Zielenski J - Search Results

1

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Sheth S, Shea JC, Bishop MD, Chopra S, Regan MM, Malmberg E, Walker C, Ricci R, Tsui LC, Durie PR, Zielenski J, Freedman SD. Sheth S, et al. Among authors: zielenski j. Hum Genet. 2003 Aug;113(3):286-92. doi: 10.1007/s00439-003-0963-z. Epub 2003 Jun 3. Hum Genet. 2003. PMID: 12783301

2

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.

Bishop MD, Freedman SD, Zielenski J, Ahmed N, Dupuis A, Martin S, Ellis L, Shea J, Hopper I, Corey M, Kortan P, Haber G, Ross C, Tzountzouris J, Steele L, Ray PN, Tsui LC, Durie PR. Bishop MD, et al. Among authors: zielenski j. Hum Genet. 2005 Dec;118(3-4):372-81. doi: 10.1007/s00439-005-0059-z. Epub 2005 Sep 29. Hum Genet. 2005. PMID: 16193325

3

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

Mak V, Jarvi KA, Zielenski J, Durie P, Tsui LC. Mak V, et al. Among authors: zielenski j. Hum Mol Genet. 1997 Nov;6(12):2099-107. doi: 10.1093/hmg/6.12.2099. Hum Mol Genet. 1997. PMID: 9328474

4

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.

Aznarez I, Chan EM, Zielenski J, Blencowe BJ, Tsui LC. Aznarez I, et al. Among authors: zielenski j. Hum Mol Genet. 2003 Aug 15;12(16):2031-40. doi: 10.1093/hmg/ddg215. Hum Mol Genet. 2003. PMID: 12913074

5

Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function.

Pall H, Zielenski J, Jonas MM, DaSilva DA, Potvin KM, Yuan XW, Huang Q, Freedman SD. Pall H, et al. Among authors: zielenski j. J Pediatr. 2007 Sep;151(3):255-9. doi: 10.1016/j.jpeds.2007.03.062. Epub 2007 Jul 24. J Pediatr. 2007. PMID: 17719933

6

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Morral N, Girbau E, Zielenski J, Nunes V, Casals T, Tsui LC, Estivill X. Morral N, et al. Among authors: zielenski j. Hum Genet. 1992 Jan;88(3):356. doi: 10.1007/BF00197276. Hum Genet. 1992. PMID: 1370810

7

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Markiewicz D, Rininsland F, Rommens J, Tsui LC. Zielenski J, et al. Am J Hum Genet. 1991 Dec;49(6):1256-62. Am J Hum Genet. 1991. PMID: 1720926 Free PMC article.

8

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC. Zielenski J, et al. Hum Mutat. 1995;5(1):43-7. doi: 10.1002/humu.1380050106. Hum Mutat. 1995. PMID: 7537150

9

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K. Zielenski J, et al. Am J Hum Genet. 1993 Mar;52(3):609-15. Am J Hum Genet. 1993. PMID: 7680525 Free PMC article.

10

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

Zielenski J, Bozon D, Markiewicz D, Aubin G, Simard F, Rommens JM, Tsui LC. Zielenski J, et al. Hum Mol Genet. 1993 Jun;2(6):683-7. doi: 10.1093/hmg/2.6.683. Hum Mol Genet. 1993. PMID: 7689008

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