• A 12-year-old girl with primary ciliary dyskinesia and CFTR-related disorder treated with elexacaftor/tezacaftor/ivacaftor
• A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea
• A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia
• A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans
• A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia
• A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review
• A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report
• 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
• Alexithymia in primary ciliary dyskinesia
• Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
• Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study
• Biallelic Variants in <em>MNS1</em> Are Associated with Laterality Defects and Respiratory Involvement
• Burkholderia cepacia complex in primary ciliary dyskinesia
• Calaxin is a key factor for calcium-dependent waveform control in zebrafish sperm
• Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis
• Characterization of the ciliary beating efficiency in primary diffuse chronic rhinosinusitis
• Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
• Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene
• 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
• 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
• Do Causes Influence Functional Aspects and Quality of Life in Patients with Nonfibrocystic Bronchiectasis?
• EMBARCing on a new era for bronchiectasis: a review series for the Seventh World Bronchiectasis Conference
• Establishment of Cardiac Laterality
• Estimates of primary ciliary dyskinesia prevalence: a scoping review
• Evaluation of screening tools for primary ciliary dyskinesia in Egypt: single center study
• First case of primary ciliary dyskinesia in an Alaska Native individual: Evidence supporting the presence of a founder effect
• 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
• Human Genetics of Defects of Situs
• Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes
• Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia
• Kartagener syndrome with pectus excavatum and upper lobar bronchiectasis
• Kartagener's Syndrome Complicated by Bronchiectasis with Tricuspid and Mitral Valve Regurgitation: A Case Report
• Kartagener's Syndrome: A Case Series
• Kartagener's syndrome: A rare condition diagnosed in a young male patient
• Late Diagnosis of Kartagener Syndrome in an Adult Female
• Looking beyond LCI: Multiple breath washout phase III slope derived indices and their application in chronic respiratory disease in children
• Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy
• Molecular Pathways and Animal Models of Defects in Situs
• 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
• Multi-institutional Assessment of Otitis Media Epidemiology Using Real-world Data
• 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
• Not all are the same: the power of registries in defining genotype-phenotype relationships in primary ciliary dyskinesia
• Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population
• 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)
• Pädiatrische Rhinologie
• Pediatric Pulmonology 2023 year in review: Rare and diffuse lung disease
• 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 cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2
• Primary Ciliary Dyskinesia
• Primary ciliary dyskinesia
• Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene
• 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 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 Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia
• 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
• Primary Ciliary Dyskinesia with Identical Genotype but Distinct Phenotypes in Two Siblings
• Primary Ciliary Dyskinesia: A Clinical Review
• 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
• Recognizing clinical features of primary ciliary dyskinesia in the perinatal period
• Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients
• Regional anesthesia in a patient with primary ciliary dyskinesia: A case report
• Respiratory Aspects of Primary Ciliary Dyskinesia
• Reversing the Norm: Successful Cholecystectomy in a Patient With Situs Inversus
• Short Cilia, Immunodeficiency, and Cystic Fibrosis in a Mother-Daughter Pair
• Situs Inversus Totalis in a Newborn With Primary Ciliary Dyskinesia
• Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
• Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study
• The <em>Odad3</em> Gene Is Necessary for Spermatozoa Development and Male Fertility in Mice
• The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multi-ciliated cells
• The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multiciliated cells
• The Coronavirus Disease 2019 Pandemic and Time to Diagnosis for Childhood Pulmonary Diseases: Outcomes of a Tertiary Care Center
• The expanding clinical and genetic spectrum of DYNC1H1-related disorders
• The Non-Invasive Detection of Pulmonary Exacerbations in Disorders of Mucociliary Clearance with Breath Analysis: A Systematic Review
• 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
• Thermal energy and electroosmotic for biomimetic artificial olfactory cilia in tri-hybrid nanofluids: Entropy-defying approaches
• Three cases of sperm immobility for intracytoplasmic sperm injection using testicular sperm
• Transcriptional analysis of primary ciliary dyskinesia airway cells reveals a dedicated cilia glutathione pathway
• Transcriptional regulation of CCNO during the formation of multiple motile cilia
• Transient Complete Asthenozoospermia
• 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
• Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India
• Validation of Polish-Language Questionnaires for Assessing the Quality of Life of Patients with Primary Ciliary Dyskinesia (PCD-QOL)
• Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia