Posukh OL - Search Results

1

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

Danilchenko VY, Zytsar MV, Maslova EA, Posukh OL. Danilchenko VY, et al. Among authors: posukh ol. Int J Mol Sci. 2022 Nov 3;23(21):13453. doi: 10.3390/ijms232113453. Int J Mol Sci. 2022. PMID: 36362242 Free PMC article.

2

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

Сhurbanov AY, Karafet TM, Morozov IV, Mikhalskaia VY, Zytsar MV, Bondar AA, Posukh OL. Сhurbanov AY, et al. Among authors: posukh ol. PLoS One. 2016 Apr 15;11(4):e0153841. doi: 10.1371/journal.pone.0153841. eCollection 2016. PLoS One. 2016. PMID: 27082237 Free PMC article.

3

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).

Barashkov NA, Pshennikova VG, Posukh OL, Teryutin FM, Solovyev AV, Klarov LA, Romanov GP, Gotovtsev NN, Kozhevnikov AA, Kirillina EV, Sidorova OG, Vasilyevа LM, Fedotova EE, Morozov IV, Bondar AA, Solovyevа NA, Kononova SK, Rafailov AM, Sazonov NN, Alekseev AN, Tomsky MI, Dzhemileva LU, Khusnutdinova EK, Fedorova SA. Barashkov NA, et al. Among authors: posukh ol. PLoS One. 2016 May 25;11(5):e0156300. doi: 10.1371/journal.pone.0156300. eCollection 2016. PLoS One. 2016. PMID: 27224056 Free PMC article.

4

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.

Zytsar MV, Barashkov NA, Bady-Khoo MS, Shubina-Olejnik OA, Danilenko NG, Bondar AA, Morozov IV, Solovyev AV, Danilchenko VY, Maximov VN, Posukh OL. Zytsar MV, et al. Among authors: posukh ol. BMC Med Genet. 2018 Aug 7;19(1):138. doi: 10.1186/s12881-018-0650-5. BMC Med Genet. 2018. PMID: 30086704 Free PMC article.

5

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 OL, Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Bondar AA, Morozov IV, Maximov VN, Voevoda MI. Posukh OL, et al. Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429. Genes (Basel). 2019. PMID: 31195736 Free PMC article.

6

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).

Barashkov NA, Romanov GP, Borisova UP, Solovyev AV, Pshennikova VG, Teryutin FM, Bondar AA, Morozov IV, Khusnutdinova EK, Posukh OL, Burtseva TE, Odland JØ, Fedorova SA. Barashkov NA, et al. Among authors: posukh ol. Int J Circumpolar Health. 2019 Dec;78(1):1630219. doi: 10.1080/22423982.2019.1630219. Int J Circumpolar Health. 2019. PMID: 31213145 Free PMC article.

7

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Morozov IV, Bondar AA, Posukh OL. Zytsar MV, et al. Among authors: posukh ol. Genes (Basel). 2020 Jul 21;11(7):833. doi: 10.3390/genes11070833. Genes (Basel). 2020. PMID: 32708339 Free PMC article.

8

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Maslova EA, Orishchenko KE, Posukh OL. Maslova EA, et al. Among authors: posukh ol. Biomolecules. 2021 Jan 5;11(1):61. doi: 10.3390/biom11010061. Biomolecules. 2021. PMID: 33466560 Free PMC article.

9

Genetic etiology of hearing loss in Russia.

Posukh OL. Posukh OL. Hum Genet. 2022 Apr;141(3-4):649-663. doi: 10.1007/s00439-021-02327-7. Epub 2021 Aug 6. Hum Genet. 2022. PMID: 34363095 Review.

10

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 AV, Kushniarevich A, Bliznetz E, Bady-Khoo M, Lalayants MR, Markova TG, Minárik G, Kádasi L, Metspalu E, Pshennikova VG, Teryutin FM, Khusnutdinova EK, Poliakov A, Metspalu M, Posukh OL, Barashkov NA, Fedorova SA. Solovyev AV, et al. Among authors: posukh ol. Hum Genet. 2022 Apr;141(3-4):697-707. doi: 10.1007/s00439-021-02405-w. Epub 2021 Nov 27. Hum Genet. 2022. PMID: 34839402

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