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  1. 2019

  2. 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)

    Posukh, O. L., Zytsar, M. V., Bady-Khoo, M. S., Danilchenko, V. Y., Maslova, E. A., Barashkov, N. A., Bondar, A. A., Morozov, I. V., Maximov, V. N. & Voevoda, M. I., 5 Jun 2019, In: Genes. 10, 6, 17 p., 429.

    Research output: Contribution to journal › Article › peer-review

  3. Allelic diversity of the GJB2 gene in deaf patients and ethnically matched controls from Turkic-speaking populations of South Siberia

    Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Danilchenko, V. Y., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., Jul 2019, In: European journal of human genetics. 27, p. 894-895 2 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  4. Insight into genetic and social aspects of modern communities of deaf people in Siberia for forecasting the prevalence of hereditary deafness

    Posukh, O. L., Bady-Khoo, M. S., Romanov, G. P., Barashkov, N. A., Smirnova, A. A., Zytsar, M. V., Maslova, E. A., Danilchenko, V. Y., Posukh, O. V. & Lashin, S. A., Jul 2019, In: European journal of human genetics. 27, p. 1038-1038 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  5. Opinions of young hearing people living in the Sakha Republic (Russia) about potential risk of the birth of deaf child

    Cherdonova, A. M., Solovyev, A. V., Pshennikova, V. G., Barashkov, N. A., Romanov, G. P., Nikanorova, A. A., Kononova, S. K., Posukh, O. L., Fedorova, S. A. & Teryutin, F. M., Jul 2019, In: European journal of human genetics. 27, p. 717-717 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  6. Progressive post-lingual sensorineural hearing loss with unknown etiology in subarctic part of Russia (Sakha Republic)

    Barashkov, N. A., Romanov, G. P., Teryutin, F. M., Pshennikova, V. G., Solovyev, A. V., Gotovtsev, N. N., Nikanorova, A. A., Dzhemileva, L. U., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., Jul 2019, In: European journal of human genetics. 27, p. 897-897 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  7. Waardenburg syndrome in the Sakha Republic (Eastern Siberia, Russia): mutation analyses of genes PAX3, MITF, SOX10 and SNAI2

    Барашков, Н., Борисова, У., Романов, Г., Соловьев, А., Пшенникова, В., Терютин, Ф., Бондарь, А., Морозов, И. В., Джемилева, Л., Хуснутдинова, Э., Посух, О. Л. & Федорова, С., 1 Jul 2019, In: European journal of human genetics. 26, p. 852 2 p., E-P02.25.

    Research output: Contribution to journal › Conference article › peer-review

  8. Evidence of thicker epidermal layer in individuals heterozygous for mutation c.-23+1G > A in GJB2 gene (Cx26)

    Solovyev, A. V., Barashkov, N. A., Teryutin, F. M., Pshennikova, V. G., Romanov, G. P., Rafailov, A. M., Sazonov, N. N., Posukh, O. L., Khusnutdinova, E. K. & Fedorova, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1754-1754 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  9. Founder haplotype bearing mutation c.1621C > T (p.Gln541*) in the FYCO1 gene causing of autosomal recessive cataract (CTRCT18) in the Sakha Republic of Russia

    Barashkov, N. A., Vychuzhina, L. S., Solovyev, A. V., Teryutin, F. M., Pshennikova, V. G., Burtseva, T. E., Tomsky, M. I., Platonov, F. A., Romanov, G. P., Gotovtsev, N. N., Khusnutdinova, E. K., Posukh, O. L. & Fedororva, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1220-1221 2 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  10. Postlingual deafness in Eveno-Bytantaysky National District of the Sakha Republic (Eastern Siberia, Russia): audiological and clinical-genealogical analysis

    Pshennikova, V. G., Teryutin, F. M., Barashkov, N. A., Romanov, G. P., Solov'ev, A. V., Gotovtsev, N. N., Nikanorova, A. A., Dzhemileva, L. U., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1820-1821 2 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  11. 2020

  12. Изучение функциональной значимости варианта с.516G>C (p.Trp172Cys) гена GJB2, ассоциированного с потерей слуха у коренного населения Южной Сибири

    Маслова, Е. А., Зыцарь, М. В., Danilchenko, V. Y., Орищенко, К. Е. & Посух, О. Л., 2020, In: Медицинская генетика. 19, 7, p. 51-53 3 p., 21.

    Research output: Contribution to journal › Article › peer-review

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