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Page 1
NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL.
Irtyuga O, Malashicheva A, Zhiduleva E, Freylikhman O, Rotar O, Bäck M, Tarnovskaya S, Kostareva A, Moiseeva O. Irtyuga O, et al. Among authors: tarnovskaya s. Biomed Res Int. 2017;2017:6917907. doi: 10.1155/2017/6917907. Epub 2017 Jan 26. Biomed Res Int. 2017. PMID: 28246602 Free PMC article.
Progressive cardiac conduction disease associated with a DSP gene mutation.
Kiselev A, Mikhaylov E, Parmon E, Sjoberg G, Sejersen T, Tarnovskaya S, Nugnyi P, Mitrofanova L, Lebedev D, Kostareva A. Kiselev A, et al. Among authors: tarnovskaya s. Int J Cardiol. 2016 Aug 1;216:188-9. doi: 10.1016/j.ijcard.2016.04.164. Epub 2016 Apr 30. Int J Cardiol. 2016. PMID: 27166992 No abstract available.
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev A, Vaz R, Knyazeva A, Khudiakov A, Tarnovskaya S, Liu J, Sergushichev A, Kazakov S, Frishman D, Smolina N, Pervunina T, Jorholt J, Sjoberg G, Vershinina T, Rudenko D, Arner A, Sejersen T, Lindstrand A, Kostareva A. Kiselev A, et al. Among authors: tarnovskaya s. Hum Mutat. 2018 Sep;39(9):1161-1172. doi: 10.1002/humu.23559. Epub 2018 Jun 17. Hum Mutat. 2018. PMID: 29858533
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, Smolina N, Tarnovskaya S, Nilsson D, Zlotina A, Khodyuchenko T, Vershinina T, Pervunina T, Klyushina A, Kozlenok A, Sjoberg G, Golovljova I, Sejersen T, Shlyakhto E. Kostareva A, et al. Among authors: tarnovskaya s. PLoS One. 2016 Sep 23;11(9):e0163362. doi: 10.1371/journal.pone.0163362. eCollection 2016. PLoS One. 2016. PMID: 27662471 Free PMC article.
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: tarnovskaya s. 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.
Predicting novel disease mutations in the cardiac sodium channel.
Tarnovskaya SI, Korkosh VS, Zhorov BS, Frishman D. Tarnovskaya SI, et al. Biochem Biophys Res Commun. 2020 Jan 15;521(3):603-611. doi: 10.1016/j.bbrc.2019.10.142. Epub 2019 Oct 31. Biochem Biophys Res Commun. 2020. PMID: 31677787
Family-specific analysis of variant pathogenicity prediction tools.
Zaucha J, Heinzinger M, Tarnovskaya S, Rost B, Frishman D. Zaucha J, et al. Among authors: tarnovskaya s. NAR Genom Bioinform. 2020 Feb 28;2(2):lqaa014. doi: 10.1093/nargab/lqaa014. eCollection 2020 Jun. NAR Genom Bioinform. 2020. PMID: 33575576 Free PMC article.
21 results