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Title	Author(s)	Issue Date
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families Journal:Human Genetics	Dork, T Neumann, T Wulbrand, U Wulf, B Kalin, N Maass, G Krawczak, M Guillermit, H Ferec, C Horn, G Klinger, K Kerem, BS Zielenski, J Tsui, LC Tummler, B	1992
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis Journal:Human Genetics	Sheth, S Shea, JC Bishop, MD Chopra, S Regan, MM Malmberg, E Walker, C Ricci, R Tsui, LC Durie, PR Zielenski, J Freedman, SD	2003
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD) Journal:Human Mutation	Zielenski, J Patrizio, P Markiewicz, D Asch, RH Tsui, LC	1997
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 Journal:American Journal of Human Genetics	Zielenski, J Fujiwara, TM Markiewicz, D Paradis, AJ Anacleto, AI Richards, B Schwartz, RH Klinger, KW Tsui, LC Morgan, K	1993
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene Journal:Human Mutation	Zielenski, J Markiewicz, D Chen, HS Schappert, K Seller, A Durie, P Corey, M Tsui, LC	1995
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene Journal:Proceedings of the National Academy of Sciences of the United States of America	Kerem, B Zielenski, J Markiewicz, D Bozon, D Gazit, E Yahav, J Kennedy, D Riordan, JR Collins, FS Rommens, JM Tsui, LC	1990
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Journal:Genomics	Zielenski, J Bozon, D Kerem, BS Markiewicz, D Durie, P Rommens, JM Tsui, LC	1991
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G Journal:Human Mutation	Bozon, D Zielenski, J Rininsland, F Tsui, LC	1994
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens Journal:Human Molecular Genetics	Mak, V Jarvi, KA Zielenski, J Durie, P Tsui, LC	1997
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: Role of cystic fibrosis transmembrane conductance regulator gene mutations Journal:Fertility and Sterility	Jarvi, K McCallum, S Zielenski, J Durie, P Tullis, E Wilchanski, M Margolis, M Asch, M Ginzburg, B Martin, S Buckspan, MB Tsui, LC	1998
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers Journal:Human Mutation	Morral, N Dörk, T Llevadot, R Dziadek, V Mercier, B Férec, C Costes, B Girodon, E Zielenski, J Tsui, LC Tümmler, B Estivill, X	1996
Glucose intolerance in children with cystic fibrosis Journal:Journal of Pediatrics	Solomon, MP Wilson, DC Corey, M Kalnins, D Zielenski, J Tsui, LC Pencharz, P Durie, P Sweezey, NB	2003
Genotype/phenotype in relation to lung disease Proceeding/Conference:Pediatric Pulmonology	Durie, PR Tullis, E Corey, M Ellis, L Martin, S Jarvi, K Zielenski, J Gilljam, M Tsui, LC	1998
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis Journal:Gastroenterology	Durno, C Corey, M Zielenski, J Tullis, E Tsui, LC Durie, P	2002
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Journal:Genomics	Zielenski, J Rozmahel, R Bozon, D Kerem, BS Grzelczak, Z Riordan, JR Rommens, J Tsui, LC	1991
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X Journal:Journal of Medical Genetics	Aznarez, I Zielenski, J Rommens, JM Blencowe, BJ Tsui, LC	2007
An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis Journal:FASEB Journal	Nicol, CJ Zielenski, J Tsui, LC Wells, PG	2000
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Journal:Clinical Genetics	Dorfman, R Nalpathamkalam, T Taylor, C Gonska, T Keenan, K Yuan, XW Corey, M Tsui, LC Zielenski, J Durie, P	2010
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Journal:Human Genetics	Morral, N Girbau, E Zielenski, J Nunes, V Casals, T Tsui, LC Estivill, X	1992
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 [3] Journal:Nature Genetics	Zielenski, J Corey, M Rozmahel, R Markiewicz, D Aznarez, I Casals, T Larriba, S Mercier, B Cutting, GR Krebsova, A Macek M, Jr Langfelder Schwind, E Marshall, BC DecelieGermana, J Claustres, M Palacio, A Bal, J Nowakowska, A Ferec, C Estivill, X Durie, P Tsui, LC	1999

Showing results 18 to 37 of 57 < previous next >