Search Results - "Barashkov, N. A."

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    The Spectrum and Frequency of Inner Ear Anomalies in Patients with Congenital Hearing Impairment in Yakutia by Klarov, L. A., Barashkov, N. A., Teryutin, F. M., Romanov, G. P., Popov, M. M., Solov’ev, A. V., Luginov, N. V., Tobokhov, A. V., Kotlyarov, P. M.

    Published in Vestnik rentgenologii i radiologii (17-05-2020)
    “…Objective . To analyze the spectrum and frequency of inner ear anomalies in patients with congenital hearing impairment in Yakutia. Material and methods . A…”
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    Journal Article
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    The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya by Teryutin, F M, Barashkov, N A, Kunel'skaya, N L, Pshennikova, V G, Solov'ev, A V

    Published in Vestnik otorinolaringologii (2016)
    “…In the course of previous investigations carried out in the Republic of Sakha (Yakutiya), we have identified the main molecular-genetic factor responsible for…”
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    The impact of the sociodemographic structure of deaf people communities on the prevalence of hereditary hearing loss by Posukh, O. L., Bady-Khoo, M. S., Zytsar, M. V., Mikhalskaia, V. Yu, Lashin, S. A., Barashkov, N. A., Romanov, G. P.

    “…Hearing loss caused by environmental or genetic factors concerns more than 10% of the world’s population, leading to disability and considerable deterioration…”
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    Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss by O. L. Posukh, M. S. Bady-Khoo, M. V. Zytsar, V. Yu. Mikhalskaia, S. A. Lashin, N. A. Barashkov, G. P. Romanov

    “…Hearing loss caused by environmental or genetic factors concerns more than 10 % of the world population. It leads to disability and considerably reduces the…”
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    Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia by Dzhemileva, L U, Posukh, O L, Barashkov, N A, Fedorova, S A, Teryutin, F M, Akhmetova, V L, Khidiyatova, I M, Khusainova, R I, Lobov, S L, Khusnutdinova, E K

    Published in Actanaturae (01-07-2011)
    “…The mutations in theGJB2(Сх26) gene make the biggest contribution to hereditary hearing loss. The spectrum and prevalence of theGJB2gene mutations are specific…”
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    Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia by Dzhemileva, L U, Posukh, O L, Tazetdinov, A M, Barashkov, N A, Zhuravskiĭ, S G, Ponidelko, S N, Markova, T G, Tadinova, V N, Fedorova, S A, Maksimova, N R, Khusnutdinova, E K

    Published in Genetika (01-07-2009)
    “…Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from…”
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    Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia) by Barashkov, N A, Dzhemileva, L U, Fedorova, S A, Maksimova, N R, Khusnutdinova, E K

    Published in Vestnik otorinolaringologii (2008)
    “…The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia)…”
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    Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene by Teriutin, F M, Barashkov, N A, Dzhemileva, L U, Posukh, O L, Fedotova, E E, Gurinova, E E, Fedorova, S A, Tavartkiladze, G A, Khusnutdinova, E K

    Published in Vestnik otorinolaringologii (2009)
    “…This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing…”
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    Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia by Solovyev, A. V., Barashkov, N. A., Bady-Khoo, M. S., Zytsar, M. V., Posukh, O. L., Romanov, G. P., Rafailov, A. M., Sazonov, N. N., Alexeev, A. N., Dzhemileva, L. U., Khusnutdinova, E. K., Fedorova, S. A.

    Published in Russian journal of genetics (01-08-2017)
    “…The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11-q12) associated with congenital non-syndromic autosomal…”
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