Zielenski J - Search Results

1

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.

Aznarez I, Barash Y, Shai O, He D, Zielenski J, Tsui LC, Parkinson J, Frey BJ, Rommens JM, Blencowe BJ. Aznarez I, et al. Among authors: zielenski j. Genome Res. 2008 Aug;18(8):1247-58. doi: 10.1101/gr.073155.107. Epub 2008 May 2. Genome Res. 2008. PMID: 18456862 Free PMC article.

2

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

3

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.

Aznarez I, Zielenski J, Rommens JM, Blencowe BJ, Tsui LC. Aznarez I, et al. Among authors: zielenski j. J Med Genet. 2007 May;44(5):341-6. doi: 10.1136/jmg.2006.045880. J Med Genet. 2007. PMID: 17475917 Free PMC article.

4

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC. Zielenski J, et al. Genomics. 1991 May;10(1):229-35. doi: 10.1016/0888-7543(91)90504-8. Genomics. 1991. PMID: 1710599

5

CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.

Zielenski J, Aznarez I, Onay T, Tzounzouris J, Markiewicz D, Tsui LC. Zielenski J, et al. Methods Mol Med. 2002;70:3-19. doi: 10.1385/1-59259-187-6:03. Methods Mol Med. 2002. PMID: 11917532 No abstract available.

6

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC. Zielenski J, et al. Genomics. 1991 May;10(1):214-28. doi: 10.1016/0888-7543(91)90503-7. Genomics. 1991. PMID: 1710598

7

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.

Zielenski J, Markiewicz D, Lin SP, Huang FY, Yang-Feng TL, Tsui LC. Zielenski J, et al. Clin Genet. 1995 Mar;47(3):125-32. doi: 10.1111/j.1399-0004.1995.tb03944.x. Clin Genet. 1995. PMID: 7543385

8

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

9

Cystic fibrosis: genotypic and phenotypic variations.

Zielenski J, Tsui LC. Zielenski J, et al. Annu Rev Genet. 1995;29:777-807. doi: 10.1146/annurev.ge.29.120195.004021. Annu Rev Genet. 1995. PMID: 8825494 Review.

10

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.

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