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Page 1
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A, Vershinina T, Tesner P, Sjoberg G, Fomicheva Y, Čajbiková NN, Kozyreva A, Zhuk S, Mamaeva E, Tarnovskaya S, Jornholt J, Sokolnikova P, Pervunina T, Vasichkina E, Sejersen T, Kostareva A. Muravyev A, et al. Among authors: vasichkina e. Orphanet J Rare Dis. 2022 Sep 14;17(1):358. doi: 10.1186/s13023-022-02477-5. Orphanet J Rare Dis. 2022. PMID: 36104822 Free PMC article.
Sodium current abnormalities and deregulation of Wnt/β-catenin signaling in iPSC-derived cardiomyocytes generated from patient with arrhythmogenic cardiomyopathy harboring compound genetic variants in plakophilin 2 gene.
Khudiakov A, Zaytseva A, Perepelina K, Smolina N, Pervunina T, Vasichkina E, Karpushev A, Tomilin A, Malashicheva A, Kostareva A. Khudiakov A, et al. Among authors: vasichkina e. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165915. doi: 10.1016/j.bbadis.2020.165915. Epub 2020 Aug 6. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32768677 Free article.
Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.
Vershinina T, Fomicheva Y, Muravyev A, Jorholt J, Kozyreva A, Kiselev A, Gordeev M, Vasichkina E, Segrushichev A, Pervunina T, Sjoberg G, Skyttner-Rahmani S, Sejersen T, Kostareva A. Vershinina T, et al. Among authors: vasichkina e. Cardiology. 2020;145(11):746-756. doi: 10.1159/000510439. Epub 2020 Oct 13. Cardiology. 2020. PMID: 33049752
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Jorholt J, Formicheva Y, Vershinina T, Kiselev A, Muravyev A, Demchenko E, Fedotov P, Zlotina A, Rygkov A, Vasichkina E, Sejersen T, Kostareva A. Jorholt J, et al. Among authors: vasichkina e. Genes (Basel). 2020 Oct 15;11(10):1201. doi: 10.3390/genes11101201. Genes (Basel). 2020. PMID: 33076350 Free PMC article.
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A, Melnik O, Fomicheva Y, Skitchenko R, Sergushichev A, Shagimardanova E, Gusev O, Gazizova G, Loevets T, Vershinina T, Kozyrev I, Gordeev M, Vasichkina E, Pervunina T, Kostareva A. Zlotina A, et al. Among authors: vasichkina e. BMC Med Genomics. 2020 Nov 20;13(1):175. doi: 10.1186/s12920-020-00821-x. BMC Med Genomics. 2020. PMID: 33218365 Free PMC article.
RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.
Vakhrushev Y, Kozyreva A, Semenov A, Sokolnikova P, Lubimtseva T, Lebedev D, Smolina N, Zhuk S, Mitrofanova L, Vasichkina E, Kostareva A. Vakhrushev Y, et al. Among authors: vasichkina e. Genes (Basel). 2021 Jan 13;12(1):94. doi: 10.3390/genes12010094. Genes (Basel). 2021. PMID: 33450993 Free PMC article.
Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children.
Kovalchuk T, Yakovleva E, Fetisova S, Vershinina T, Lebedeva V, Lyubimtseva T, Lebedev D, Mitrofanova L, Ryzhkov A, Sokolnikova P, Fomicheva Y, Kozyreva A, Zhuk S, Smolina N, Zlotina A, Pervunina T, Kostareva A, Vasichkina E. Kovalchuk T, et al. Among authors: vasichkina e. Front Cardiovasc Med. 2021 May 7;8:668231. doi: 10.3389/fcvm.2021.668231. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34026875 Free PMC article.
Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.
Mikhailova VB, Karpushev AV, Vavilova VD, Klimenko ES, Tulintseva T, Yudina YS, Vasichkina ES, Zhorov BS, Kostareva A. Mikhailova VB, et al. Among authors: vasichkina es. Cardiology. 2022;147(1):35-46. doi: 10.1159/000519857. Epub 2021 Oct 8. Cardiology. 2022. PMID: 34628415 Free article.
Case Report: COVID-19-Associated ROHHAD-Like Syndrome.
Artamonova IN, Petrova NA, Lyubimova NA, Kolbina NY, Bryzzhin AV, Borodin AV, Levko TA, Mamaeva EA, Pervunina TM, Vasichkina ES, Nikitina IL, Zlotina AM, Efimtsev AY, Kostik MM. Artamonova IN, et al. Among authors: vasichkina es. Front Pediatr. 2022 Mar 31;10:854367. doi: 10.3389/fped.2022.854367. eCollection 2022. Front Pediatr. 2022. PMID: 35433531 Free PMC article.
21 results