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Page 1
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
J Pers Med. 2022 Nov 4;12(11):1843. doi: 10.3390/jpm12111843.
J Pers Med. 2022.
PMID: 36579563
Free PMC article.
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
Gundorova P, Zinchenko RA, Kuznetsova IA, Bliznetz EA, Stepanova AA, Polyakov AV.
Gundorova P, et al. Among authors: bliznetz ea.
PLoS One. 2018 Aug 1;13(8):e0201489. doi: 10.1371/journal.pone.0201489. eCollection 2018.
PLoS One. 2018.
PMID: 30067850
Free PMC article.
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Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O, Galeeva N, Stepanova A, Markova T, Lalayants M, Alekseeva N, Tavarkiladze G, Markova T, Bessonova L, Petukhova M, Guseva D, Anisimova I, Polyakov A, Ryzhkova O, Bliznetz E.
Shatokhina O, et al. Among authors: bliznetz e.
Int J Mol Sci. 2022 Dec 12;23(24):15748. doi: 10.3390/ijms232415748.
Int J Mol Sci. 2022.
PMID: 36555390
Free PMC article.
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A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Solovyev AV, Kushniarevich A, Bliznetz E, Bady-Khoo M, Lalayants MR, Markova TG, Minárik G, Kádasi L, Metspalu E, Pshennikova VG, Teryutin FM, Khusnutdinova EK, Poliakov A, Metspalu M, Posukh OL, Barashkov NA, Fedorova SA.
Solovyev AV, et al. Among authors: bliznetz e.
Hum Genet. 2022 Apr;141(3-4):697-707. doi: 10.1007/s00439-021-02405-w. Epub 2021 Nov 27.
Hum Genet. 2022.
PMID: 34839402
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Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).
Knappskog S, Gansmo LB, Dibirova K, Metspalu A, Cybulski C, Peterlongo P, Aaltonen L, Vatten L, Romundstad P, Hveem K, Devilee P, Evans GD, Lin D, Van Camp G, Manolopoulos VG, Osorio A, Milani L, Ozcelik T, Zalloua P, Mouzaya F, Bliznetz E, Balanovska E, Pocheshkova E, Kučinskas V, Atramentova L, Nymadawa P, Titov K, Lavryashina M, Yusupov Y, Bogdanova N, Koshel S, Zamora J, Wedge DC, Charlesworth D, Dörk T, Balanovsky O, Lønning PE.
Knappskog S, et al. Among authors: bliznetz e.
Oncotarget. 2014 Sep 30;5(18):8223-34. doi: 10.18632/oncotarget.1910.
Oncotarget. 2014.
PMID: 25327560
Free PMC article.
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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.
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.
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Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV.
Bliznetz EA, et al.
Eur J Hum Genet. 2009 May;17(5):664-72. doi: 10.1038/ejhg.2008.234. Epub 2009 Jan 28.
Eur J Hum Genet. 2009.
PMID: 19172990
Free PMC article.
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