Zaklyazminskaya EV - Search Results

1

De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.

Tsaturyan AK, Zaklyazminskaya EV, Polyak ME, Kopylova GV, Shchepkin DV, Kochurova AM, Gonchar AD, Kleymenov SY, Koubasova NA, Bershitsky SY, Matyushenko AM, Levitsky DI. Tsaturyan AK, et al. Among authors: zaklyazminskaya ev. Int J Mol Sci. 2022 Dec 20;24(1):18. doi: 10.3390/ijms24010018. Int J Mol Sci. 2022. PMID: 36613463 Free PMC article.

2

A modern approach to classify missense mutations in cardiac channelopathy genes.

Abriel H, Zaklyazminskaya EV. Abriel H, et al. Among authors: zaklyazminskaya ev. Circ Cardiovasc Genet. 2012 Oct 1;5(5):487-9. doi: 10.1161/CIRCGENETICS.112.964809. Circ Cardiovasc Genet. 2012. PMID: 23074335 No abstract available.

3

Cardiac channelopathies: genetic and molecular mechanisms.

Abriel H, Zaklyazminskaya EV. Abriel H, et al. Among authors: zaklyazminskaya ev. Gene. 2013 Mar 15;517(1):1-11. doi: 10.1016/j.gene.2012.12.061. Epub 2012 Dec 22. Gene. 2013. PMID: 23266818 Review.

4

[Myocardial Crypt of the Left Ventricle Combined With Barlows syndrome].

Dzemeshkevich SL, Sinitsyn VE, Frolova YV, Fedulova SV, Zaklyazminskaya EV, Bukaeva AA, Tarasov DG, Malikova MS, Dombrovskaya AV, Polyak ME. Dzemeshkevich SL, et al. Among authors: zaklyazminskaya ev. Kardiologiia. 2016 Dec;56(11):101-103. doi: 10.18565/cardio.2016.11.101-103. Kardiologiia. 2016. PMID: 28290825 Russian.

5

Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.

Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Surikova Y, et al. Gene. 2019 May 20;697:159-164. doi: 10.1016/j.gene.2019.02.011. Epub 2019 Feb 19. Gene. 2019. PMID: 30794915

6

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.

Polyak ME, Zaklyazminskaya EV. Polyak ME, et al. Among authors: zaklyazminskaya ev. BMC Med Genet. 2020 Apr 6;21(1):73. doi: 10.1186/s12881-020-01001-5. BMC Med Genet. 2020. PMID: 32252658 Free PMC article.

7

Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome.

Polyak ME, Shestak A, Podolyak D, Zaklyazminskaya E. Polyak ME, et al. BMJ Case Rep. 2020 Aug 25;13(8):e235703. doi: 10.1136/bcr-2020-235703. BMJ Case Rep. 2020. PMID: 32843460 Free PMC article.

8

[Dilated phase of hypertrophic cardiomyopathy: high-risk reconstructive surgery as an alternative to heart transplantation].

Dzemeshkevich SL, Motreva AP, Kalmykova OV, Martyanova YB, Tarasov DG, Dombrovskaya AV, Zaklyazminskaya EV. Dzemeshkevich SL, et al. Among authors: zaklyazminskaya ev. Khirurgiia (Mosk). 2021;(6. Vyp. 2):31-36. doi: 10.17116/hirurgia202106231. Khirurgiia (Mosk). 2021. PMID: 34032786 Russian.

9

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.

Zaklyazminskaya E, Polyak M, Shestak A, Sadekova M, Komoliatova V, Kiseleva I, Makarov L, Podolyak D, Glukhov G, Zhang H, Abramochkin D, Sokolova OS. Zaklyazminskaya E, et al. Genes (Basel). 2022 Mar 22;13(4):559. doi: 10.3390/genes13040559. Genes (Basel). 2022. PMID: 35456365 Free PMC article.

10

Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome.

Karlova M, Abramochkin DV, Pustovit KB, Nesterova T, Novoseletsky V, Loussouarn G, Zaklyazminskaya E, Sokolova OS. Karlova M, et al. Int J Mol Sci. 2022 Jul 19;23(14):7953. doi: 10.3390/ijms23147953. Int J Mol Sci. 2022. PMID: 35887302 Free PMC article.

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