Results 1 to 20 of 59
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TypeTitleAuthor(s)YearViews
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Dorfman, R; Nalpathamkalam, T; Taylor, C; Gonska, T; Keenan, K; Yuan, XW; Corey, M; Tsui, LC; Zielenski, J; Durie, P2010127
 
Modifier gene study of meconium ileus in cystic fibrosis: Statistical considerations and gene mapping results
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Dorfman, 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, LJ2009226
 
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
Journal:
Genome Research
Publisher:
Cold Spring Harbor Laboratory Press, Publications Department. The Journal's web site is located at http://www.genome.org
Aznarez, I; Barash, Y; Shai, O; He, D; Zielenski, J; Tsui, LC; Parkinson, J; Frey, BJ; Rommens, JM; Blencowe, BJ2008417
 
Complex two-gene modulation of lung disease severity in children with cystic fibrosis
Journal:
Journal of Clinical Investigation
Publisher:
American Society for Clinical Investigation. The Journal's web site is located at http://www.jci.org
Dorfman, 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, J2008230
 
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
Publisher:
BMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Aznarez, I; Zielenski, J; Rommens, JM; Blencowe, BJ; Tsui, LC2007251
 
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
Journal:
American Journal of Respiratory and Critical Care Medicine
Publisher:
American Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.org
Wilschanski, M; Dupuis, A; Ellis, L; Jarvi, K; Zielenski, J; Tullis, E; Martin, S; Corey, M; Tsui, LC; Durie, P20061,512
 
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
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, PR2005962
 
Prevalence of CFTR Gene Mutations/Polymorphisms in East Asian Patients with Asthma
Proceedings/Conference:
American Thoracic Society, ATS, San Diego May 2005 page A619
Tan-Un, KC; Chan, SK; Wong, SY; Lee, KH; Kawasoe, J; Zielenski, J; Tsui, LC; Tan, WC2005159
 
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants
Journal:
Archives of Disease in Childhood
Publisher:
B M J Publishing Group. The Journal's web site is located at http://www.archdischild.com/
MeiZahav, M; Durie, P; Zielenski, J; Solomon, M; Tullis, E; Tsui, LC; Corey, M2005851
 
Glucose intolerance in children with cystic fibrosis
Journal:
Journal of Pediatrics
Publisher:
Mosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpeds
Solomon, MP; Wilson, DC; Corey, M; Kalnins, D; Zielenski, J; Tsui, LC; Pencharz, P; Durie, P; Sweezey, NB2003505
 
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas
Journal:
Gut
Publisher:
BMJ Publishing Group. The Journal's web site is located at http://gut.bmjjournals.com/
Ahmed, N; Corey, M; Forstner, G; Zielenski, J; Tsui, LC; Ellis, L; Tullis, E; Durie, P2003411
 
Locus CFM1: a potential modifier of pancreatic disease in children with cystic fibrosis
Publisher:
University of Chicago Press. The Journal's web site is located at http://www.journals.uchicago.edu/AJHG
Sontag, MK; Hokanson, JE; Marshall, JA; Corey, M; Zerbe, GO; Tsui, L-C; Zielenski, J; Accurso, FJ2003308
 
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
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Aznarez, I; Chan, EM; Zielenski, J; Blencowe, BJ; Tsui, LC2003791
 
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Sheth, S; Shea, JC; Bishop, MD; Chopra, S; Regan, MM; Malmberg, E; Walker, C; Ricci, R; Tsui, LC; Durie, PR; Zielenski, J; Freedman, SD2003543
 
Complete screening of the CFTR gene in Argentine cystic fibrosis patients
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Visich, A; Zielenski, J; Castaños, C; Diez, G; Grenoville, M; Segal, E; Barreiro, C; Tsui, LC; Chertkoff, LP2002305
 
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
Journal:
Methods in molecular medicine
Publisher:
Humana Press, Inc. The Journal's web site is located at http://humanapress.com
Zielenski, J; Aznarez, I; Onay, T; Tzounzouris, J; Markiewicz, D; Tsui, LC2002160
 
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
Journal:
Gastroenterology
Publisher:
WB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/gastro
Durno, C; Corey, M; Zielenski, J; Tullis, E; Tsui, LC; Durie, P2002229
 
Cystic fibrosis in Uruguay
Journal:
Genetics and Molecular Research
Publisher:
Fundacao de Pesquisas Cientificas de Ribeirao Preto. The Journal's web site is located at http://www.funpecrp.com.br/gmr
Luzardo, G; Aznarez, I; Crispino, B; Mimbacas, A; Martínez, L; Poggio, R; Zielenski, J; Tsui, LC; Cardoso, H2002476
 
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
Journal:
Genetic Testing
Publisher:
Mary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
Strandvik, B; Zielenski, J; Björck, E; Fallström, M; Gronowitz, E; Thountzouris, J; Lindblad, A; Markiewicz, D; Wahlström, J; Tsui, LC2001344
 
Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients
Journal:
Human Biology
Publisher:
Wayne State University Press.
Onay, T; Zielenski, J; Topaloglu, O; Gokgoz, N; Kayserili, H; Apa, MY; Camcioglu, Y; Cokugras, H; Akcakaya, N; Tsui, LC; Kirdar, B2001371
 
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