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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: posukh ol. 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: 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.
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K, Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F, Bravi CM, Brisighelli F, Busby GB, Cali F, Churnosov M, Cole DE, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M, Hammer M, Henn BM, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kučinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T, Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler CA, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Tho… See abstract for full author list ➔ Lazaridis I, et al. Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673. Nature. 2014. PMID: 25230663 Free PMC article.
57 results