Background Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)
gene containing a premature termination signal cause a deficiency or absence of functional …

Background In about 10% of patients worldwide and more than 50% of patients in Israel, cystic
fibrosis results from nonsense mutations (premature stop codons) in the messenger RNA (…

Fundamental to the pathogenesis of obstructive sleep apnea (OSA) is the interaction of
physiologic and anatomic alterations of the upper airway. However, many patients with OSA …

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
containing a premature termination signal are expected to produce little or no CFTR chloride …

This 2-year cross-sectional evaluation of nontuberculous mycobacterial (NTM) infections
involved all Israeli medical centers that treat cystic fibrosis patients. The study comprised 186 …

Objective. The aim of this study was to define the role of possible risk factors for the development
of cystic fibrosis (CF)-related liver disease and to analyze the association between liver …

Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized
by chronic infections of the upper and lower airways and progressive lung failure. …

Lung transplantation (Tx) is an optional treatment for cystic fibrosis (CF) patients with end‐stage
lung disease. The decision to place a patient on the Tx waiting list is frequently complex, …

Background: Increased levels of oxidative stress result in pulmonary damage contributing to
the development of chronic lung disease in cystic fibrosis (CF). The aim of this study was to …