1. 2023
  2. 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 journalReview articlepeer-review

  3. 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 journalArticlepeer-review

  4. 2022
  5. 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 journalArticlepeer-review

  6. 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 journalArticlepeer-review

  7. 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 journalReview articlepeer-review

  8. 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 journalArticlepeer-review

  9. 2021
  10. 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 journalArticlepeer-review

  11. 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 journalArticlepeer-review

  12. 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 journalArticlepeer-review

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