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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.
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: rydzanicz m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
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. Among authors: rydzanicz m. 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.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: rydzanicz m. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis.
Perlejewski K, Bukowska-Ośko I, Nakamura S, Motooka D, Stokowy T, Płoski R, Rydzanicz M, Zakrzewska-Pniewska B, Podlecka-Piętowska A, Nojszewska M, Gogol A, Caraballo Cortés K, Demkow U, Stępień A, Laskus T, Radkowski M. Perlejewski K, et al. Among authors: rydzanicz m. Adv Exp Med Biol. 2016;935:89-98. doi: 10.1007/5584_2016_25. Adv Exp Med Biol. 2016. PMID: 27311319
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.
186 results