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Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jabłónska J, Rydzanicz M, Stawiński P, Ciara E, Lipska-Ziętkiewicz BS, Khan MI, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: ploski r. Mol Vis. 2021 Jul 16;27:457-465. eCollection 2021. Mol Vis. 2021. PMID: 34321860 Free PMC article.
Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.
Rydzanicz M, Wróbel M, Pollak A, Gawecki W, Brauze D, Kostrzewska-Poczekaj M, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarzyński H, Szyfter K. Rydzanicz M, et al. Among authors: ploski r. Biochem Biophys Res Commun. 2010 Apr 23;395(1):116-21. doi: 10.1016/j.bbrc.2010.03.149. Epub 2010 Mar 28. Biochem Biophys Res Commun. 2010. PMID: 20353758
The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.
Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W. Rydzanicz M, et al. Among authors: ploski r. Mol Genet Metab. 2011 Sep-Oct;104(1-2):153-9. doi: 10.1016/j.ymgme.2011.05.004. Epub 2011 May 13. Mol Genet Metab. 2011. PMID: 21621438
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: ploski r. Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829229
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. 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: ploski r. PLoS One. 2014 Sep 29;9(9):e108900. doi: 10.1371/journal.pone.0108900. eCollection 2014. PLoS One. 2014. PMID: 25265168 Free PMC article.
475 results