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Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK, Bilińska ZT, Truszkowska G, Michalak E, Podgórska A, Stępień-Wojno M, Chmielewski P, Lutyńska A, Płoski R. Ponińska JK, et al. Among authors: ploski r. J Transl Med. 2022 Jan 25;20(1):42. doi: 10.1186/s12967-022-03251-8. J Transl Med. 2022. PMID: 35078481 Free PMC article.
Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort.
Ponińska J, Samoliński B, Tomaszewska A, Raciborski F, Samel-Kowalik P, Walkiewicz A, Lipiec A, Piekarska B, Komorowski J, Krzych-Fałta E, Namysłowski A, Borowicz J, Kostrzewa G, Majewski S, Płoski R. Ponińska J, et al. Among authors: ploski r. PLoS One. 2011 Feb 18;6(2):e16933. doi: 10.1371/journal.pone.0016933. PLoS One. 2011. PMID: 21365004 Free PMC article.
[Familial thoracic aortic aneurysms and dissections (FTAAD)].
Milanowska B, Michalak E, Janaszek-Sitkowska H, Franaszczyk M, Płoski R, Bilińska ZT. Milanowska B, et al. Among authors: ploski r. Kardiol Pol. 2011;69(12):1291-7. Kardiol Pol. 2011. PMID: 22219111 Review. Polish. No abstract available.
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. Among authors: ploski r. BMC Med Genet. 2013 May 23;14:55. doi: 10.1186/1471-2350-14-55. BMC Med Genet. 2013. PMID: 23702046 Free PMC article.
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Ploski R, et al. Circ Res. 2014 Jan 17;114(2):e2-5. doi: 10.1161/CIRCRESAHA.114.302662. Circ Res. 2014. PMID: 24436435
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. Among authors: ploski r. J Transl Med. 2014 Jul 9;12:192. doi: 10.1186/1479-5876-12-192. J Transl Med. 2014. PMID: 25008357 Free PMC article.
475 results