Disease: Primary ciliary dyskinesia- 3
- 'Don't let it hold you back' - The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis
- <em>DNAH11</em> and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature
- A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
- A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review
- A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification
- A range of 30%-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance
- Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis
- 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
- Baseline reticular basement membrane morphology is related to subsequent spirometry deterioration in pediatric chronic airway inflammation: a follow-up study
- Biallelic Variants in <em>MNS1</em> Are Associated with Laterality Defects and Respiratory Involvement
- Bilateral Lung Transplantation in Kartagener's Syndrome and Situs Inversus
- Bronchiectasis Assessment in Primary Ciliary Dyskinesia: A Non-Invasive Approach Using Forced Oscillation Technique
- 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
- 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 Manifestations and Genotype of Primary Ciliary Dyskinesia Diagnosed in Korea: Multicenter Study
- Clinical Significance of Mucor in Airway Culture of Immunocompetent Patients With Chronic Lung Disease
- Correlation between COVID-19 infection and fetal situs inversus
- Decoding negative genetic panels in primary ciliary dyskinesia
- Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
- Developmental Expression of the Cell Cycle Regulator p16<sup>INK4a</sup> in Retinal Glial Cells: A Novel Marker for Immature Ocular Astrocytes?
- 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
- ERS International Congress 2022: highlights from the Respiratory Infections Assembly
- Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia
- Fertility care among people with primary ciliary dyskinesia
- FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii
- Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study
- Genetics of 67 patients of suspected primary ciliary dyskinesia from India
- Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
- Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey
- Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia
- Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia
- Left-Sided Laparoscopic Appendectomy in a Pediatric Patient With Situs Inversus Totalis
- 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
- MRI of Pulmonary and Paranasal Sinus Abnormalities in Children with Primary Ciliary Dyskinesia Compared to Children with Cystic Fibrosis
- 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
- 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
- Novel homozygous mutations in TXNDC15 causing Meckel syndrome
- Novel mutations in <em>RSPH4A</em> and <em>TTN</em> genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
- 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)
- Olfaction and Gustation in Children With Primary Ciliary Dyskinesia
- Otolaryngological burden of disease in children with primary ciliary dyskinesia in Victoria, Australia
- Outcomes of Endoscopic Sinus Surgery for Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia
- 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)
- Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
- Regional anesthesia in a patient with primary ciliary dyskinesia: A case report
- Respiratory Aspects of 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
- Short Cilia, Immunodeficiency, and Cystic Fibrosis in a Mother-Daughter Pair
- Sinonasal disease among patients with primary ciliary dyskinesia: an international study
- Situs Inversus Totalis in a Newborn With 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
- Temporal Stability of Ciliary Beating Post Nasal Brushing, Modulated by Storage Temperature
- The airway microbiota in siblings with primary ciliary dyskinesia: Related factors and correlation with clinical characteristics
- 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 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 relationship between lung function, exercise capacity, oxidant and antioxidant response in primary ciliary dyskinesia and cystic fibrosis
- 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
- Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
- Un cas de <em>situs inversus</em> complet associé à une communication interventriculaire et des anomalies oculaires chez une chienne croisée de 3 ans
- Which side are they on? Diagnosing primary ciliary dyskinesias in low- or middle-income countries: A review and case series
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
