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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. 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. PLoS One. 2011 Feb 18;6(2):e16933. doi: 10.1371/journal.pone.0016933. PLoS One. 2011. PMID: 21365004 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.
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Poninska JK, et al. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4. J Transl Med. 2016. PMID: 27146836 Free PMC article.
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Krych M, Biernacka EK, Ponińska J, Kukla P, Filipecki A, Gajda R, Hasdemir C, Antzelevitch C, Kosiec A, Szperl M, Płoski R, Trusz-Gluza M, Mizia-Stec K, Hoffman P. Krych M, et al. J Cardiol. 2017 Nov;70(5):504-510. doi: 10.1016/j.jjcc.2017.01.009. Epub 2017 Mar 21. J Cardiol. 2017. PMID: 28336205 Free PMC article.
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