1 - 20 out of 42Page size: 20
  1. 2026

  2. Новый вариант c.1185_1196dup (p.(Gly396_Ser399dup)) в гене SLC26A4, ассоциированный с рецессивно наследуемой тугоухостью

    Посух, О. Л., Зыцарь, М. В., Данильченко, В. Ю. & Орищенко, К. Е., Sept 2026, In: Вавиловский журнал генетики и селекции. 30, 5, p. 814-823 10 p.

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

  3. 2025

  4. Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay

    Danilchenko, V. Y., Panina, E. A., Zytzar, M. V., Orishchenko, K. E. & Posukh, O. L., 4 Nov 2025, In: International Journal of Molecular Sciences. 26, 21, 16 p., 10732.

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

  5. Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay

    Данильченко, В. Ю., Панина, Е. А., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., Nov 2025, In: European journal of human genetics. 33, Suppl. 1, p. 186 1 p., EP04.017.

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

  6. Analysis by Minigene Assay of the Splicing Effect of a Novel Variant c.1545T>G in the SLC26A4 Gene Associated with Hearing Loss

    Panina, E. A., Danilchenko, V. Y., Zytsar, M. V., Orishchenko, K. E. & Posukh, O. L., 10 Jun 2025, In: Russian Journal of Genetics. 61, 5, p. 602-607 6 p.

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

  7. Сравнительный анализ гаплотипов, несущих патогенные варианты C.1545T>G, C.2027T>A и C.919-2A>G гена SLC26A4, у пациентов с потерей слуха из Республики Тыва (Южная Сибирь)

    Danilchenko, V. Y., Zytsar, M. V., Panina, E. A., Orishchenko, K. E. & Posukh, O. L., Feb 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 1, p. 144-152 9 p., 16.

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

  8. Анализ влияния на сплайсинг вариантов гена SLC26A4, выявленных у пациентов с потерей слуха из Республик Тыва и Алтай (Южная Сибирь)

    Данильченко, В. Ю., Панина, Е. А., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., 2025, In: Медицинская генетика. 24, 4, p. 53-55

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

  9. Анализ методом минигенов влияния на сплайсинг нового варианта C.1545T>G в гене SLC26A4, ассоциированного с потерей слуха

    Панина, Е. А., Данильченко, В. Ю., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., 2025, In: Генетика. 61, 5, p. 103-109

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

  10. Создание и характеристика унифицированной модельной системы in vitro для сравнительного анализа вариантов гена GJB2, ассоциированных с потерей слуха

    Маслова, Е. А., Посух, О. Л. & Орищенко, К. Е., 2025, In: Медицинская генетика. 24, 6, p. 92-94

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

  11. 2023

  12. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

    Posukh, O. L., Maslova, E. A., Danilchenko, V. Y., Zytsar, M. V. & Orishchenko, K. E., 13 Oct 2023, In: Biomolecules. 13, 10, 1521.

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

  13. The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

    Pshennikova, V. G., Teryutin, F. M., Cherdonova, A. M., Borisova, T. V., Solovyev, A. V., Romanov, G. P., Morozov, I. V., Bondar, A. A., Posukh, O. L., Fedorova, S. A. & Barashkov, N. A., 28 Apr 2023, In: Genes. 14, 5, 1001.

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

  14. Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A., Orishchenko, K. E. & Posukh, O. L., 17 Apr 2023, In: Genes. 14, 4, 928.

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

  15. 2022

  16. Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A. & Posukh, O. L., Nov 2022, In: International Journal of Molecular Sciences. 23, 21, 13453.

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

  17. A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

    Solovyev, A. V., Kushniarevich, A., Bliznetz, E., Bady-Khoo, M., Lalayants, M. R., Markova, T. G., Minárik, G., Kádasi, L., Metspalu, E., Pshennikova, V. G., Teryutin, F. M., Khusnutdinova, E. K., Poliakov, A., Metspalu, M., Posukh, O. L., Barashkov, N. A. & Fedorova, S. A., Apr 2022, In: Human Genetics. 141, 3-4, p. 697-707 11 p.

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

  18. Genetic etiology of hearing loss in Russia

    Posukh, O. L., Apr 2022, In: Human Genetics. 141, 3-4, p. 649-663 15 p.

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

  19. Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

    Romanov, G. P., Smirnova, A. A., Zamyatin, V. I., Mukhin, A. M., Kazantsev, F. V., Pshennikova, V. G., Teryutin, F. M., Solovyev, A. V., Fedorova, S. A., Posukh, O. L., Lashin, S. A. & Barashkov, N. A., Feb 2022, In: Biology. 11, 2, 257.

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

  20. 2021

  21. Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A., Bady-Khoo, M. S., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., Dec 2021, In: Diagnostics. 11, 12, 2378.

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

  22. Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

    Barashkov, N. A., Konovalov, F. A., Borisova, T. V., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Sapojnikova, N. V., Vychuzhina, L. S., Romanov, G. P., Gotovtsev, N. N., Morozov, I. V., Bondar, A. A., Platonov, F. A., Burtseva, T. E., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., Jun 2021, In: European journal of human genetics. 29, 6, p. 965-976 12 p.

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

  23. Functional evaluation of a rare variant c.516g>c (p.trp172cys) in the GJB2 (connexin 26) gene associated with nonsyndromic hearing loss

    Maslova, E. A., Orishchenko, K. E. & Posukh, O. L., Jan 2021, In: Biomolecules. 11, 1, p. 1-15 15 p., 61.

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

  24. 2020

  25. Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

    Maslova, E. A., Zytsar, M. V., Danilchenko, V. Y., Orishchenko, K. E. & Posukh, O. L., 1 Dec 2020, In: European journal of human genetics. 28, Suppl 1, p. 191-192 2 p., P02.27.B.

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

  26. Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Bondar, A. A., Morozov, I. V., Barashkov, N. A. & Posukh, O. L., 1 Dec 2020, In: European journal of human genetics. 28, Suppl 1, p. 810-811 2 p., P02.14.

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

Previous 1 2 3 Next

ID: 3455436