Rutkiewicz E - Search Results

1

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.

Witt M, Pogorzelski A, Zebrak J, Rutkiewicz E. Witt M, et al. Among authors: rutkiewicz e. Clin Genet. 1996 Sep;50(3):149-51. doi: 10.1111/j.1399-0004.1996.tb02370.x. Clin Genet. 1996. PMID: 8946114

2

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype.

Skrzypczak U, Rutkiewicz E, Pogorzelski A, Witt M, Zietkiewicz E. Skrzypczak U, et al. Among authors: rutkiewicz e. J Appl Genet. 2007;48(1):85-8. doi: 10.1007/BF03194662. J Appl Genet. 2007. PMID: 17272866

3

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M. Ziętkiewicz E, et al. Among authors: rutkiewicz e. PLoS One. 2014 Feb 26;9(2):e89094. doi: 10.1371/journal.pone.0089094. eCollection 2014. PLoS One. 2014. PMID: 24586523 Free PMC article.

4

[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].

Witt M, Pogorzelski A, Bal J, Rutkiewicz E, Majka L, Sobczyńska A. Witt M, et al. Among authors: rutkiewicz e. Pneumonol Alergol Pol. 1999;67(3-4):137-41. Pneumonol Alergol Pol. 1999. PMID: 10497446 Polish.

5

Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.

Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M. Zebrak J, et al. Among authors: rutkiewicz e. Clin Genet. 2000 Jan;57(1):56-60. doi: 10.1034/j.1399-0004.2000.570108.x. Clin Genet. 2000. PMID: 10733236

6

Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.

Walkowiak J, Herzig KH, Witt M, Pogorzelski A, Piotrowski R, Barra E, Sobczynska-Tomaszewska A, Trawinska-Bartnicka M, Strzykala K, Cichy W, Sands D, Rutkiewicz E, Krawczynski M. Walkowiak J, et al. Among authors: rutkiewicz e. Eur J Clin Invest. 2001 Sep;31(9):796-801. doi: 10.1046/j.1365-2362.2001.00876.x. Eur J Clin Invest. 2001. PMID: 11589722

7

Effect of genotype on selected clinical features of Polish cystic fibrosis adults.

Majka L, Pogorzelski A, Młynarczyk W, Zebrak J, Rutkiewicz E, Nowicka A, Witt M. Majka L, et al. Among authors: rutkiewicz e. J Appl Genet. 2001;42(3):367-77. J Appl Genet. 2001. PMID: 14564043

8

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

Ziętkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Humińska K, Przystałowska H, Pogorzelski A, Witt M. Ziętkiewicz E, et al. Among authors: rutkiewicz e. Respir Res. 2010 Dec 8;11(1):174. doi: 10.1186/1465-9921-11-174. Respir Res. 2010. PMID: 21143860 Free PMC article.

9

[Cystic fibrosis diagnosed in 36-year old man].

Majka L, Witt M, Młynarczyk W, Nowicka A, Rutkiewicz E. Majka L, et al. Among authors: rutkiewicz e. Pneumonol Alergol Pol. 2004;72(5-6):211-3. Pneumonol Alergol Pol. 2004. PMID: 15757261 Polish.

10

RPGR mutations might cause reduced orientation of respiratory cilia.

Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H, Witt M. Bukowy-Bieryłło Z, et al. Among authors: rutkiewicz e. Pediatr Pulmonol. 2013 Apr;48(4):352-63. doi: 10.1002/ppul.22632. Epub 2012 Aug 6. Pediatr Pulmonol. 2013. PMID: 22888088

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