Disease: Primary ciliary dyskinesia
- 'Don't let it hold you back' - The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis
- A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia
- A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility
- Absolute quantitation of human wild-type DNAI1 protein in lung tissue using a nanoLC-PRM-MS-based targeted proteomics approach coupled with immunoprecipitation
- Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis
- An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges
- An evaluation of an open access iPSC training course: "How to model interstitial lung disease using patient-derived iPSCs"
- Antigen stasis and airway nitrosative stress in human primary ciliary dyskinesia
- Assessment of wood smoke induced pulmonary toxicity in normal- and chronic bronchitis-like bronchial and alveolar lung mucosa models at air-liquid interface
- Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study
- BMI1 Transduction of Human Airway Epithelial Cells for Expansion of Proliferation and Differentiation
- Bronchodilator responsiveness in children with primary ciliary dyskinesia
- CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans
- Changes in Sleep in Children and Adults with Cystic Fibrosis and Primary Ciliary Dyskinesia over Time and after CFTR Modulator Therapy
- Cilia-related diseases
- Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
- Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2
- Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study
- Clinical Characteristics and Immune Responses in Children with Primary Ciliary Dyskinesia during Pneumonia Episodes: A Case-Control Study
- Clinical implications of respiratory ciliary dysfunction in heterotaxy patients with congenital heart disease: elevated risk of postoperative airway complications
- Clinical Manifestations and Genotype of Primary Ciliary Dyskinesia Diagnosed in Korea: Multicenter Study
- Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
- Comparative study of immunodeficient rat strains in engraftment of hiPSC-derived airway epithelia
- Comparison of respiratory functions, muscle strength, and physical activity among children with primary ciliary dyskinesia with and without Kartagener's syndrome and healthy controls
- Correlation between COVID-19 infection and fetal situs inversus
- Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge
- Decoding negative genetic panels in primary ciliary dyskinesia
- Device comparison study to measure nasal nitric oxide in relation to primary ciliary dyskinesia
- Diagnosis of Eosinophilic Otitis Media Using Blood Eosinophil Levels
- Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
- Disease Manifestations in Siblings with Primary Ciliary Dyskinesia
- Do Causes Influence Functional Aspects and Quality of Life in Patients with Nonfibrocystic Bronchiectasis?
- DPCD is a regulator of R2TP in ciliogenesis initiation through Akt signaling
- Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report
- Editorial: Developmental anomalies in the lung and their impact on later life
- Expert group recommendation on inhaled mucoactive drugs in pediatric respiratory diseases: an Indian perspective
- Fertility care among people with primary ciliary dyskinesia
- Functional and structural significance of the inner-arm-dynein subspecies d in ciliary motility
- Gasotransmitter research advances in respiratory diseases
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii
- Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene
- Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study
- Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis
- Identification of a novel <em>RPGR</em> mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report
- Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report
- Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan
- Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey
- Impaired lung function in infants with primary ciliary dyskinesia: A pilot Czech study
- Incidence, prevalence, and pattern of medical service utilization of children's rare lung diseases in South Korea
- Kartagener's syndrome: A rare condition diagnosed in a young male patient
- Lack of Correlation of Sinonasal and Otologic Reported Symptoms With Objective Measurements Among Patients With Primary Ciliary Dyskinesia: An International Study
- Letter to the editor regarding "Sinonasal quality of life in primary ciliary dyskinesia"
- Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy
- Mapping the Most Common Founder Variant in <em>RSPH9</em> That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
- Methylation of ciliary dynein motors involves the essential cytosolic assembly factor DNAAF3/PF22
- Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis
- MRI of Pulmonary and Paranasal Sinus Abnormalities in Children with Primary Ciliary Dyskinesia Compared to Children with Cystic Fibrosis
- Muco-Obstructive Lung Disease: A Systematic Review
- Mucus clears from the trachea in a helix: a new twist to understanding airway diseases
- Multi-institutional Assessment of Otitis Media Epidemiology Using Real-world Data
- Multi-scale structures of the mammalian radial spoke and divergence of axonemal complexes in ependymal cilia
- Nasal Nitric Oxide in Children: A Review of Current Outreach in Pediatric Respiratory Medicine
- Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience
- Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number Variations
- Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis
- Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia
- Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC)
- ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects
- Outer dynein arm docking complex subunit 2 polymorphism rs7893462 modulates hepatocellular carcinoma susceptibility and can serve as an overall survival biomarker for hepatitis B virus-related hepatocellular carcinoma after hepatectomy: a cohort study wit
- Practical guide for the diagnosis and management of primary ciliary dyskinesia
- PREFUL MRI for Monitoring Perfusion and Ventilation Changes after Elexacaftor-Tezacaftor-Ivacaftor Therapy for Cystic Fibrosis: A Feasibility Study
- Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene
- Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan
- Primary ciliary dyskinesia caused by mutation of CCNO29 gene in a family report
- Primary ciliary dyskinesia: a case of complete Kartagener's syndrome in a patient undergoing cesarean section
- Primary Ciliary Dyskinesia: A More Prevalent Disease Than Previously Believed?
- Pulmonary functions, nasal symptoms, and quality of life in patients with primary ciliary dyskinesia (PCD)
- Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia
- Quantification of Mastoid Air Cells and Opacification of the Middle Ear in Primary Ciliary Dyskinesia
- Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
- Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients
- Response to letter to the editor regarding "Sinonasal quality of life in primary ciliary dyskinesia"
- Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
- Role of Nasal Nitric Oxide in Primary Ciliary Dyskinesia and Other Respiratory Conditions in Children
- Situs ambiguus is associated with adverse clinical outcomes in children with primary ciliary dyskinesia
- Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
- Sleep Respiratory Disorders in Children and Adolescents with Cystic Fibrosis and Primary Ciliary Dyskinesia
- Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations
- Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study
- The airway microbiota in siblings with primary ciliary dyskinesia: Related factors and correlation with clinical characteristics
- The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings
- The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
- The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma
- The SPEC score-A quantifiable CT scoring system for primary ciliary dyskinesia
- The utility of nasal nitric oxide in the diagnostic evaluation of primary ciliary dyskinesia
- Three cases of sperm immobility for intracytoplasmic sperm injection using testicular sperm
- Ultrastructural cilia defects in multi-ciliated uterine glandular epithelial cells from women with reproductive failure
- Which side are they on? Diagnosing primary ciliary dyskinesias in low- or middle-income countries: A review and case series
- X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to <em>RPGR</em> variant: A case report and literature review