Prevalence of Significant Genetic Variants in Congenital Long QT Syndrome is Largely Underestimated

por Zaklyazminskaya, Elena V., Abriel, Hugues
Publicado 2012

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

por Polyak, Margarita E., Zaklyazminskaya, Elena V.
Publicado 2020

Editorial: Inherited Arrhythmias of the Cardiac Sodium Channel Na(v)1.5

por Amarouch, Mohamed-Yassine, Zaklyazminskaya, Elena V., Rougier, Jean-Sébastien
Publicado 2021

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

por Shestak, Anna G., Bukaeva, Anna A., Saber, Siamak, Zaklyazminskaya, Elena V.
Publicado 2021

Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time

por Blagova, Olga, Alieva, Indira, Kogan, Eugenia, Zaytsev, Alexander, Sedov, Vsevolod, Chernyavskiy, S., Surikova, Yulia, Kotov, Ilya, Zaklyazminskaya, Elena V.
Publicado 2020

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

por Shestak, Anna G., Makarov, Leonid M., Komoliatova, Vera N., Kolesnikova, Irina V., Skorodumova, Liubov O., Generozov, Edward V., Zaklyazminskaya, Elena V.
Publicado 2021

Complex genetic background in a large family with Brugada syndrome

por Saber, Siamak, Amarouch, Mohamed‐Yassine, Fazelifar, Amir‐Farjam, Haghjoo, Majid, Emkanjoo, Zahra, Alizadeh, Abolfath, Houshmand, Massoud, Gavrilenko, Alexander V., Abriel, Hugues, Zaklyazminskaya, Elena V.
Publicado 2015

Calmodulin binds to the N-terminal domain of the cardiac sodium channel Na(v)1.5

por Wang, Zizun, Vermij, Sarah H., Sottas, Valentin, Shestak, Anna, Ross-Kaschitza, Daniela, Zaklyazminskaya, Elena V., Hudmon, Andy, Pitt, Geoffrey S., Rougier, Jean-Sébastien, Abriel, Hugues
Publicado 2020

De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy

por Tsaturyan, Andrey K., Zaklyazminskaya, Elena V., Polyak, Margarita E., Kopylova, Galina V., Shchepkin, Daniil V., Kochurova, Anastasia M., Gonchar, Anastasiia D., Kleymenov, Sergey Y., Koubasova, Natalia A., Bershitsky, Sergey Y., Matyushenko, Alexander M., Levitsky, Dmitrii I.
Publicado 2022

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

por Matyushenko, Alexander M., Nefedova, Victoria V., Kochurova, Anastasia M., Kopylova, Galina V., Koubassova, Natalia A., Shestak, Anna G., Yampolskaya, Daria S., Shchepkin, Daniil V., Kleymenov, Sergey Y., Ryabkova, Natalia S., Katrukha, Ivan A., Bershitsky, Sergey Y., Zaklyazminskaya, Elena V., Tsaturyan, Andrey K., Levitsky, Dmitrii I.
Publicado 2023