ArticleJournal of thoracic disease2019
Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus.
Article in Journal of thoracic disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.Frontiers in molecular biosciences · 2025Article
- 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
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.Pediatric pulmonology · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Review
- A Deep Intronic, Pathogenic Variant inAmerican journal of respiratory cell and molecular biology · 2022Article
- Observational study of health utilities in adult primary ciliary dyskinesia patients: preliminary data on associations with molecular diagnosis, clinical phenotype and HRQOL measures.Multidisciplinary respiratory medicine · 2022Article
- Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia.Genes · 2022Article
- Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Review
- A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.BMC medical genetics · 2020Article
- Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice.Scientific reports · 2020Article
- Registries and collaborative studies for primary ciliary dyskinesia in Europe.ERJ open research · 2020Review
- Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia.Cells · 2019Review
- The value of nasal nitric oxide measurement in the diagnosis of primary ciliary dyskinesia.Pediatric investigation · 2019Article
- Nasal nitric oxide measurement for primary ciliary dyskinesia diagnosis: The impact of underlying genetic defects on diagnostic accuracy.Pediatric investigation · 2019Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is an inherited ciliary motility disorder caused by mutations in at least 40 genes.
methodsWe performed whole exome sequencing in suspect patients from Cyprus who on repeated cilia biopsies demonstrated loss of the central pair apparatus on Transmission Electron Microscopy (TEM) and rotary beating patterns on High Speed Video Microscopy (HSVM), compatible to findings described previously in PCD patients bearing pathogenic
resultsWe diagnosed 7 individuals (5 females) homozygous for the novel
conclusionsIn conclusion, RSPH9-associated PCD disease demonstrates wide phenotypic variability. In some cases, mild clinical presentation is difficult to justify diagnostic work-up, highlighting the importance of wider adoption of genetic diagnostics. Larger studies are needed to assess variability of clinical spectrum associated to alterations of PCD genes.
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