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LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.
Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D, Mazurkiewicz L, Malek L, Walczak E, Fidzianska A, Grzybowski J, Przybylski A, Zielinski T, Korewicki J, Tesson F, Ploski R. Saj M, et al. BMC Med Genet. 2013 May 23;14:55. doi: 10.1186/1471-2350-14-55. BMC Med Genet. 2013. PMID: 23702046 Free PMC article.
Cardiac amyloidosis diagnosed by endomyocardial biopsy. Clinical, histopathological, immunohistochemical and ultrastructural studies.
Prochorec-Sobieszek M, Bilińska ZT, Grzybowski J, Michalak E, Jakubowska E, Sobieszczańska-Małek M, Deptuch T, Walczak E, Wagner T, Walski M, Rózański J, Kiedrowski M, Lubiszewska B, Hoffman P, Rózyłło W. Prochorec-Sobieszek M, et al. Kardiol Pol. 2005 Jul;63(7):20-35. Kardiol Pol. 2005. PMID: 16136426 English, Polish.
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
Franaszczyk M, Bilinska ZT, Sobieszczańska-Małek M, Michalak E, Sleszycka J, Sioma A, Małek ŁA, Kaczmarska D, Walczak E, Włodarski P, Hutnik Ł, Milanowska B, Dzielinska Z, Religa G, Grzybowski J, Zieliński T, Ploski R. Franaszczyk M, et al. J Transl Med. 2014 Jul 9;12:192. doi: 10.1186/1479-5876-12-192. J Transl Med. 2014. PMID: 25008357 Free PMC article.
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
Franaszczyk M, Chmielewski P, Truszkowska G, Stawinski P, Michalak E, Rydzanicz M, Sobieszczanska-Malek M, Pollak A, Szczygieł J, Kosinska J, Parulski A, Stoklosa T, Tarnowska A, Machnicki MM, Foss-Nieradko B, Szperl M, Sioma A, Kusmierczyk M, Grzybowski J, Zielinski T, Ploski R, Bilinska ZT. Franaszczyk M, et al. PLoS One. 2017 Jan 3;12(1):e0169007. doi: 10.1371/journal.pone.0169007. eCollection 2017. PLoS One. 2017. PMID: 28045975 Free PMC article.
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R. Truszkowska GT, et al. BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0. BMC Med Genet. 2015. PMID: 25928149 Free PMC article.
A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family.
Michalak E, Franaszczyk M, Sobieszczanska-Malek M, Karcz M, Szymanska S, Szczygiel J, Lutynska A, Ploski R, Bilinska ZT. Michalak E, et al. Among authors: sobieszczanska malek m. Arch Med Sci. 2019 Oct 9;16(6):1464-1469. doi: 10.5114/aoms.2019.88610. eCollection 2020. Arch Med Sci. 2019. PMID: 33224350 Free PMC article. No abstract available.
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment.
Chmielewski P, Truszkowska G, Kowalik I, Rydzanicz M, Michalak E, Sobieszczańska-Małek M, Franaszczyk M, Stawiński P, Stępień-Wojno M, Oręziak A, Lewandowski M, Leszek P, Bilińska M, Zieliński T, Płoski R, Bilińska ZT. Chmielewski P, et al. Among authors: sobieszczanska malek m. Diagnostics (Basel). 2021 Dec 22;12(1):13. doi: 10.3390/diagnostics12010013. Diagnostics (Basel). 2021. PMID: 35054181 Free PMC article.
57 results