Rationale: Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder
characterized by abnormal mucociliary clearance and obstructive lung disease. We …

Rationale Variability in pulmonary disease severity is found in patients with cystic fibrosis
(CF) who have identical mutations in the CF transmembrane conductance regulator (CFTR) …

Rationale: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly
understood. Objectives: To describe early lung disease progression in primary ciliary …

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Despite having identical cystic fibrosis transmembrane conductance regulator genotypes,
individuals with ΔF508 homozygous cystic fibrosis (CF) demonstrate significant variability in …

Cilia are small cellular projections that either act as sensors (primary cilia) or propel fluid
over the epithelia of various organs (motile cilia). The organellum has gained much attention …

Rationale: Genotype–phenotype relationships are emerging in primary ciliary dyskinesia
(PCD), but little is known about lung volume changes over time. Objectives: To investigate …

Objective It has been assumed that cystic fibrosis (CF) lung disease is due in part to
abnormal airway mucus. Primary ciliary dyskinesia (PCD) is a form of bronchiectasis that is …

Results One hundred and thirty-five patients≥ 5 years of age were enrolled. There were
1,155 study visits, with a mean 9 visits per patient (range, 2-20); 24 participants completed …

Once upon a time, many diagnoses were easydfor example, if you had a high sweat
chloride, you had cystic fibrosis (CF); if the sweat electrolytes were normal, you did not. Now …