ReviewJournal of clinical medicine2014
Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.
Review in Journal of clinical medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.medRxiv : the preprint server for health sciences · 2026Article
- Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.Medicine and pharmacy reports · 2025Article
- Kartagener syndrome with pectus excavatum and upper lobar bronchiectasis.Radiology case reports · 2024Article
- Article
- Clinical Characteristics and Immune Responses in Children with Primary Ciliary Dyskinesia during Pneumonia Episodes: A Case-Control Study.Children (Basel, Switzerland) · 2023Article
- Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.Children (Basel, Switzerland) · 2023Article
- Basic, translational and clinical aspects of bronchiectasis in adults.European respiratory review : an official journal of the European Respiratory Society · 2023Article
- Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico.Advances in respiratory medicine · 2022Article
- Comparison of ciliary beat frequencies at different temperatures in young adults.ERJ open research · 2020Article
- Review
- Chronic Rhinosinusitis in Children: Pathophysiology, Evaluation, and Medical Management.Current allergy and asthma reports · 2018Review
- Diagnosis of cystic fibrosis in an adult Japanese male.Journal of general and family medicine · 2018Article
- Cilia and Ciliopathies in Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2017Review
- Precision reproductive medicine: multigene panel testing for infertility risk assessment.Journal of assisted reproduction and genetics · 2017Review
- Ciliopathies: Genetics in Pediatric Medicine.Journal of pediatric genetics · 2017Review
- Persistent Bacterial Bronchitis: Time to Venture beyond the Umbrella.Frontiers in pediatrics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive condition affecting around 1:15,000. In people with PCD, microscopic motile cilia do not move normally resulting in impaired clearance of mucus and debris leading to repeated sinopulmonary infection. If diagnosis is delayed, permanent bronchiectasis and deterioration of lung function occurs. Other complications associated with PCD include congenital heart disease, hearing impairment and infertility. A small number of longitudinal studies suggest that lung function deteriorates before diagnosis of PCD but may stabilise following diagnosis with subsequent specialist management. Early diagnosis is therefore essential, but for a number of reasons referral for diagnostic testing is often delayed until older childhood or even adulthood. Functional diagnostic tests for PCD are expensive, time consuming and require specialist equipment and scientists. In the last few years, there have been considerable developments to identify genes associated with PCD, currently enabling 65% of patients to be identified by bi-allelic mutations. The rapid identification of new genes continues. This review will consider the evidence that early diagnosis of PCD is beneficial. It will review the recent advances in identification of PCD-associated genes and will discuss the role of genetic testing in PCD. It will then consider whether screening for PCD antenatally or in the new born is likely to become a feasible and acceptable for this rare disease.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.