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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.
Romanov GP, Smirnova AA, Zamyatin VI, Mukhin AM, Kazantsev FV, Pshennikova VG, Teryutin FM, Solovyev AV, Fedorova SA, Posukh OL, Lashin SA, Barashkov NA. Romanov GP, et al. Among authors: posukh ol. Biology (Basel). 2022 Feb 7;11(2):257. doi: 10.3390/biology11020257. Biology (Basel). 2022. PMID: 35205123 Free PMC article.
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.
Barashkov NA, Dzhemileva LU, Fedorova SA, Teryutin FM, Posukh OL, Fedotova EE, Lobov SL, Khusnutdinova EK. Barashkov NA, et al. Among authors: posukh ol. J Hum Genet. 2011 Sep;56(9):631-9. doi: 10.1038/jhg.2011.72. Epub 2011 Jul 21. J Hum Genet. 2011. PMID: 21776002
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: posukh ol. 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: 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.
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. Among authors: posukh ol. 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: posukh ol. 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
57 results