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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. 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. 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: barashkov na. 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. 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
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
Pshennikova VG, Barashkov NA, Romanov GP, Teryutin FM, Solov'ev AV, Gotovtsev NN, Nikanorova AA, Nakhodkin SS, Sazonov NN, Morozov IV, Bondar AA, Dzhemileva LU, Khusnutdinova EK, Posukh OL, Fedorova SA. Pshennikova VG, et al. Among authors: barashkov na. ScientificWorldJournal. 2019 Mar 20;2019:5198931. doi: 10.1155/2019/5198931. eCollection 2019. ScientificWorldJournal. 2019. PMID: 31015822 Free PMC article.
42 results