Disease: Primary ciliary dyskinesia- 2
- '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 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea
- A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
- A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility
- Airway microbiota correlated with pulmonary exacerbation in primary ciliary dyskinesia patients
- An evaluation of an open access iPSC training course: "How to model interstitial lung disease using patient-derived iPSCs"
- Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
- Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
- 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
- Axonemal structures reveal mechanoregulatory and disease mechanisms
- Baseline reticular basement membrane morphology is related to subsequent spirometry deterioration in pediatric chronic airway inflammation: a follow-up study
- Bronchodilator responsiveness in children with primary ciliary dyskinesia
- Changes in Sleep in Children and Adults with Cystic Fibrosis and Primary Ciliary Dyskinesia over Time and after CFTR Modulator Therapy
- Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia
- 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 Significance of Mucor in Airway Culture of Immunocompetent Patients With Chronic Lung Disease
- Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
- Crystal structure of the stalk region of axonemal inner-arm dynein-d reveals unique features in the coiled-coil and microtubule-binding domain
- Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
- Depression, anxiety, and resilience during COVID-19 in Dutch patients with cystic fibrosis or primary ciliary dyskinesia and their caregivers
- Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
- Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study
- Diagnostic value of nasal nitric oxide for children with primary ciliary dyskinesia
- 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
- Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice
- Estimates of primary ciliary dyskinesia prevalence: a scoping review
- Etiology and clinical characteristics of a non-cystic fibrosis bronchiectasis cohort in a middle eastern population
- Fertility care among people with primary ciliary dyskinesia
- First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
- Gasotransmitter Research Advances in Respiratory Diseases
- Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene
- Genetics of 67 patients of suspected primary ciliary dyskinesia from India
- Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
- Immunobiology of a rationally-designed AAV2 capsid following intravitreal delivery in mice
- 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 and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia
- Incidence, prevalence, and pattern of medical service utilization of children's rare lung diseases in South Korea
- Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia
- Inherently disordered regions of axonemal dynein assembly factors
- Kartagener's Syndrome: A Case Series
- Magnetic Resonance Imaging of Pulmonary and Paranasal Sinus Abnormalities in Children with Primary Ciliary Dyskinesia Compared to Children with Cystic Fibrosis
- 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
- Move-PCD-a multi-center longitudinal randomized controlled superiority trial on the effect of a 6-month individualized supported physical activity (PA) program on quality of life (QoL) in children, adolescents, and adults with primary ciliary dyskinesia
- MRI of Pulmonary and Paranasal Sinus Abnormalities in Children with Primary Ciliary Dyskinesia Compared to Children with Cystic Fibrosis
- Mucolytic treatment of chronic rhinosinusitis in a murine model of primary ciliary dyskinesia
- 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
- Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number Variations
- Not all are the same: the power of registries in defining genotype-phenotype relationships in primary ciliary dyskinesia
- 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)
- 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
- Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center
- Primary Ciliary Dyskinesia
- Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7
- Primary Ciliary Dyskinesia in Adult Bronchiectasis - Data from the German Bronchiectasis Registry PROGNOSIS
- Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS
- Pulmonary functions, nasal symptoms, and quality of life in patients with primary ciliary dyskinesia (PCD)
- Quantification of Mastoid Air Cells and Opacification of the Middle Ear in Primary Ciliary Dyskinesia
- Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients
- Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
- Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients
- Regional anesthesia in a patient with primary ciliary dyskinesia: A case report
- Risk factors for the deterioration of pulmonary function in primary ciliary dyskinesia
- Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial
- Siewert-Kartagener's syndrome in a dog
- 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
- Targeting Epithelium Dysfunction and Impaired Nasal Biofilms to Treat Immunological, Functional, and Structural Abnormalities of Chronic Rhinosinusitis
- The Cilialyzer - A freely available open-source software for the analysis of mucociliary activity in respiratory cells
- The Coronavirus Disease 2019 Pandemic and Time to Diagnosis for Childhood Pulmonary Diseases: Outcomes of a Tertiary Care Center
- The effect of inspiratory muscle training in PCD and CF patients: A pilot study
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders
- The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
- The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
- The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma
- The relation between inspiratory muscle strength and bacterial colonization and other clinical factors in patients with non-cystic fibrosis bronchiectasis
- Three cases of sperm immobility for intracytoplasmic sperm injection using testicular sperm
- Transient Complete Asthenozoospermia
- Treatment response to pulmonary exacerbation in primary ciliary dyskinesia
- Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene
- Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
- Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India
