Polyakov AV - Search Results

1

BH4-deficient hyperphenylalaninemia in Russia.

Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV. Gundorova P, et al. Among authors: polyakov av. PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021. PLoS One. 2021. PMID: 33822819 Free PMC article.

2

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: polyakov av. PLoS One. 2018 Aug 1;13(8):e0201489. doi: 10.1371/journal.pone.0201489. eCollection 2018. PLoS One. 2018. PMID: 30067850 Free PMC article.

3

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Gundorova P, Stepanova AA, Kuznetsova IA, Kutsev SI, Polyakov AV. Gundorova P, et al. Among authors: polyakov av. PLoS One. 2019 Jan 22;14(1):e0211048. doi: 10.1371/journal.pone.0211048. eCollection 2019. PLoS One. 2019. PMID: 30668579 Free PMC article.

4

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Kuznetcova I, Gundorova P, Ryzhkova O, Polyakov A. Kuznetcova I, et al. Metab Brain Dis. 2019 Dec;34(6):1547-1555. doi: 10.1007/s11011-019-00461-w. Epub 2019 Jul 22. Metab Brain Dis. 2019. PMID: 31332730

5

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Zinina E, et al. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.

6

Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072. Biomedicines. 2023. PMID: 38255179 Free PMC article.

7

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. Among authors: polyakov av. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.

8

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Petrova NV, Kashirskaya NY, Saydaeva DK, Polyakov AV, Adyan TA, Simonova OI, Gorinova YV, Kondratyeva EI, Sherman VD, Novoselova OG, Vasilyeva TA, Marakhonov AV, Macek M Jr, Ginter EK, Zinchenko RA. Petrova NV, et al. Among authors: polyakov av. BMC Med Genet. 2019 Mar 21;20(1):44. doi: 10.1186/s12881-019-0785-z. BMC Med Genet. 2019. PMID: 30898088 Free PMC article.

9

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Shchagina O, et al. Int J Mol Sci. 2022 Aug 24;23(17):9576. doi: 10.3390/ijms23179576. Int J Mol Sci. 2022. PMID: 36076978 Free PMC article.

10

Spectrum of Mutations in PTPN11 in Russian Cohort.

Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O. Orlova A, et al. Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345. Genes (Basel). 2024. PMID: 38540404 Free PMC article.

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