Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Grazyna Truszkowska"'
Autor:
Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169007 (2017)
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDC
Externí odkaz:
https://doaj.org/article/a7449ce52b3946ebbf1c3eeabdef0c62
Autor:
Magda Franke, Tomasz Marcin Książczyk, Marta Dux, Przemysław Chmielewski, Grażyna Truszkowska, Dorota Czapczak, Radosław Pietrzak, Zofia Teresa Bilinska, Urszula Demkow, Bożena Werner
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500–1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. MYH7 gene encoding a myosin heavy chain beta, together w
Externí odkaz:
https://doaj.org/article/17e17583586a41ed91ccb31339f08a80
Autor:
Joanna Kinga Ponińska, Zofia Teresa Bilińska, Grażyna Truszkowska, Ewa Michalak, Anna Podgórska, Małgorzata Stępień-Wojno, Przemysław Chmielewski, Anna Lutyńska, Rafał Płoski
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-10 (2022)
Abstract Background The identification of pathogenic variant in patients with thoracic aortic aneurysms and dissections (TAAD) was previously found to be a significant indicator pointing to earlier need for surgical intervention. In order to evaluate
Externí odkaz:
https://doaj.org/article/9c16d1fa51904f1388d4e3a3569c0437
Autor:
Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski, Maria Bilińska
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contract
Externí odkaz:
https://doaj.org/article/41bbbe30f94c4b549549505b61a0d2a1
Autor:
Przemysław Chmielewski, Grażyna Truszkowska, Ilona Kowalik, Małgorzata Rydzanicz, Ewa Michalak, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Piotr Stawiński, Małgorzata Stępień-Wojno, Artur Oręziak, Michał Lewandowski, Przemysław Leszek, Maria Bilińska, Tomasz Zieliński, Rafał Płoski, Zofia T. Bilińska
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 13 (2021)
Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early
Externí odkaz:
https://doaj.org/article/54e9724ff6f042be80dc9073f8cf5bb3
Autor:
Agnieszka Ługowska, Joanna K. Purzycka-Olewiecka, Rafał Płoski, Grażyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Śpiewak, Aleksandra Podlecka-Piętowska, Martyna Sitek, Zofia T. Bilińska, Przemysław Leszek, Małgorzata Bednarska-Makaruk
Publikováno v:
Life, Vol 12, Iss 1, p 3 (2021)
We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of a
Externí odkaz:
https://doaj.org/article/d76e2f46eaf448258d98081a03af4459