日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Case Report: Loss-of-function TRPM4 mutation p.L91Δ implicated in progressive cardiac conduction defect

病例报告:TRPM4 功能缺失突变 p.L91Δ 与进行性心脏传导缺陷相关

Anne-Flore Hämmerli,Daniela Ross-Kaschitza,Prakash Arullampalam,Anna Shestak,Jimmy Jyh-Ming Juang,Nada El Makhzen,Bianca Sol Soloaga Ricciardi,Alexandre François Edmond Bokhobza,Jean-Sébastien Rougier,Elena V Zaklyazminskaya,Jacek Gajek,Can Hasdemir,Hugues Abriel

Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site.

内皮糖蛋白(ENG)基因的等位基因缺失是由引物结合位点之外的常见重复引起的

Shestak Anna G, Rumyantseva Victoria A, Zaklyazminskaya Elena V

Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation

心脏原肌球蛋白的新突变 Glu98Lys 改变其结构并损害心肌舒张

Alexander M Matyushenko, Victoria V Nefedova, Anastasia M Kochurova, Galina V Kopylova, Natalia A Koubassova, Anna G Shestak, Daria S Yampolskaya, Daniil V Shchepkin, Sergey Y Kleymenov, Natalia S Ryabkova, Ivan A Katrukha, Sergey Y Bershitsky, Elena V Zaklyazminskaya, Andrey K Tsaturyan, Dmitrii I

Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome

对俄罗斯布鲁加达综合征患者中编码Nav1.5通道基因的诊断率和变异重新评估

Zaklyazminskaya, Elena; Shestak, Anna; Podolyak, Dmitry; Komoliatova, Vera; Makarov, Leonid; Novitskaya, Anna; Revishvili, Amiran

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

俄罗斯长 QT 综合征患者 Kir2.1 罕见变异的临床表现各异

Elena Zaklyazminskaya, Margarita Polyak, Anna Shestak, Mariam Sadekova, Vera Komoliatova, Irina Kiseleva, Leonid Makarov, Dmitriy Podolyak, Grigory Glukhov, Han Zhang, Denis Abramochkin, Olga S Sokolova

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation

SCN5A基因典型和非典型外显子中两种罕见遗传变异的共存:一个潜在的误解来源

Shestak, Anna G; Makarov, Leonid M; Komoliatova, Vera N; Kolesnikova, Irina V; Skorodumova, Liubov O; Generozov, Edward V; Zaklyazminskaya, Elena V

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels

等位基因丢失是一种常见现象,会降低基于 PCR 的目标基因组测序的诊断产量

Anna G Shestak, Anna A Bukaeva, Siamak Saber, Elena V Zaklyazminskaya

Clinical Classification of Arrhythmogenic Right Ventricular Cardiomyopathy

致心律失常性右室心肌病的临床分类

Lutokhina, Yulia; Blagova, Olga; Nedostup, Alexander; Alexandrova, Svetlana; Shestak, Anna; Zaklyazminskaya, Elena

A Simple Protocol for the Determination of Lysostaphin Enzymatic Activity

测定溶菌酶活性的简易方法

Grishin, Alexander V; Konstantinova, Svetlana V; Vasina, Irina V; Shestak, Nikita V; Karyagina, Anna S; Lunin, Vladimir G

Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome

俄罗斯布鲁格达综合征患者线粒体 DNA 单倍群 J 和 T 与临床表现缺乏关联

Maria Golubenko, Vadim Mikhailov, Valeria Rusinova, Anna Shestak, Elena Zaklyazminskaya