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Page 1
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.
Barashkov NA, Konovalov FA, Borisova TV, Teryutin FM, Solovyev AV, Pshennikova VG, Sapojnikova NV, Vychuzhina LS, Romanov GP, Gotovtsev NN, Morozov IV, Bondar AA, Platonov FA, Burtseva TE, Khusnutdinova EK, Posukh OL, Fedorova SA. Barashkov NA, et al. Among authors: teryutin fm. Eur J Hum Genet. 2021 Jun;29(6):965-976. doi: 10.1038/s41431-021-00833-w. Epub 2021 Mar 25. Eur J Hum Genet. 2021. PMID: 33767456 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: teryutin fm. 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: teryutin fm. 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: teryutin fm. PLoS One. 2016 May 25;11(5):e0156300. doi: 10.1371/journal.pone.0156300. eCollection 2016. PLoS One. 2016. PMID: 27224056 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: teryutin fm. 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: teryutin fm. ScientificWorldJournal. 2019 Mar 20;2019:5198931. doi: 10.1155/2019/5198931. eCollection 2019. ScientificWorldJournal. 2019. PMID: 31015822 Free PMC article.
A serological survey of echinococcosis, toxocariasis and trichinellosis among rural inhabitants of Central Yakutia.
Nakhodkin SS, Pshennikova VG, Dyachkovskaya PS, Barashkov NA, Nikanorova AA, Teryutin FM, Melnichuk OA, Crubézy E, Fedorova SA, Magnaval JF. Nakhodkin SS, et al. Among authors: teryutin fm. Int J Circumpolar Health. 2019 Dec;78(1):1603550. doi: 10.1080/22423982.2019.1603550. Int J Circumpolar Health. 2019. PMID: 31046654 Free PMC article.
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: teryutin fm. 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.
17 results