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Genotype–phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26)
Author / Creator:Teryutin, Fedor M. ; Pshennikova, Vera G. ; Solovyev, Aisen V. ; Romanov, Georgii P. ; Fedorova, Sardana A. ; Barashkov, Nikolay A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-10, Vol.19 (10), p.e0309439
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High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect
Author / Creator:Borisova, Tuyara V. ; Cherdonova, Aleksandra M. ; Pshennikova, Vera G. ; Teryutin, Fedor M. ; Morozov, Igor V. ; Bondar, Alexander A. ; Baturina, Olga A. ; Kabilov, Marsel R. ; Romanov, Georgii P. ; Solovyev, Aisen V. ; Fedorova, Sardana A. ; Barashkov, Nikolay A.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-07, Vol.14 (1), p.15342-10, Article 15342
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The Evaluation of Significance of Uncoupling Protein Genes UCP1, UCP2, UCP3, UCP4, UCP5, and UCP6 in Human Adaptation to Cold Climates
Author / Creator:Nikanorova, Alena A. ; Barashkov, Nikolay A. ; Pshennikova, Vera G. ; Nakhodkin, Sergey S. ; Romanov, Georgii P. ; Solovyev, Aisen V. ; Fedorova, Sardana A.
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2025-04, Vol.14 (5), p.454
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Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect
Author / Creator:Barashkov, Nikolay A ; Dzhemileva, Lilya U ; Fedorova, Sardana A ; Teryutin, Fedor M ; Posukh, Olga L ; Fedotova, Elvira E ; Lobov, Simeon L ; Khusnutdinova, Elza K
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-09, Vol.56 (9), p.631-639
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A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia
Author / Creator:Romanov, Georgii P. ; Pshennikova, Vera G. ; Lashin, Sergey A. ; Solovyev, Aisen V. ; Teryutin, Fedor M. ; Cherdonova, Aleksandra M. ; Borisova, Tuyara V. ; Sazonov, Nikolay N. ; Khusnutdinova, Elza K. ; Posukh, Olga L. ; Fedorova, Sardana A. ; Barashkov, Nikolay A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-11, Vol.15 (11), p.e0242219-e0242219
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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Author / Creator:Sazonov, Nikolay N. ; Bondar, Alexander A. ; Dzhemileva, Lilya U. ; Khusnutdinova, Elza K. ; Posukh, Olga L. ; Fedorova, Sardana ; Nakhodkin, Sergey S. ; Nikanorova, Alena A. ; Gotovtsev, Nyurgun N. ; Solov’ev, Aisen V. ; Teryutin, Fedor M. ; Romanov, Georgii P. ; Barashkov, Nikolay A. ; Pshennikova, Vera G. ; Morozov, Igor V.
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:TheScientificWorld, 2019, Vol.2019 (2019), p.1-9
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The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
Author / Creator:Pshennikova, Vera G. ; Teryutin, Fedor M. ; Cherdonova, Alexandra M. ; Borisova, Tuyara V. ; Solovyev, Aisen V. ; Romanov, Georgii P. ; Morozov, Igor V. ; Bondar, Alexander A. ; Posukh, Olga L. ; Fedorova, Sardana A. ; Barashkov, Nikolay A.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-04, Vol.14 (5), p.1001
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Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
Author / Creator:Danilchenko, Valeriia Yu ; Zytsar, Marina V. ; Maslova, Ekaterina A. ; Bady-Khoo, Marita S. ; Barashkov, Nikolay A. ; Morozov, Igor V. ; Bondar, Alexander A. ; Posukh, Olga L.
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2021-12, Vol.11 (12), p.2378
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The attitude of young people in the city of Yakutsk to DNA-testing
Author / Creator:Kononova, Sardana ; Vinokurova, Dekabrina ; Barashkov, Nikolay A ; Semenova, Ariadna ; Sofronova, Sargylana ; Oksana, Sidorova ; Tatiana, Davydova ; Struchkov, Valentin ; Burtseva, Tatiana ; Romanova, Anna ; Fedorova, Sardana
Publisher:Abingdon: Taylor & Francis
Journal title:International journal of circumpolar health, 2021-01, Vol.80 (1), p.1973697-1973697
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Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
Author / Creator:Zytsar, Marina V. ; Barashkov, Nikolay A. ; Bady-Khoo, Marita S. ; Shubina-Olejnik, Olga A. ; Danilenko, Nina G. ; Bondar, Alexander A. ; Morozov, Igor V. ; Solovyev, Aisen V. ; Danilchenko, Valeriia Yu ; Maximov, Vladimir N. ; Posukh, Olga L.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-08, Vol.19 (1), p.138-138, Article 138
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Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
Author / Creator:Romanov, Georgii P. ; Smirnova, Anna A. ; Zamyatin, Vladimir I. ; Mukhin, Aleksey M. ; Kazantsev, Fedor V. ; Pshennikova, Vera G. ; Teryutin, Fedor M. ; Solovyev, Aisen V. ; Fedorova, Sardana A. ; Posukh, Olga L. ; Lashin, Sergey A. ; Barashkov, Nikolay A.
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2022-02, Vol.11 (2), p.257
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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)
Author / Creator:Barashkov, Nikolay A. ; Romanov, Georgii P. ; Borisova, Uigulaana P. ; Solovyev, Aisen V. ; Pshennikova, Vera G. ; Teryutin, Fedor M. ; Bondar, Alexander A. ; Morozov, Igor V. ; Khusnutdinova, Elza K. ; Posukh, Olga L. ; Burtseva, Tatiana E. ; Odland, Jon Øyvind ; Fedorova, Sardana A.
Publisher:United States: Taylor & Francis Ltd
Journal title:International journal of circumpolar health, 2019-12, Vol.78 (1), p.1630219
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A serological survey of echinococcosis, toxocariasis and trichinellosis among rural inhabitants of Central Yakutia
Author / Creator:Nakhodkin, Sergey S. ; Pshennikova, Vera G. ; Dyachkovskaya, Paraskovia S. ; Barashkov, Nikolay A. ; Nikanorova, Alena A. ; Teryutin, Fedor M. ; Melnichuk, Olga A. ; Crubézy, Eric ; Fedorova, Sardana A. ; Magnaval, Jean-François
Publisher:United States: Taylor & Francis
Journal title:International journal of circumpolar health, 2019-01, Vol.78 (1), p.1603550
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Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1GA splice site variant of the GJB2 gene
Author / Creator:Teryutin, Fedor M ; Pshennikova, Vera G ; Solovyev, Aisen V ; Romanov, Georgii P ; Fedorova, Sardana A ; Barashkov, Nikolay A
Publisher:Public Library of Science
Journal title:PloS one, 2024-10, Vol.19 (10), p.e0309439
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Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia
Author / Creator:Dzhemileva, Lilya U ; Barashkov, Nikolay A ; Posukh, Olga L ; Khusainova, Rita I ; Akhmetova, Vita L ; Kutuev, Ildus A ; Gilyazova, Irina R ; Tadinova, Vera N ; Fedorova, Sardana A ; Khidiyatova, Irina M ; Lobov, Simeon L ; Khusnutdinova, Elza K
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2010-11, Vol.55 (11), p.749-754
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Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Author / Creator:Klarov, Leonid A. ; Pshennikova, Vera G. ; Romanov, Georgii P. ; Cherdonova, Aleksandra M. ; Solovyev, Aisen V. ; Teryutin, Fedor M. ; Luginov, Nikolay V. ; Kotlyarov, Petr M. ; Barashkov, Nikolay A.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-12, Vol.23 (23), p.15372
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A Systematic Review and Meta-Analysis of Free Triiodothyronine (FT3) Levels in Humans Depending on Seasonal Air Temperature Changes: Is the Variation in FT3 Levels Related to Nonshivering Thermogenesi...
Author / Creator:Nikanorova, Alena ; Barashkov, Nikolay ; Pshennikova, Vera ; Teryutin, Fedor ; Nakhodkin, Sergey ; Solovyev, Aisen ; Romanov, Georgii ; Burtseva, Tatiana ; Fedorova, Sardana
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (18), p.14052
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The Role of Nonshivering Thermogenesis Genes on Leptin Levels Regulation in Residents of the Coldest Region of Siberia
Author / Creator:Nikanorova, Alena A. ; Barashkov, Nikolay A. ; Pshennikova, Vera G. ; Nakhodkin, Sergey S. ; Gotovtsev, Nyurgun N. ; Romanov, Georgii P. ; Solovyev, Aisen V. ; Kuzmina, Sargylana S. ; Sazonov, Nikolay N. ; Fedorova, Sardana A.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-04, Vol.22 (9), p.4657
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Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Author / Creator:Barashkov, Nikolay A. ; Konovalov, Fedor A. ; Borisova, Tuyara V. ; Teryutin, Fedor M. ; Solovyev, Aisen V. ; Pshennikova, Vera G. ; Sapojnikova, Nadejda V. ; Vychuzhina, Lyubov S. ; Romanov, Georgii P. ; Gotovtsev, Nyurgun N. ; Morozov, Igor V. ; Bondar, Alexander A. ; Platonov, Fedor A. ; Burtseva, Tatiana E. ; Khusnutdinova, Elza K. ; Posukh, Olga L. ; Fedorova, Sardana A.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.965-976
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A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
Author / Creator:Solovyev, Aisen V. ; Kushniarevich, Alena ; Bliznetz, Elena ; Bady-Khoo, Marita ; Lalayants, Maria R. ; Markova, Tatiana G. ; Minárik, Gabriel ; Kádasi, L’udevít ; Metspalu, Ene ; Pshennikova, Vera G. ; Teryutin, Fedor M. ; Khusnutdinova, Elza K. ; Poliakov, Alexander ; Metspalu, Mait ; Posukh, Olga L. ; Barashkov, Nikolay A. ; Fedorova, Sardana A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-04, Vol.141 (3-4), p.697-707
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Genotype–phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26)

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High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect

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The Evaluation of Significance of Uncoupling Protein Genes UCP1, UCP2, UCP3, UCP4, UCP5, and UCP6 in Human Adaptation to Cold Climates

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Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

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A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

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

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

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The attitude of young people in the city of Yakutsk to DNA-testing

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

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

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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)

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A serological survey of echinococcosis, toxocariasis and trichinellosis among rural inhabitants of Central Yakutia

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Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1GA splice site variant of the GJB2 gene

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Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

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Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

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A Systematic Review and Meta-Analysis of Free Triiodothyronine (FT3) Levels in Humans Depending on Seasonal Air Temperature Changes: Is the Variation in FT3 Levels Related to Nonshivering Thermogenesi...

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The Role of Nonshivering Thermogenesis Genes on Leptin Levels Regulation in Residents of the Coldest Region of Siberia

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

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

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