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Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.
Koppolu A, Maksym RB, Paskal W, Machnicki M, Rak B, Pępek M, Garbicz F, Pełka K, Kuśmierczyk Z, Jacko J, Rydzanicz M, Banach-Orłowska M, Stokłosa T, Płoski R, Malejczyk J, Włodarski PK. Koppolu A, et al. Among authors: rydzanicz m. Cells. 2021 Mar 29;10(4):749. doi: 10.3390/cells10040749. Cells. 2021. PMID: 33805315 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. Among authors: rydzanicz m. 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 rare mutation in a rare tumor--SMARCB1-deficient malignant glomus tumor.
Dabek B, Kram A, Kubrak J, Kurzawski M, Wojcik P, Machnicki MM, Stoklosa T, Rydzanicz M, Ploski R, Debiec-Rychter M. Dabek B, et al. Among authors: rydzanicz m. Genes Chromosomes Cancer. 2016 Jan;55(1):107-9. doi: 10.1002/gcc.22296. Epub 2015 Sep 22. Genes Chromosomes Cancer. 2016. PMID: 26391213 No abstract available.
Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype.
Bujko M, Machnicki MM, Grecka E, Rusetska N, Matyja E, Kober P, Mandat T, Rydzanicz M, Płoski R, Krajewski R, Bonicki W, Stokłosa T, Siedlecki JA. Bujko M, et al. Among authors: rydzanicz m. World Neurosurg. 2017 Jan;97:754.e1-754.e6. doi: 10.1016/j.wneu.2016.10.047. Epub 2016 Oct 15. World Neurosurg. 2017. PMID: 27756662
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.
Pollak A, Lechowicz U, Kędra A, Stawiński P, Rydzanicz M, Furmanek M, Brzozowska M, Mrówka M, Skarżyński H, Skarżyński PH, Ołdak M, Płoski R. Pollak A, et al. Among authors: rydzanicz m. PLoS One. 2016 Dec 12;11(12):e0166618. doi: 10.1371/journal.pone.0166618. eCollection 2016. PLoS One. 2016. PMID: 27941975 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. Among authors: rydzanicz m. PLoS One. 2017 Jan 3;12(1):e0169007. doi: 10.1371/journal.pone.0169007. eCollection 2017. PLoS One. 2017. PMID: 28045975 Free PMC article.
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: rydzanicz m. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
186 results