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Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Skoblov M, Krasovsky S, Petrova N, Polyakov A, Adyan T, Amelina E, Shadrina V, Zhekaite E, Zodbinova A, Chernyak A, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: polyakov a. Genes (Basel). 2021 May 28;12(6):837. doi: 10.3390/genes12060837. Genes (Basel). 2021. PMID: 34071719 Free PMC article.
Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.
Zinchenko RA, Kadyshev VV, El'chinova GI, Marakhonov AV, Galkina VA, Dadali EL, Khlebnikova OV, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Tanas AS, Strelnikov VV, Polyakov AV, Ginter EK. Zinchenko RA, et al. Among authors: polyakov av. Int J Mol Epidemiol Genet. 2018 Aug 20;9(4):34-42. eCollection 2018. Int J Mol Epidemiol Genet. 2018. PMID: 30245780 Free PMC article.
X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Milovidova TB, Schagina OA, Freire MV, Demina NA, Filatova AY, Skoblov MY, Stepanova AA, Chuhrova AL, Polyakov AV. Milovidova TB, et al. Among authors: polyakov av. J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e468-e470. doi: 10.1111/jdv.15798. Epub 2019 Jul 30. J Eur Acad Dermatol Venereol. 2019. PMID: 31306530 Free article. No abstract available.
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Zinchenko RA, Makaov AK, Marakhonov AV, Galkina VA, Kadyshev VV, El'chinova GI, Dadali EL, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Polyakov AV, Alexandrova OY, Kutsev SI, Ginter EK. Zinchenko RA, et al. Among authors: polyakov av. Int J Mol Sci. 2020 Jan 3;21(1):325. doi: 10.3390/ijms21010325. Int J Mol Sci. 2020. PMID: 31947737 Free PMC article.
Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Savostyanov KV, Pushkov AA, Shchagina OA, Maltseva VV, Suleymanov EA, Zhanin IS, Mazanova NN, Fisenko AP, Mishakova PS, Polyakov AV, Balanovska EV, Zinchenko RA, Tsygin AN. Savostyanov KV, et al. Among authors: polyakov av. Front Genet. 2022 Apr 28;13:863157. doi: 10.3389/fgene.2022.863157. eCollection 2022. Front Genet. 2022. PMID: 35571017 Free PMC article.
319 results