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Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA, Lalayants MR, Markova TG, Balanovsky OP, Balanovska EV, Skhalyakho RA, Pocheshkhova EA, Nikitina NV, Voronin SV, Kudryashova EK, Glotov OS, Polyakov AV. Bliznetz EA, et al. Among authors: polyakov av. J Hum Genet. 2017 Aug;62(8):789-795. doi: 10.1038/jhg.2017.42. Epub 2017 Apr 13. J Hum Genet. 2017. PMID: 28405014 Free PMC article.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: polyakov av. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
[Epidemiology of hearing loss in children of the first year of life].
Chibisova SS, Markova TG, Alekseeva NN, Yasinskaya AA, Tsygankova ER, Bliznetz EA, Polyakov AV, Tavartkiladze GA. Chibisova SS, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2018;83(4):37-42. doi: 10.17116/otorino201883437. Vestn Otorinolaringol. 2018. PMID: 30113578 Russian.
[The analysis of the association of the polymorphic variants of the TPMT, COMT, and ABCC3 genes with the development of hearing disorders induced by the cisplatin treatment].
Mironovich OL, Bliznetz EA, Garbaruk ES, Belogurova MB, Subora NV, Varfolomeeva SR, Kachanov DY, Shamanskaya TV, Markova TG, Polyakov AV. Mironovich OL, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2018;83(4):60-66. doi: 10.17116/otorino201883460. Vestn Otorinolaringol. 2018. PMID: 30113582 Russian.
[OTOF-related auditory neuropathy spectrum disorder].
Lalayants MR, Mironovich OL, Bliznets EA, Markova TG, Polyakov AV, Tavartkiladze GA. Lalayants MR, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2020;85(2):21-25. doi: 10.17116/otorino20208502121. Vestn Otorinolaringol. 2020. PMID: 32476384 Russian.
321 results