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Human Molecular Genetics|August 13, 2003
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 geneIsabel Aznarez, Elayne M Chan, Julian Zielenski, et al.Journal of Medical Genetics|May 4, 2007
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553XIsabel Aznarez, Julian Zielenski, Johanna M Rommens, et al.Gastroenterology|November 28, 2002
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitisCarol Durno, Mary Corey, Julian Zielenski, et al.Chest|October 16, 2004
Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthoodMarita Gilljam, Lynda Ellis, Mary Corey, et al.The Journal of Pediatrics|October 6, 2005
Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomesMarci K Sontag, Keith B Hammond, Julian Zielenski, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2008
Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screeningAnne-Marie Madore, Claude Prévost, Ruslan Dorfman, et al.American Journal of Respiratory and Critical Care Medicine|February 25, 2006
Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokersAndré M Cantin, John W Hanrahan, Ginette Bilodeau, et al.Genetics and Molecular Research : GMR|February 14, 2004
Cystic fibrosis in UruguayGerardo Luzardo, Isabel Aznarez, Beatriz Crispino, et al.American Journal of Respiratory and Critical Care Medicine|October 11, 2003
Airway inflammation and infection in congenital bilateral absence of the vas deferensMarita Gilljam, Yuri Moltyaner, Gregory P Downey, et al.Methods in Molecular Biology (Clifton, N.J.)|May 7, 2011
Evaluation of the disease liability of CFTR variantsPatrick R Sosnay, Carlo Castellani, Mary Corey, et al.Pageof 4