Published in Am J Respir Crit Care Med on December 04, 2003
Registry Study on Primary Ciliary Dyskinesia in Chinese Children | NCT02704455
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest (2014) 3.15
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med (2009) 2.71
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Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med (2005) 2.25
Clinical significance of microbial infection and adaptation in cystic fibrosis. Clin Microbiol Rev (2011) 2.23
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med (2013) 2.09
Mutations in Hydin impair ciliary motility in mice. J Cell Biol (2008) 2.06
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet (2013) 1.90
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med (2006) 1.80
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet (2009) 1.65
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
Alcohol and airways function in health and disease. Alcohol (2007) 1.53
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.53
Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc (2013) 1.49
Generation of multiciliated cells in functional airway epithelia from human induced pluripotent stem cells. Proc Natl Acad Sci U S A (2014) 1.47
Noninvasive real-time measurement of nasal mucociliary clearance in mice by pinhole gamma scintigraphy. J Appl Physiol (1985) (2009) 1.44
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation (2012) 1.44
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. J Med Genet (2005) 1.44
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med (2011) 1.42
Inactivation of Chibby affects function of motile airway cilia. J Cell Biol (2009) 1.38
Elective cesarean section: its impact on neonatal respiratory outcome. Clin Perinatol (2008) 1.34
Diagnosing primary ciliary dyskinesia. Thorax (2007) 1.31
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet Med (2008) 1.29
Temporal relationship between primary and motile ciliogenesis in airway epithelial cells. Am J Respir Cell Mol Biol (2010) 1.28
Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child (2014) 1.26
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet (2013) 1.24
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Respir Cell Mol Biol (2009) 1.22
Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol (2011) 1.22
Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr (2009) 1.21
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet (2013) 1.19
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet (2013) 1.17
The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc (2011) 1.16
Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr (2012) 1.14
Diagnosis and management of primary ciliary dyskinesia. Cilia (2015) 1.14
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One (2013) 1.12
Recent advances in primary ciliary dyskinesia genetics. J Med Genet (2014) 1.10
Lung manifestations in an autopsy-based series of pulmonary or disseminated nontuberculous mycobacterial disease. Chest (2011) 1.10
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med (2015) 1.09
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. Am J Respir Crit Care Med (2013) 1.04
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One (2013) 1.04
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis (2014) 1.03
Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J Pediatr (2011) 1.03
Barrier function of airway tract epithelium. Tissue Barriers (2013) 1.02
Pulmonary nontuberculous mycobacterial infections in hyper-IgE syndrome. J Allergy Clin Immunol (2009) 1.01
Mucociliary and long-term particle clearance in airways of patients with immotile cilia. Respir Res (2006) 1.00
Genetics of chronic rhinosinusitis: state of the field and directions forward. J Allergy Clin Immunol (2013) 1.00
Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc (2011) 0.98
ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryngol (2010) 0.97
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. Am J Respir Cell Mol Biol (2008) 0.96
Congenital heart disease and the specification of left-right asymmetry. Am J Physiol Heart Circ Physiol (2012) 0.94
Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol (2010) 0.93
Primary ciliary dyskinesia in Amish communities. J Pediatr (2010) 0.92
Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure. Cytoskeleton (Hoboken) (2012) 0.92
Pulmonary nontuberculous mycobacterial disease: new insights into risk factors for susceptibility, epidemiology, and approaches to management in immunocompetent and immunocompromised patients. Curr Infect Dis Rep (2010) 0.92
Clinical spectrum of primary ciliary dyskinesia in childhood. World J Clin Pediatr (2016) 0.91
Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images. J Appl Physiol (1985) (2011) 0.91
Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol (2015) 0.91
Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics (2014) 0.91
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet J Rare Dis (2012) 0.91
Abnormal nasal nitric oxide production, ciliary beat frequency, and Toll-like receptor response in pulmonary nontuberculous mycobacterial disease epithelium. Am J Respir Crit Care Med (2013) 0.90
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat (2013) 0.89
Impact of genetic diagnosis on clinical management of patients with congenital heart disease: cilia point the way. Circulation (2012) 0.89
Isolation and characterization of microparticles in sputum from cystic fibrosis patients. Respir Res (2010) 0.89
Otologic features in children with primary ciliary dyskinesia. Arch Otolaryngol Head Neck Surg (2010) 0.89
[Primary ciliary dyskinesia (Pcd) in Austria]. Wien Klin Wochenschr (2009) 0.88
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc (2016) 0.87
Sensory functions of motile cilia and implication for bronchiectasis. Front Biosci (Schol Ed) (2012) 0.87
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle. BMC Genomics (2016) 0.87
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc (2014) 0.87
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J (2016) 0.87
Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev (2015) 0.86
Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res (2010) 0.84
Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure. Eur J Pediatr (2013) 0.84
Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists. Pediatr Allergy Immunol Pulmonol (2011) 0.84
Interferon γ stimulates accumulation of gas phase nitric oxide in differentiated cultures of normal and cystic fibrosis airway epithelial cells. Lung (2012) 0.83
A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD. Eur Respir J (2015) 0.83
Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia. Int J Endocrinol (2013) 0.83
Enhanced response to pulmonary Streptococcus pneumoniae infection is associated with primary ciliary dyskinesia in mice lacking Pcdp1 and Spef2. Cilia (2013) 0.82
Primary ciliary dyskinesia. Semin Respir Crit Care Med (2015) 0.82
Kartagener syndrome. Int J Gen Med (2011) 0.82
Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia. J Clin Microbiol (2013) 0.82
A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections. Semin Immunopathol (2016) 0.81
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet (2010) 0.81
Nasal nitric oxide and lifestyle exposure to tobacco smoke. Ann Otol Rhinol Laryngol (2011) 0.81
Aerobic fitness in children and young adults with primary ciliary dyskinesia. PLoS One (2013) 0.81
Human airway ciliary dynamics. Am J Physiol Lung Cell Mol Physiol (2012) 0.80
Cystic fibrosis in adults. Lung (2007) 0.79
Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings. Ital J Pediatr (2009) 0.79
[Primary ciliary dyskinesia]. Wien Klin Wochenschr (2009) 0.78
Ciliary ultrastructure in two sisters with Kartagener's syndrome. Med Mol Morphol (2007) 0.78
Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis. BMC Pulm Med (2015) 0.78
In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases. J Appl Genet (2010) 0.78
Hypertonic Saline Therapy in Cystic Fibrosis: Do Population Shifts Caused by the Osmotic Sensitivity of Infecting Bacteria Explain the Effectiveness of this Treatment? Front Microbiol (2010) 0.78
Follicular bronchiolitis in primary ciliary dyskinesia. Australas Med J (2014) 0.78
Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives. J Clin Med (2014) 0.78
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr (2013) 0.77
A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms. Ultrastruct Pathol (2013) 0.77
Primary Ciliary Dyskinesia. Clin Chest Med (2016) 0.77
An official ATS clinical practice guideline: interpretation of exhaled nitric oxide levels (FENO) for clinical applications. Am J Respir Crit Care Med (2011) 5.53
Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med (2005) 5.51
Mucus clearance and lung function in cystic fibrosis with hypertonic saline. N Engl J Med (2006) 5.37
Nontuberculous mycobacteria. I: multicenter prevalence study in cystic fibrosis. Am J Respir Crit Care Med (2002) 4.75
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation (2007) 4.17
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet (2011) 3.02
Genetic defects in ciliary structure and function. Annu Rev Physiol (2007) 2.94
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med (2009) 2.71
Nontuberculous mycobacteria. II: nested-cohort study of impact on cystic fibrosis lung disease. Am J Respir Crit Care Med (2002) 2.41
Air pollution and brain damage. Toxicol Pathol (2002) 2.27
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med (2005) 2.25
Regulation of airway tight junctions by proinflammatory cytokines. Mol Biol Cell (2002) 2.18
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med (2013) 2.09
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature (2009) 2.05
Role of claudin interactions in airway tight junctional permeability. Am J Physiol Lung Cell Mol Physiol (2003) 1.99
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet (2013) 1.90
Genetic modifiers of liver disease in cystic fibrosis. JAMA (2009) 1.88
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med (2006) 1.80
What is cystic fibrosis? N Engl J Med (2002) 1.76
Bacterial penetration of bladder epithelium through lipid rafts. J Biol Chem (2004) 1.72
Physiologic, bronchoscopic, and bronchoalveolar lavage fluid findings in young children with recurrent wheeze and cough. Pediatr Pulmonol (2006) 1.65
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials. Pediatr Pulmonol (2004) 1.64
Classifying severity of cystic fibrosis lung disease using longitudinal pulmonary function data. Am J Respir Crit Care Med (2006) 1.63
Computed tomography reflects lower airway inflammation and tracks changes in early cystic fibrosis. Am J Respir Crit Care Med (2007) 1.55
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.53
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med (2002) 1.49
Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc (2013) 1.49
Histoplasmosis after treatment with anti-tumor necrosis factor-alpha therapy. Am J Respir Crit Care Med (2003) 1.47
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation (2012) 1.44
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
Nontuberculous mycobacterial infection in young children with cystic fibrosis. Pediatr Pulmonol (2005) 1.42
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med (2011) 1.42
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat (2013) 1.31
Claudin-18: a dominant tight junction protein in Barrett's esophagus and likely contributor to its acid resistance. Am J Physiol Gastrointest Liver Physiol (2007) 1.29
Reduced expression of IRF7 in nasal epithelial cells from smokers after infection with influenza. Am J Respir Cell Mol Biol (2009) 1.29
Diesel exhaust enhances influenza virus infections in respiratory epithelial cells. Toxicol Sci (2005) 1.27
High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol (2007) 1.26
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat Genet (2012) 1.26
Cystic fibrosis airway secretions exhibit mucin hyperconcentration and increased osmotic pressure. J Clin Invest (2014) 1.26
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet (2013) 1.24
Quantification of population structure using correlated SNPs by shrinkage principal components. Hum Hered (2010) 1.24
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med (2007) 1.23
Bronchoalveolar lavage fluid surfactant protein-A and surfactant protein-D are inversely related to inflammation in early cystic fibrosis. Am J Respir Crit Care Med (2003) 1.22
Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol (2011) 1.22
Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr (2009) 1.21
Low-level ozone exposure induces airways inflammation and modifies cell surface phenotypes in healthy humans. Inhal Toxicol (2010) 1.20
Increased nasal epithelial ciliary beat frequency associated with lifestyle tobacco smoke exposure. Inhal Toxicol (2009) 1.20
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet (2013) 1.19
Biologic effects of oil fly ash. Environ Health Perspect (2002) 1.18
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet (2013) 1.17
The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc (2011) 1.16
Low-dose airborne endotoxin exposure enhances bronchial responsiveness to inhaled allergen in atopic asthmatics. J Allergy Clin Immunol (2003) 1.16