Sobczyńska-Tomaszewska A - Search Results

1

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C. Wertheim-Tysarowska K, et al. J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2. J Appl Genet. 2016. PMID: 26432462 Free PMC article.

2

[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].

Aznarez I, Bal J, Casals T, Estivill X, Moral N, Sands D, Nunes V, Sobczyńska-Tomaszewska A, Tsui LC, Zielenski J. Aznarez I, et al. Med Wieku Rozwoj. 2000 Apr-Jun;4(2):149-59. Med Wieku Rozwoj. 2000. PMID: 11013869 Polish.

3

[Identification of mutation and polymorphic changes in the CFTR gene of patients with obstructive azoospermia].

Sobczyńska-Tomaszewska A, Wolski JK, Bal J. Sobczyńska-Tomaszewska A, et al. Wiad Lek. 2000;53(11-12):644-51. Wiad Lek. 2000. PMID: 11247407 Polish.

4

[Hereditary aspects of pancreatitis].

Bak D, Sobczyńska-Tomaszewska A, Bal J. Bak D, et al. Med Wieku Rozwoj. 2003 Jan-Mar;7(1):57-66. Med Wieku Rozwoj. 2003. PMID: 13130170 Review. Polish.

5

[Prenatal diagnosis of cystic fibrosis in risk families in Poland--results of molecular analysis].

Bal J, Sobczyńska-Tomaszewska A, Czerska K, Obersztyn E, Sands D, Mazurczak T. Bal J, et al. Med Wieku Rozwoj. 2004 Oct-Dec;8(4 Pt 1):871-83. Med Wieku Rozwoj. 2004. PMID: 15951608 Polish.

6

[Cystic fibrosis--a disease with many faces. The variable clinical picture versus the heterogeneity of molecular defect].

Sobczynska-Tomaszewska A, Czerska K, Bal J. Sobczynska-Tomaszewska A, et al. Med Wieku Rozwoj. 2004 Oct-Dec;8(4 Pt 1):884-99. Med Wieku Rozwoj. 2004. PMID: 15951609 Review. Polish.

7

Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility.

Sobczyńska-Tomaszewska A, Bak D, Wolski JK, Bablok L, Nawara M, Mazurczak T, Bal J. Sobczyńska-Tomaszewska A, et al. J Reprod Med. 2006 Feb;51(2):120-7. J Reprod Med. 2006. PMID: 16572913

8

Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.

Sobczyńska-Tomaszewska A, Bak D, Oralewska B, Oracz G, Norek A, Czerska K, Mazurczak T, Teisseyre M, Socha J, Zagulski M, Bal J. Sobczyńska-Tomaszewska A, et al. J Pediatr Gastroenterol Nutr. 2006 Sep;43(3):299-306. doi: 10.1097/01.mpg.0000232570.48773.df. J Pediatr Gastroenterol Nutr. 2006. PMID: 16954950

9

[Search for the etiopathogenesis of polycystic ovary syndrome (PCOS)].

Wertheim K, Sobczyńska-Tomaszewska A, Bal J. Wertheim K, et al. Ginekol Pol. 2007 Aug;78(8):626-31. Ginekol Pol. 2007. PMID: 18050612 Review. Polish.

10

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].

Kutkowska-Kaźmierczak A, Obersztyn E, Bonnefont JP, Rosińska-Borkowska D, Mazurczak T, Sobczyńska-Tomaszewska A, Mazurczak T. Kutkowska-Kaźmierczak A, et al. Med Wieku Rozwoj. 2008 Jul-Sep;12(3):748-53. Med Wieku Rozwoj. 2008. PMID: 19305025 Polish.

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