Genetic etiology of hearing loss in Russia

Author:

Posukh Olga L.ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference90 articles.

1. Amelina SS, Vetrova NV, Amelina MA, Degtereva EV, Ponomareva TI, El’chinova GI, Mikhaĭlova LK, Zinchenko RA (2014) The load and diversity of hereditary diseases in four raions of Rostov oblast. Genetika 50(1):91–99 (in Russian)

2. Bady-Khoo MS, Bondar AA, Morozov IV, Zytsar MV, Mikhalskaya VYu, Skidanova OV, Barashkov NA, Mongush RSh, Omzar OS, Tukar VM, Posukh OL (2014) Study of hereditary forms of hearing loss in the Republic of Tyva. II. Evaluation of the mutational spectrum of the GJB2 (Cx26) gene and its contribution to the etiology of hearing loss. Med Genetics 13(11):30–40 (in Russian)

3. Barashkov NA, Dzhemileva LU, Fedorova SA, Teryutin FM, Posukh OL, Fedotova EE, Lobov SL, Khusnutdinova EK (2011) 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. J Hum Genet 56(9):631–639. https://doi.org/10.1038/jhg.2011.72

4. Barashkov NA, Dzhemileva LU, Posukh OL, Teryutin FM, Solov’ev AV, Pshennikova VG, Fedotova EE, Solov’eva NA, Alekseev AN, Fedorova SA, Khusnutdinova EK (2012) Autosomal recessive deafness 1A (DFNB1 A): identification of the endemic GJB2—allelic variant in Eastern Siberia. Yakut Med J 4(40):101–104 (in Russian)

5. Barashkov NA, Pshennikova VG, Posukh OL, Teryutin FM, Solovyev AV, Klarov LA, Romanov GP, Gotovtsev NN, Kozhevnikov AA, Kirillina EV, Sidorova OG, Vasilyeva LM, Fedotova EE, Morozov IV, Bondar AA, Solovyeva NA, Kononova SK, Rafailov AM, Sazonov NN, Alekseev AN, Tomsky MI, Dzhemileva LU, Khusnutdinova EK, Fedorova SA (2016) 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). PLoS ONE 11(5):e0156300. https://doi.org/10.1371/journal.pone.0156300

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