Skórka A - Search Results

1

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.

Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. Among authors: skorka a. J Med Genet. 2019 Feb;56(2):104-112. doi: 10.1136/jmedgenet-2018-105527. Epub 2018 Oct 23. J Med Genet. 2019. PMID: 30352868

2

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M. Ciara E, et al. Among authors: skorka a. Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11. Eur J Med Genet. 2015. PMID: 25463315

3

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Jurkiewicz D, Kugaudo M, Skórka A, Śmigiel R, Smyk M, Ciara E, Chrzanowska K, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: skorka a. Am J Med Genet A. 2017 Jan;173(1):72-78. doi: 10.1002/ajmg.a.37964. Epub 2016 Sep 9. Am J Med Genet A. 2017. PMID: 27612309

4

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.

Skórka A, Ciara E, Gieruszczak-Białek D, Pelc M, Kugaudo M, Chrzanowska K, Krajewska-Walasek M. Skórka A, et al. Am J Med Genet A. 2012 Jun;158A(6):1486-8. doi: 10.1002/ajmg.a.35320. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528320 No abstract available.

5

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Jurkiewicz D, Skórka A, Ciara E, Kugaudo M, Pelc M, Chrzanowska K, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: skorka a. Clin Dysmorphol. 2020 Jan;29(1):28-34. doi: 10.1097/MCD.0000000000000307. Clin Dysmorphol. 2020. PMID: 31804259

6

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

7

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Pelc M, Ciara E, Jezela-Stanek A, Kugaudo M, Cieślikowska A, Jurkiewicz D, Janeczko M, Chrzanowska K, Krajewska-Walasek M, Skórka A. Pelc M, et al. Among authors: skorka a. Clin Dysmorphol. 2017 Apr;26(2):83-90. doi: 10.1097/MCD.0000000000000165. Clin Dysmorphol. 2017. PMID: 28027064

8

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

9

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

10

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.

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