Kutsev S - Search Results

1

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Shchagina O, Murtazina A, Chausova P, Orlova M, Dadali E, Kurbatov S, Kutsev S, Polyakov A. Shchagina O, et al. Among authors: kutsev s. Front Genet. 2024 Jun 6;15:1381915. doi: 10.3389/fgene.2024.1381915. eCollection 2024. Front Genet. 2024. PMID: 38903759 Free PMC article.

2

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. BMC Med Genomics. 2018 Feb 13;11(Suppl 1):8. doi: 10.1186/s12920-018-0326-1. BMC Med Genomics. 2018. PMID: 29504900 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. 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

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. Int J Mol Sci. 2020 Jan 3;21(1):325. doi: 10.3390/ijms21010325. Int J Mol Sci. 2020. PMID: 31947737 Free PMC article.

5

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z. BMC Med Genet. 2020. PMID: 33092543 Free PMC article.

6

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: kutsev si. PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021. PLoS One. 2021. PMID: 33822819 Free PMC article.

7

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Petrova N, Balinova N, Marakhonov A, Vasilyeva T, Kashirskaya N, Galkina V, Ginter E, Kutsev S, Zinchenko R. Petrova N, et al. Among authors: kutsev s. Front Genet. 2021 Jun 16;12:678374. doi: 10.3389/fgene.2021.678374. eCollection 2021. Front Genet. 2021. PMID: 34220950 Free PMC article.

8

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.

Zinchenko RA, Ginter EK, Marakhonov AV, Petrova NV, Kadyshev VV, Vasilyeva TP, Alexandrova OU, Polyakov AV, Kutsev SI. Zinchenko RA, et al. Front Genet. 2021 Aug 30;12:678957. doi: 10.3389/fgene.2021.678957. eCollection 2021. Front Genet. 2021. PMID: 34527017 Free PMC article.

9

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S. Markova T, et al. Among authors: kutsev s. Genes (Basel). 2022 Jan 13;13(1):137. doi: 10.3390/genes13010137. Genes (Basel). 2022. PMID: 35052477 Free PMC article.

10

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S. Markova T, et al. Among authors: kutsev s. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.

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