Płoski R - Search Results

1

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.

Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L, Skarżyński H, Płoski R. Iwanicka-Pronicka K, et al. Among authors: ploski r. PLoS One. 2012;7(10):e44054. doi: 10.1371/journal.pone.0044054. Epub 2012 Oct 25. PLoS One. 2012. PMID: 23133508 Free PMC article.

2

Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome.

Korniszewski L, Kurzyna M, Stolarski B, Torbicki A, Smerdel A, Ploski R. Korniszewski L, et al. Among authors: ploski r. Eur Respir J. 2003 Oct;22(4):709-11. doi: 10.1183/09031936.03.00018203. Eur Respir J. 2003. PMID: 14582926 Free article.

3

Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset.

Skórka A, Bednarczuk T, Bar-Andziak E, Nauman J, Ploski R. Skórka A, et al. Among authors: ploski r. Clin Endocrinol (Oxf). 2005 Jun;62(6):679-82. doi: 10.1111/j.1365-2265.2005.02279.x. Clin Endocrinol (Oxf). 2005. PMID: 15943829

4

Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease.

Kurylowicz A, Kula D, Ploski R, Skorka A, Jurecka-Lubieniecka B, Zebracka J, Steinhof-Radwanska K, Hasse-Lazar K, Hiromatsu Y, Jarzab B, Bednarczuk T. Kurylowicz A, et al. Among authors: ploski r. Thyroid. 2005 Oct;15(10):1119-24. doi: 10.1089/thy.2005.15.1119. Thyroid. 2005. PMID: 16279844

5

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

6

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

7

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.

Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E. Adamowicz M, et al. Among authors: ploski r. J Inherit Metab Dis. 2007 Jun;30(3):407. doi: 10.1007/s10545-007-0569-z. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457694

8

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

Pollak A, Skórka A, Mueller-Malesińska M, Kostrzewa G, Kisiel B, Waligóra J, Krajewski P, Ołdak M, Korniszewski L, Skarzyński H, Ploski R. Pollak A, et al. Among authors: ploski r. Am J Med Genet A. 2007 Nov 1;143A(21):2534-43. doi: 10.1002/ajmg.a.31982. Am J Med Genet A. 2007. PMID: 17935238

9

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

Pollak A, Mueller-Malesinska M, Skórka A, Kostrzewa G, Ołdak M, Korniszewski L, Skarzýński H, Ploski R. Pollak A, et al. Among authors: ploski r. J Med Genet. 2008 Sep;45(9):607-8. doi: 10.1136/jmg.2008.059873. J Med Genet. 2008. PMID: 18762573 No abstract available.

10

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J. Szaflik JP, et al. Among authors: ploski r. Mol Vis. 2008 Sep 15;14:1713-8. Mol Vis. 2008. PMID: 18806880 Free PMC article.

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