Results 1 to 20 of 59
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Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?Dorfman, R; Nalpathamkalam, T; Taylor, C; Gonska, T; Keenan, K; Yuan, XW; Corey, M; Tsui, LC; Zielenski, J; Durie, P201081
Modifier gene study of meconium ileus in cystic fibrosis: Statistical considerations and gene mapping resultsDorfman, R; Li, W; Sun, L; Lin, F; Wang, Y; Sandford, A; Paré, PD; McKay, K; Kayserova, H; Piskackova, T; MacEk, M; Czerska, K; Sands, D; Tiddens, H; Margarit, S; Repetto, G; Sontag, MK; Accurso, FJ; Blackman, S; Cutting, GR; Tsui, LC; Corey, M; Durie, P; Zielenski, J; Strug, LJ2009136
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 regulationAznarez, I; Barash, Y; Shai, O; He, D; Zielenski, J; Tsui, LC; Parkinson, J; Frey, BJ; Rommens, JM; Blencowe, BJ2008346
Complex two-gene modulation of lung disease severity in children with cystic fibrosisDorfman, R; Sandford, A; Taylor, C; Huang, B; Frangolias, D; Wang, Y; Sang, R; Pereira, L; Sun, L; Berthiaume, Y; Tsui, LC; Paré, PD; Durie, P; Corey, M; Zielenski, J2008174
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553XAznarez, I; Zielenski, J; Rommens, JM; Blencowe, BJ; Tsui, LC2007188
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentialsWilschanski, M; Dupuis, A; Ellis, L; Jarvi, K; Zielenski, J; Tullis, E; Martin, S; Corey, M; Tsui, LC; Durie, P20061,428
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitisBishop, 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, PR2005880
Prevalence of CFTR Gene Mutations/Polymorphisms in East Asian Patients with AsthmaTan-Un, KC; Chan, SK; Wong, SY; Lee, KH; Kawasoe, J; Zielenski, J; Tsui, LC; Tan, WC2005110
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrantsMeiZahav, M; Durie, P; Zielenski, J; Solomon, M; Tullis, E; Tsui, LC; Corey, M2005802
Glucose intolerance in children with cystic fibrosisSolomon, MP; Wilson, DC; Corey, M; Kalnins, D; Zielenski, J; Tsui, LC; Pencharz, P; Durie, P; Sweezey, NB2003444
Locus CFM1: a potential modifier of pancreatic disease in children with cystic fibrosisSontag, MK; Hokanson, JE; Marshall, JA; Corey, M; Zerbe, GO; Tsui, L-C; Zielenski, J; Accurso, FJ2003278
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 geneAznarez, I; Chan, EM; Zielenski, J; Blencowe, BJ; Tsui, LC2003734
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitisSheth, S; Shea, JC; Bishop, MD; Chopra, S; Regan, MM; Malmberg, E; Walker, C; Ricci, R; Tsui, LC; Durie, PR; Zielenski, J; Freedman, SD2003486
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreasAhmed, N; Corey, M; Forstner, G; Zielenski, J; Tsui, LC; Ellis, L; Tullis, E; Durie, P2003358
Complete screening of the CFTR gene in Argentine cystic fibrosis patientsVisich, A; Zielenski, J; Castaños, C; Diez, G; Grenoville, M; Segal, E; Barreiro, C; Tsui, LC; Chertkoff, LP2002241
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.Zielenski, J; Aznarez, I; Onay, T; Tzounzouris, J; Markiewicz, D; Tsui, LC2002114
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitisDurno, C; Corey, M; Zielenski, J; Tullis, E; Tsui, LC; Durie, P2002188
Cystic fibrosis in UruguayLuzardo, G; Aznarez, I; Crispino, B; Mimbacas, A; Martínez, L; Poggio, R; Zielenski, J; Tsui, LC; Cardoso, H2002444
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutationsStrandvik, B; Zielenski, J; Björck, E; Fallström, M; Gronowitz, E; Thountzouris, J; Lindblad, A; Markiewicz, D; Wahlström, J; Tsui, LC2001286
Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patientsOnay, T; Zielenski, J; Topaloglu, O; Gokgoz, N; Kayserili, H; Apa, MY; Camcioglu, Y; Cokugras, H; Akcakaya, N; Tsui, LC; Kirdar, B2001332
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