariusz Furmanek; Maciej Rzeski; Lech Korniszewski; Henryk Skarżyński; Rafał Płoski
Journal:  PLoS One       Date:  2012-10-25       Impact factor: 3.240

10.  GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Authors:  Pu Dai; Fei Yu; Bing Han; Xuezhong Liu; Guojian Wang; Qi Li; Yongyi Yuan; Xin Liu; Deliang Huang; Dongyang Kang; Xin Zhang; Huijun Yuan; Kun Yao; Jinsheng Hao; Jia He; Yong He; Youqin Wang; Qing Ye; Youjun Yu; Hongyan Lin; Lijia Liu; Wei Deng; Xiuhui Zhu; Yiwen You; Jinghong Cui; Nongsheng Hou; Xuehai Xu; Jin Zhang; Liang Tang; Rendong Song; Yongjun Lin; Shuanzhu Sun; Ruining Zhang; Hao Wu; Yuebing Ma; Shanxiang Zhu; Bai-Lin Wu; Dongyi Han; Lee-Jun C Wong
Journal:  J Transl Med       Date:  2009-04-14       Impact factor: 5.531
  10 in total

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