Płoski R - Search Results

1

Molecular bases of metachromatic leukodystrophy in Polish patients.

Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A. Lugowska A, et al. Among authors: ploski r. J Hum Genet. 2010 Jun;55(6):394-6. doi: 10.1038/jhg.2010.25. Epub 2010 Mar 26. J Hum Genet. 2010. PMID: 20339381

2

Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis.

Ploski R, Wozniak M, Pawlowski R, Monies DM, Branicki W, Kupiec T, Kloosterman A, Dobosz T, Bosch E, Nowak M, Lessig R, Jobling MA, Roewer L, Kayser M. Ploski R, et al. Hum Genet. 2002 Jun;110(6):592-600. doi: 10.1007/s00439-002-0728-0. Epub 2002 May 22. Hum Genet. 2002. PMID: 12107446

3

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

Gruchota J, Pronicka E, Korniszewski L, Stolarski B, Pollak A, Rogaszewska M, Płoski R. Gruchota J, et al. Among authors: ploski r. Mol Genet Metab. 2006 Apr;87(4):376-8. doi: 10.1016/j.ymgme.2005.11.010. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16406649

4

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowińska E, Włodarski P, Skórka A, Gremida M, Krajewski P, Ploski R. Stolarski B, et al. Among authors: ploski r. Clin Genet. 2006 Oct;70(4):348-54. doi: 10.1111/j.1399-0004.2006.00690.x. Clin Genet. 2006. PMID: 16965330

5

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.

Ługowska A, Wlodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A. Ługowska A, et al. Among authors: ploski r. Clin Genet. 2009 Jan;75(1):57-64. doi: 10.1111/j.1399-0004.2008.01108.x. Epub 2008 Nov 17. Clin Genet. 2009. PMID: 19021637

6

A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.

Małek LA, Labib S, Mazurkiewicz L, Saj M, Płoski R, Tesson F, Bilińska ZT. Małek LA, et al. Among authors: ploski r. J Hum Genet. 2011 Jan;56(1):83-6. doi: 10.1038/jhg.2010.137. Epub 2010 Nov 18. J Hum Genet. 2011. PMID: 21085127

7

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

Ługowska A, Ponińska J, Krajewski P, Broda G, Płoski R. Ługowska A, et al. Among authors: ploski r. PLoS One. 2011;6(6):e20218. doi: 10.1371/journal.pone.0020218. Epub 2011 Jun 10. PLoS One. 2011. PMID: 21695197 Free PMC article.

8

ARMS-PCR for detection of BRAF V600E hotspot mutation in comparison with Real-Time PCR-based techniques.

Machnicki MM, Glodkowska-Mrowka E, Lewandowski T, Ploski R, Wlodarski P, Stoklosa T. Machnicki MM, et al. Among authors: ploski r. Acta Biochim Pol. 2013;60(1):57-64. Epub 2013 Mar 5. Acta Biochim Pol. 2013. PMID: 23460942

9

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.

Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D, Mazurkiewicz L, Malek L, Walczak E, Fidzianska A, Grzybowski J, Przybylski A, Zielinski T, Korewicki J, Tesson F, Ploski R. Saj M, et al. Among authors: ploski r. BMC Med Genet. 2013 May 23;14:55. doi: 10.1186/1471-2350-14-55. BMC Med Genet. 2013. PMID: 23702046 Free PMC article.

10

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

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