Sobczyńska-Tomaszewska A - Search Results

1

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T; NBS CF working group. Sobczyńska-Tomaszewska A, et al. Eur J Hum Genet. 2013 Apr;21(4):391-6. doi: 10.1038/ejhg.2012.180. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892530 Free PMC article.

2

[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.

3

Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis.

Mądry E, Fidler E, Sobczyńska-Tomaszewska A, Lisowska A, Krzyżanowska P, Pogorzelski A, Minarowski Ł, Oralewska B, Mojs E, Sapiejka E, Marciniak R, Sands D, Korzon-Burakowska A, Kwiecień J, Walkowiak J. Mądry E, et al. Eur J Hum Genet. 2011 Jul;19(7):748-52. doi: 10.1038/ejhg.2011.36. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407263 Free PMC article.

4

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients.

Czerska K, Sobczynska-Tomaszewska A, Sands D, Nowakowska A, Bak D, Wertheim K, Poznanski J, Zielenski J, Norek A, Bal J. Czerska K, et al. J Appl Genet. 2010;51(3):323-30. doi: 10.1007/BF03208862. J Appl Genet. 2010. PMID: 20720307

5

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.

Norek A, Stremska M, Sobczyńska-Tomaszewska A, Wertheim-Tysarowska K, Dmeńska H, Jurek M. Norek A, et al. J Pediatr. 2011 Aug;159(2):343-6.e1. doi: 10.1016/j.jpeds.2011.04.022. Epub 2011 Jun 12. J Pediatr. 2011. PMID: 21663921

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

Novel and recurrent COL7A1 mutation in a Polish population.

Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Kutkowska-Kaźmierczak A, Woźniak K, Niepokój K, Klausegger A, Sypniewska-Jutkiewicz J, Stępień A, Bal J. Wertheim-Tysarowska K, et al. Eur J Dermatol. 2012 Jan-Feb;22(1):23-8. doi: 10.1684/ejd.2011.1583. Eur J Dermatol. 2012. PMID: 22266148

10

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Jezela-Stanek A, Suchoń L, Sobczyńska-Tomaszewska A, Czerska K, Kuśmierska K, Taybert J, Ołtarzewski M, Sykut-Cegielska J. Jezela-Stanek A, et al. Among authors: sobczynska tomaszewska a. Genes (Basel). 2022 Apr 29;13(5):802. doi: 10.3390/genes13050802. Genes (Basel). 2022. PMID: 35627187 Free PMC article.

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