ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2022
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Nutrition and growth of primary ciliary dyskinesia patients: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Article
- ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.Cells · 2025Article
- Associations between respiratory pathogens and lung function in primary ciliary dyskinesia: cross-sectional analysis from the PROVALF-PCD cohort.ERJ open research · 2024Article
- Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.The European respiratory journal · 2024Article
- Estimates of primary ciliary dyskinesia prevalence: a scoping review.ERJ open research · 2024Article
- TheCells · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.Human reproduction open · 2024Article
- Sinonasal disease among patients with primary ciliary dyskinesia: an international study.ERJ open research · 2023Article
- ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.Frontiers in genetics · 2023Article
- Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear-nose-throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty-three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV
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