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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R. Jezela-Stanek A, et al. Among authors: stawinski p. Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920656 No abstract available.
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. Among authors: stawinski p. Circ Res. 2014 Jan 17;114(2):e2-5. doi: 10.1161/CIRCRESAHA.114.302662. Circ Res. 2014. PMID: 24436435
Inverse association between obesity predisposing FTO genotype and completed suicide.
Chojnicka I, Fudalej S, Walczak A, Wasilewska K, Fudalej M, Stawiński P, Strawa K, Pawlak A, Wojnar M, Krajewski P, Płoski R. Chojnicka I, et al. Among authors: stawinski p. PLoS One. 2014 Sep 29;9(9):e108900. doi: 10.1371/journal.pone.0108900. eCollection 2014. PLoS One. 2014. PMID: 25265168 Free PMC article.
A cautionary note on using binary calls for analysis of DNA methylation.
Prochenka A, Pokarowski P, Gasperowicz P, Kosińska J, Stawiński P, Zbieć-Piekarska R, Spólnicka M, Branicki W, Płoski R. Prochenka A, et al. Among authors: stawinski p. Bioinformatics. 2015 May 1;31(9):1519-20. doi: 10.1093/bioinformatics/btv090. Epub 2015 Feb 13. Bioinformatics. 2015. PMID: 25682069 No abstract available.
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. Among authors: stawinski p. 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 of 5' Untranslated Region of Hepatitis C Virus in Search of Minor Viral Variant in a Patient Who Revealed New Genotype While on Antiviral Treatment.
Caraballo Cortes K, Bukowska-Ośko I, Pawełczyk A, Perlejewski K, Płoski R, Lechowicz U, Stawiński P, Demkow U, Laskus T, Radkowski M. Caraballo Cortes K, et al. Among authors: stawinski p. Adv Exp Med Biol. 2016;885:11-23. doi: 10.1007/5584_2015_186. Adv Exp Med Biol. 2016. PMID: 26747069
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: stawinski p. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
83 results