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Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.
Barashkov NA, Teryutin FM, Pshennikova VG, Solovyev AV, Klarov LA, Solovyeva NA, Kozhevnikov AA, Vasilyeva LM, Fedotova EE, Pak MV, Lekhanova SN, Zakharova EV, Savvinova KE, Gotovtsev NN, Rafailo AM, Luginov NV, Alexeev AN, Posukh OL, Dzhemileva LU, Khusnutdinova EK, Fedorova SA. Barashkov NA, et al. Among authors: solovyev av. PLoS One. 2014 Jun 24;9(6):e100848. doi: 10.1371/journal.pone.0100848. eCollection 2014. PLoS One. 2014. PMID: 24959830 Free PMC article.
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: solovyev na, solovyev av. PLoS One. 2016 May 25;11(5):e0156300. doi: 10.1371/journal.pone.0156300. eCollection 2016. PLoS One. 2016. PMID: 27224056 Free PMC article.
Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations.
Solovyev AV, Dzhemileva LU, Posukh OL, Barashkov NA, Bady-Khoo MS, Lobov SL, Popova NY, Romanov GP, Sazonov NN, Bondar AA, Morozov IV, Tomsky MI, Fedorova SA, Khusnutdinova EK. Solovyev AV, et al. J Community Genet. 2017 Jul;8(3):167-171. doi: 10.1007/s12687-017-0299-3. Epub 2017 Mar 21. J Community Genet. 2017. PMID: 28324246 Free PMC article.
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).
Barashkov NA, Klarov LA, Teryutin FM, Solovyev AV, Pshennikova VG, Konnikova EE, Romanov GP, Tobokhov AV, Morozov IV, Bondar AA, Posukh OL, Dzhemileva LU, Tomsky MI, Khusnutdinova EK, Fedorova SA. Barashkov NA, et al. Among authors: solovyev av. Int J Pediatr Otorhinolaryngol. 2018 Jan;104:94-97. doi: 10.1016/j.ijporl.2017.11.001. Epub 2017 Nov 6. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29287890
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: solovyev av. 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.
The Role of Leptin Levels in Adaptation to Cold Climates.
Nikanorova AA, Barashkov NA, Nakhodkin SS, Pshennikova VG, Solovyev AV, Romanov GP, Kuzmina SS, Sazonov NN, Burtseva TE, Odland JØ, Fedorova SA. Nikanorova AA, et al. Among authors: solovyev av. Int J Environ Res Public Health. 2020 Mar 12;17(6):1854. doi: 10.3390/ijerph17061854. Int J Environ Res Public Health. 2020. PMID: 32178438 Free PMC article.
37 results