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Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Biernacka EK, Osadnik T, Bilińska ZT, Krawczyński M, Latos-Bieleńska A, Łaczmańska I, Miszczak-Knecht M, Płoski R, Ponińska JK, Prejbisz A, Rubiś P, Rudnicka A, Szczałuba K, Szczygieł JA, Własienko P, Wołczenko A, Zienciuk-Krajka A, Ziółkowska L, Gil R. Biernacka EK, et al. Among authors: poninska jk. Kardiol Pol. 2024;82(5):569-593. doi: 10.33963/v.phj.100490. Epub 2024 May 7. Kardiol Pol. 2024. PMID: 38712785 Free article.
Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.
Chmielewski P, Ponińska JK, Michalak E, Michałowska I, Kowalik I, Truszkowska G, Kugaudo M, Minota I, Stawiński P, Płoski R, Bilińska ZT. Chmielewski P, et al. Among authors: poninska jk. Kardiol Pol. 2023;81(11):1096-1102. doi: 10.33963/v.kp.97390. Epub 2023 Oct 12. Kardiol Pol. 2023. PMID: 37823753 Free article.
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. 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.
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.
21 results