Associated Papers
Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.
Nussstein H et al.
The European Respiratory Journal, 2026
40967762 (PubMed )
Supplement: ERJ-00616-2025.Supplement.pdf
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.
Karakoç E et al.
Journal of Clinical Medicine, 2025
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Pleuropneumonia caused by Nocardia cyriacigeorgica in a 14-year-old girl with primary ciliary dyskinesia.
Urbantat RM et al.
Pediatric Pulmonology, 2023
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.
Zhou L et al.
Molecular Medicine Reports, 2020
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A et al.
Erj Open Research, 2020
33447612 (PubMed )
Supplement: 00213-2020.SUPPLEMENT.pdf
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Raidt J et al.
The European Respiratory Journal, 2014
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Loges NT et al.
American Journal of Human Genetics, 2009
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