Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Margarita E. Polyak"'
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolism. Mutations in the
Externí odkaz:
https://doaj.org/article/da72a02d26ee4da19edf87a0f6ed54a9
Autor:
Andrey K. Tsaturyan, Elena V. Zaklyazminskaya, Margarita E. Polyak, Galina V. Kopylova, Daniil V. Shchepkin, Anastasia M. Kochurova, Anastasiia D. Gonchar, Sergey Y. Kleymenov, Natalia A. Koubasova, Sergey Y. Bershitsky, Alexander M. Matyushenko, Dmitrii I. Levitsky
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 1, p 18 (2022)
Hypertrophic cardiomyopathy (HCM), caused by mutations in thin filament proteins, manifests as moderate cardiac hypertrophy and is associated with sudden cardiac death (SCD). We identified a new de novo variant, c.656A>T (p.D219V), in the TPM1 gene e
Externí odkaz:
https://doaj.org/article/704b483c0e124b21aa087f489247a683
Publikováno v:
BMJ Case Rep
Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the KCNJ2 gene. Patients with ATS present with episodes of muscle weakn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f441d7aafadae38ce77db2f1f099a73
https://doi.org/10.1136/bcr-2020-235703
https://doi.org/10.1136/bcr-2020-235703
Autor:
Margarita E. Polyak, Mikhail Skoblov, Alexandra Filatova, Yulia Surikova, Elena Zaklyazminskaya
Publikováno v:
Gene. 697
Mutations in the MYH7 gene are the source of an allelic series of diseases, including various cardiomyopathies and skeletal myopathies that usually manifest in adulthood. We observed a 1.5 y.o. male patient with congenital weaknesses of the axial mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f130e6c21d138735bc0bc863f5ba01
https://pubmed.ncbi.nlm.nih.gov/30794915
https://pubmed.ncbi.nlm.nih.gov/30794915
Autor:
Dzemeshkevich Sl, Margarita E. Polyak, L.B. Mitrofanova, A. A. Bukaeva, E. Zaklyazminskaya, Elena Mershina, Olga Blagova
Publikováno v:
European Heart Journal. 38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7ab354964bc5cc051067d26f45917d7
https://doi.org/10.1093/eurheartj/ehx493.p6182
https://doi.org/10.1093/eurheartj/ehx493.p6182
Publikováno v:
Molecular Genetics and Metabolism. 120:S143-S144
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4728b83fe06cc9100d201f35cf050cee
https://doi.org/10.1016/j.ymgme.2016.11.382
https://doi.org/10.1016/j.ymgme.2016.11.382