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
Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.
Yuksel Kalyoncu M et al.
Frontiers in Molecular Biosciences, 2025
Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.
Xu W et al.
Frontiers in Pediatrics, 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
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 Gene Variants Associated with Primary Ciliary Dyskinesia.
Demir Eksi D et al.
Indian Journal of Pediatrics, 2022
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.
Wang L et al.
Frontiers in Genetics, 2022
Structure of the radial spoke head and insights into its role in mechanoregulation of ciliary beating.
Grossman-Haham I et al.
Nature Structural & Molecular Biology, 2021
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.
Emiralioğlu N et al.
Pediatric Pulmonology, 2020
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A et al.
American Journal of Respiratory Cell and Molecular Biology, 2015
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