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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: khusnutdinova ek. 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.
A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe.
Rootsi S, Zhivotovsky LA, Baldovic M, Kayser M, Kutuev IA, Khusainova R, Bermisheva MA, Gubina M, Fedorova SA, Ilumäe AM, Khusnutdinova EK, Voevoda MI, Osipova LP, Stoneking M, Lin AA, Ferak V, Parik J, Kivisild T, Underhill PA, Villems R. Rootsi S, et al. Among authors: khusnutdinova ek. Eur J Hum Genet. 2007 Feb;15(2):204-11. doi: 10.1038/sj.ejhg.5201748. Epub 2006 Dec 6. Eur J Hum Genet. 2007. PMID: 17149388
An STR database on the Volga-Ural population.
Zhivotovsky LA, Akhmetova VL, Fedorova SA, Zhirkova VV, Khusnutdinova EK. Zhivotovsky LA, et al. Among authors: khusnutdinova ek. Forensic Sci Int Genet. 2009 Sep;3(4):e133-6. doi: 10.1016/j.fsigen.2008.11.001. Epub 2008 Dec 23. Forensic Sci Int Genet. 2009. PMID: 19647699
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: khusnutdinova ek. 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
Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia.
Fedorova SA, Reidla M, Metspalu E, Metspalu M, Rootsi S, Tambets K, Trofimova N, Zhadanov SI, Hooshiar Kashani B, Olivieri A, Voevoda MI, Osipova LP, Platonov FA, Tomsky MI, Khusnutdinova EK, Torroni A, Villems R. Fedorova SA, et al. Among authors: khusnutdinova ek. BMC Evol Biol. 2013 Jun 19;13:127. doi: 10.1186/1471-2148-13-127. BMC Evol Biol. 2013. PMID: 23782551 Free PMC article.
Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans.
Raghavan M, Skoglund P, Graf KE, Metspalu M, Albrechtsen A, Moltke I, Rasmussen S, Stafford TW Jr, Orlando L, Metspalu E, Karmin M, Tambets K, Rootsi S, Mägi R, Campos PF, Balanovska E, Balanovsky O, Khusnutdinova E, Litvinov S, Osipova LP, Fedorova SA, Voevoda MI, DeGiorgio M, Sicheritz-Ponten T, Brunak S, Demeshchenko S, Kivisild T, Villems R, Nielsen R, Jakobsson M, Willerslev E. Raghavan M, et al. Nature. 2014 Jan 2;505(7481):87-91. doi: 10.1038/nature12736. Epub 2013 Nov 20. Nature. 2014. PMID: 24256729 Free PMC article.
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: khusnutdinova ek. PLoS One. 2014 Jun 24;9(6):e100848. doi: 10.1371/journal.pone.0100848. eCollection 2014. PLoS One. 2014. PMID: 24959830 Free PMC article.
297 results