Skórka A - 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: skorka a. 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

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment.

Pollak A, Mueller-Malesinska M, Lechowicz U, Skorka A, Korniszewski L, Sobczyk-Kopciol A, Waskiewicz A, Broda G, Iwanicka-Pronicka K, Oldak M, Skarzynski H, Płoski R. Pollak A, et al. Among authors: skorka a. DNA Cell Biol. 2012 Jul;31(7):1267-73. doi: 10.1089/dna.2012.1607. Epub 2012 Mar 16. DNA Cell Biol. 2012. PMID: 22424391 Free PMC article.

3

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.

Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Korniszewski L, Westfal P, Skarżyński H, Płoski R. Iwanicka-Pronicka K, et al. Among authors: skorka a. Med Sci Monit. 2015 Mar 6;21:694-700. doi: 10.12659/MSM.890965. Med Sci Monit. 2015. PMID: 25744662 Free PMC article.

4

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: skorka a. 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

5

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: skorka a. Clin Genet. 2006 Oct;70(4):348-54. doi: 10.1111/j.1399-0004.2006.00690.x. Clin Genet. 2006. PMID: 16965330

6

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. Clin Endocrinol (Oxf). 2005 Jun;62(6):679-82. doi: 10.1111/j.1365-2265.2005.02279.x. Clin Endocrinol (Oxf). 2005. PMID: 15943829

7

Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.

Szymański K, Skórka A, Szypowska A, Bednarczuk T, Płoski R. Szymański K, et al. Among authors: skorka a. Tissue Antigens. 2011 Sep;78(3):214-6. doi: 10.1111/j.1399-0039.2011.01703.x. Epub 2011 May 25. Tissue Antigens. 2011. PMID: 21615338

8

Disorganisation: a case with popliteal pterygia and placental-skin appendages.

Korniszewski L, Skorka A, Donnai D. Korniszewski L, et al. Among authors: skorka a. Clin Dysmorphol. 1999 Oct;8(4):277-81. Clin Dysmorphol. 1999. PMID: 10532177

9

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: skorka a. Thyroid. 2005 Oct;15(10):1119-24. doi: 10.1089/thy.2005.15.1119. Thyroid. 2005. PMID: 16279844

10

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: skorka a. J Med Genet. 2008 Sep;45(9):607-8. doi: 10.1136/jmg.2008.059873. J Med Genet. 2008. PMID: 18762573 No abstract available.

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