Associated Papers
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.
Ratkiewicz M et al.
World Journal of Pediatrics : Wjp, 2017
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
LaRusch J et al.
Plos Genetics, 2014
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
Van Goor F et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2014
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.
Sermet-Gaudelus I et al.
American Journal of Respiratory and Critical Care Medicine, 2010
Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.
Ziedalski TM et al.
Chest, 2006
Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
Weiss FU et al.
Gut, 2005
CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
Tzetis M et al.
Human Genetics, 2001
Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.
Pallares-Ruiz N et al.
Human Reproduction (oxford, England), 1999
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