Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review
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Title
Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review
Authors
Keywords
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Journal
PEDIATRIC PULMONOLOGY
Volume 51, Issue 2, Pages 115-132
Publisher
Wiley
Online
2015-09-29
DOI
10.1002/ppul.23304
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Note: Only part of the references are listed.- RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
- (2015) Ludovic Jeanson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype
- (2015) Stephanie D. Davis et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
- (2015) Adrien Frommer et al. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- Cilia Dysfunction in Lung Disease
- (2015) Ann E. Tilley et al. Annual Review of Physiology
- Lung structure-function correlation in patients with primary ciliary dyskinesia
- (2015) M. Boon et al. THORAX
- CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
- (2014) Rim Hjeij et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
- (2014) Michael R. Knowles et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia
- (2014) Adam J Shapiro et al. CHEST
- Primary Ciliary Dyskinesia and Cystic Fibrosis
- (2014) Jane S. Lucas et al. CHEST
- Prospective Characterization of Protracted Bacterial Bronchitis in Children
- (2014) Danielle F. Wurzel et al. CHEST
- Diagnostic accuracy of nitric oxide measurements to detect primary ciliary dyskinesia
- (2014) Mieke Boon et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- Inhaled antibiotics for stable non-cystic fibrosis bronchiectasis: a systematic review
- (2014) A. M. Brodt et al. EUROPEAN RESPIRATORY JOURNAL
- Diagnosis of primary ciliary dyskinesia: searching for a gold standard
- (2014) Jane S. Lucas et al. EUROPEAN RESPIRATORY JOURNAL
- Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis
- (2014) Samuel A. Collins et al. EUROPEAN RESPIRATORY JOURNAL
- Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
- (2014) Johanna Raidt et al. EUROPEAN RESPIRATORY JOURNAL
- Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
- (2014) Alexandros Onoufriadis et al. HUMAN MOLECULAR GENETICS
- Two Cases of Primary Ciliary Dyskinesia with Different Responses to Macrolide Treatment
- (2014) Takashi Kido et al. INTERNAL MEDICINE
- Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p
- (2014) Adam J. Shapiro et al. JOURNAL OF PEDIATRICS
- Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever
- (2014) Deniz Çetin et al. Modern Rheumatology
- Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Julia Wallmeier et al. NATURE GENETICS
- Response to Snijders et al.
- (2014) Amjad Horani et al. PEDIATRIC RESEARCH
- Surgical Treatments for Otitis Media With Effusion: A Systematic Review
- (2014) I. F. Wallace et al. PEDIATRICS
- Primary Ciliary Dyskinesia and Neonatal Respiratory Distress
- (2014) Tara Mullowney et al. PEDIATRICS
- Primary ciliary dyskinesia and humoral immunodeficiency – Is there a missing link?
- (2014) Mieke Boon et al. RESPIRATORY MEDICINE
- MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Mieke Boon et al. Nature Communications
- Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias
- (2014) Amanda Harris et al. BMC Pulmonary Medicine
- Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
- (2013) Michael R. Knowles et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
- (2013) Michael R. Knowles et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia
- (2013) G. D'Andrea et al. BLOOD
- Phase 3 Randomized Study of the Efficacy and Safety of Inhaled Dry Powder Mannitol for the Symptomatic Treatment of Non-Cystic Fibrosis Bronchiectasis
- (2013) Diana Bilton et al. CHEST
- Differences in Disease Expression Between Primary Ciliary Dyskinesia and Cystic Fibrosis With and Without Pancreatic Insufficiency
- (2013) Malena Cohen-Cymberknoh et al. CHEST
- Effect of Long-term, Low-Dose Erythromycin on Pulmonary Exacerbations Among Patients With Non–Cystic Fibrosis Bronchiectasis
- (2013) David J. Serisier et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Effect of Azithromycin Maintenance Treatment on Infectious Exacerbations Among Patients With Non–Cystic Fibrosis Bronchiectasis
- (2013) Josje Altenburg et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Macrolides and Bronchiectasis
- (2013) J. Stuart Elborn et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Exhaled molecular profiles in the assessment of cystic fibrosis and primary ciliary dyskinesia
- (2013) T. Paff et al. Journal of Cystic Fibrosis
- The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
- (2013) Maureen Wirschell et al. NATURE GENETICS
- DYX1C1 is required for axonemal dynein assembly and ciliary motility
- (2013) Aarti Tarkar et al. NATURE GENETICS
- Hand-Held Tidal Breathing Nasal Nitric Oxide Measurement – A Promising Targeted Case-Finding Tool for the Diagnosis of Primary Ciliary Dyskinesia
- (2013) June Kehlet Marthin et al. PLoS One
- Aerobic Fitness in Children and Young Adults with Primary Ciliary Dyskinesia
- (2013) Astrid Madsen et al. PLoS One
- CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia
- (2013) Amjad Horani et al. PLoS One
- Treatment and outcomes of chronic rhinosinusitis in children with primary ciliary dyskinesia: where is the evidence? A qualitative systematic review
- (2013) David J. Mener et al. International Forum of Allergy & Rhinology
- Long-term azithromycin for Indigenous children with non-cystic-fibrosis bronchiectasis or chronic suppurative lung disease (Bronchiectasis Intervention Study): a multicentre, double-blind, randomised controlled trial
- (2013) Patricia C Valery et al. Lancet Respiratory Medicine
- Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
- (2012) Heike Olbrich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ciliary Beat Pattern Analysis Below 37°C May Increase Risk of Primary Ciliary Dyskinesia Misdiagnosis
- (2012) Claire L. Jackson et al. CHEST
- Primary ciliary dyskinesia, an orphan disease
- (2012) Mieke Boon et al. EUROPEAN JOURNAL OF PEDIATRICS
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
- (2012) Dinu Antony et al. HUMAN MUTATION
- Middle ear ventilation in children with primary ciliary dyskinesia
- (2012) Nikolaus E. Wolter et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- RPGRmutations might cause reduced orientation of respiratory cilia
- (2012) Zuzanna Bukowy-Bieryłło et al. PEDIATRIC PULMONOLOGY
- Longitudinal lung function and structural changes in children with primary ciliary dyskinesia
- (2012) Marie Lémery Magnin et al. PEDIATRIC PULMONOLOGY
- The long term effect of inhaled hypertonic saline 6% in non-cystic fibrosis bronchiectasis
- (2012) Caroline H.H. Nicolson et al. RESPIRATORY MEDICINE
- Randomised controlled trial of amoxycillin clavulanate in children with chronic wet cough
- (2012) Julie Marchant et al. THORAX
- Managing upper respiratory tract complications of primary ciliary dyskinesia in children
- (2011) Raewyn Campbell Current Opinion in Allergy and Clinical Immunology
- Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
- (2011) C. O'Callaghan et al. EUROPEAN RESPIRATORY JOURNAL
- Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
- (2011) Jonathan S Berg et al. GENETICS IN MEDICINE
- Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection
- (2011) Maurizio Renna et al. JOURNAL OF CLINICAL INVESTIGATION
- Diagnostic Value of Nasal Nitric Oxide Measured with Non-Velum Closure Techniques for Children with Primary Ciliary Dyskinesia
- (2011) Dimas Mateos-Corral et al. JOURNAL OF PEDIATRICS
- Defining pulmonary exacerbation in children with non-cystic fibrosis bronchiectasis
- (2011) Nitin Kapur et al. PEDIATRIC PULMONOLOGY
- Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: A multicenter experience
- (2011) J. Tod Olin et al. PEDIATRIC PULMONOLOGY
- Outcomes of Pseudomonas eradication therapy in patients with non-cystic fibrosis bronchiectasis
- (2011) Laura White et al. RESPIRATORY MEDICINE
- Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
- (2011) Michael R Knowles et al. THORAX
- Ventilation inhomogeneity in children with primary ciliary dyskinesia
- (2011) Kent Green et al. THORAX
- Primary care summary of the British Thoracic Society Guideline on the management of non-cystic fibrosis bronchiectasis
- (2011) Adam T Hill et al. Primary Care Respiratory Journal
- Lung Function in Patients with Primary Ciliary Dyskinesia
- (2010) June K. Marthin et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Otologic Features in Children With Primary Ciliary Dyskinesia
- (2010) Virginie Prulière-Escabasse et al. ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
- Ciliated Air-Liquid Cultures as an Aid to Diagnostic Testing of Primary Ciliary Dyskinesia
- (2010) Robert A. Hirst et al. CHEST
- ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities
- (2010) J. Ulrich Sommer et al. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
- Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia
- (2010) J. K. Marthin et al. EUROPEAN RESPIRATORY JOURNAL
- Primary Ciliary Dyskinesia that Responded to Long-Term, Low-Dose Clarithromycin
- (2010) Daisuke Yoshioka et al. INTERNAL MEDICINE
- Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations
- (2010) J. F. Papon et al. JOURNAL OF MEDICAL GENETICS
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- British Thoracic Society guideline for non-CFbronchiectasis
- (2010) M. C. Pasteur et al. THORAX
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
- (2009) Victoria H. Castleman et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia
- (2009) Wendy A. Stannard et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Heart-Lung Transplantation In Situs Inversus Totalis
- (2009) Tobias Deuse et al. ANNALS OF THORACIC SURGERY
- Disrupted ciliated epithelium shows slower ciliary beat frequency and increased dyskinesia
- (2009) B. Thomas et al. EUROPEAN RESPIRATORY JOURNAL
- Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
- (2009) Margaret W Leigh et al. GENETICS IN MEDICINE
- Management of otitis media with effusion in children with primary ciliary dyskinesia: A literature review
- (2009) R.G. Campbell et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Bacterial contamination of cystic fibrosis clinics
- (2009) Jonathan B. Zuckerman et al. Journal of Cystic Fibrosis
- DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
- (2008) Niki Tomas Loges et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal Dominant Polycystic Kidney Disease Is Associated With an Increased Prevalence of Radiographic Bronchiectasis
- (2008) James A. Driscoll et al. CHEST
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
- (2008) Heymut Omran et al. NATURE
- Management of primary ciliary dyskinesia: the lower airways
- (2008) Brigitte Fauroux et al. Paediatric Respiratory Reviews
- Early lung disease in young children with primary ciliary dyskinesia
- (2008) David E. Brown et al. PEDIATRIC PULMONOLOGY
- GRADE: an emerging consensus on rating quality of evidence and strength of recommendations
- (2008) Gordon H Guyatt et al. BMJ-British Medical Journal
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