Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies
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Title
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies
Authors
Keywords
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Journal
Frontiers in Pediatrics
Volume 5, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2017-06-09
DOI
10.3389/fped.2017.00135
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Note: Only part of the references are listed.- A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia
- (2017) Tamara Paff et al. EUROPEAN RESPIRATORY JOURNAL
- Recurrent Pneumonia in Children: A Reasoned Diagnostic Approach and a Single Centre Experience
- (2017) Silvia Montella et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Diagnosing primary ciliary dyskinesia: an international patient perspective
- (2016) Laura Behan et al. EUROPEAN RESPIRATORY JOURNAL
- Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis
- (2016) Myrofora Goutaki et al. EUROPEAN RESPIRATORY JOURNAL
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
- (2016) Jane S. Lucas et al. EUROPEAN RESPIRATORY JOURNAL
- A longitudinal study characterising a large adult primary ciliary dyskinesia population
- (2016) Anand Shah et al. EUROPEAN RESPIRATORY JOURNAL
- Gene editing ofDNAH11restores normal cilia motility in primary ciliary dyskinesia
- (2016) Michele Lai et al. JOURNAL OF MEDICAL GENETICS
- Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel
- (2016) Francesca Boaretto et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Motile and non-motile cilia in human pathology: from function to phenotypes
- (2016) Hannah M Mitchison et al. JOURNAL OF PATHOLOGY
- Genetics and biology of primary ciliary dyskinesia
- (2016) Amjad Horani et al. Paediatric Respiratory Reviews
- Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia
- (2016) Helene E. Kobbernagel et al. BMC Pulmonary Medicine
- 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
- SnapShot: Sensing and Signaling by Cilia
- (2015) Kurt Zimmerman et al. CELL
- A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia
- (2015) M.C. Alanin et al. CLINICAL MICROBIOLOGY AND INFECTION
- An international registry for primary ciliary dyskinesia
- (2015) Claudius Werner et al. EUROPEAN RESPIRATORY JOURNAL
- Non-cystic fibrosis bronchiectasis in children: Clinical profile, etiology and outcome
- (2015) Ajay Kumar et al. INDIAN PEDIATRICS
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review
- (2015) Adam J. Shapiro et al. PEDIATRIC PULMONOLOGY
- Lung structure-function correlation in patients with primary ciliary dyskinesia
- (2015) M. Boon et al. THORAX
- 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
- Diagnosis and management of primary ciliary dyskinesia
- (2014) J. S. Lucas et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism
- (2014) Ping Li et al. ASIAN JOURNAL OF ANDROLOGY
- 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
- Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Julia Wallmeier et al. NATURE GENETICS
- Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
- (2014) Mieke Boon et al. Orphanet Journal of Rare Diseases
- Clinical application of nasal nitric oxide measurement in pediatric airway diseases
- (2014) Angelo Manna et al. PEDIATRIC PULMONOLOGY
- Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia
- (2014) Marco Maglione et al. PEDIATRIC PULMONOLOGY
- Primary Ciliary Dyskinesia and Neonatal Respiratory Distress
- (2014) Tara Mullowney et al. PEDIATRICS
- Sleep disordered breathing and airway disease in primary ciliary dyskinesia
- (2014) Francesca Santamaria et al. RESPIROLOGY
- Inhaled mannitol for non-cystic fibrosis bronchiectasis: a randomised, controlled trial
- (2014) Diana Bilton et al. THORAX
- MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Mieke Boon et al. Nature Communications
- Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
- (2013) Esther Kott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Lung Clearance Index and High-Resolution Computed Tomography Scores in Primary Ciliary Dyskinesia
- (2013) Samantha J. Irving et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- 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
- Differences in Disease Expression Between Primary Ciliary Dyskinesia and Cystic Fibrosis With and Without Pancreatic Insufficiency
- (2013) Malena Cohen-Cymberknoh et al. CHEST
- Research update for articles published in EJCI in 2011
- (2013) Pasquale Abete et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- 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
- Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities
- (2013) Thomas W. Ferkol et al. JOURNAL OF PEDIATRICS
- The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
- (2013) Maureen Wirschell et al. NATURE GENETICS
- Comparison of conventional pulmonary rehabilitation and high-frequency chest wall oscillation in primary ciliary dyskinesia
- (2013) Yasemin Gokdemir et al. PEDIATRIC PULMONOLOGY
- 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
- Psychological, cognitive and maternal stress assessment in children with primary ciliary dyskinesia
- (2013) Marco Carotenuto et al. World Journal of Pediatrics
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- (2013) Tamara Svobodová et al. International Journal of Endocrinology
- Effect of inhaled dry powder mannitol on mucus and its clearance
- (2013) Evangelia Daviskas et al. Expert Review of Respiratory Medicine
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- (2012) Heike Olbrich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
- (2012) Alexandros Onoufriadis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
- (2012) Nader Nakhleh et al. CIRCULATION
- Long-term macrolide treatment for chronic respiratory disease
- (2012) Paolo Spagnolo et al. EUROPEAN RESPIRATORY JOURNAL
- Nitric oxide in primary ciliary dyskinesia
- (2012) Woolf T. Walker et al. EUROPEAN RESPIRATORY JOURNAL
- Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial
- (2012) Conroy Wong et al. LANCET
- Sleep disordered breathing in patients with primary ciliary dyskinesia
- (2012) Sedat Oktem 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
- Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy
- (2012) Andrew Bush et al. Expert Review of Respiratory Medicine
- Managing upper respiratory tract complications of primary ciliary dyskinesia in children
- (2011) Raewyn Campbell Current Opinion in Allergy and Clinical Immunology
- Pulmonary exacerbations in cystic fibrosis
- (2011) Antine E. Stenbit et al. CURRENT OPINION IN PULMONARY MEDICINE
- Measurement of nasal nitric oxide by hand-held and stationary devices
- (2011) Silvia Montella et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- Cardiopulmonary assessment in primary ciliary dyskinesia
- (2011) Giuliana Valerio et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
- (2011) C. O'Callaghan et al. EUROPEAN RESPIRATORY JOURNAL
- Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- (2011) A Shoemark et al. JOURNAL OF CLINICAL PATHOLOGY
- Effect of dornase alfa on inflammation and lung function: Potential role in the early treatment of cystic fibrosis
- (2011) Michael W. Konstan et al. Journal of Cystic Fibrosis
- 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
- Feasibility and Variability of Measuring the Lung Clearance Index in a Multi-Center Setting
- (2011) Susanne I. Fuchs et al. PEDIATRIC PULMONOLOGY
- Progression of lung disease in primary ciliary dyskinesia: Is spirometry less accurate than CT?
- (2011) Marco Maglione et al. PEDIATRIC PULMONOLOGY
- Nebulised 7% hypertonic saline improves lung function and quality of life in bronchiectasis
- (2011) Fiona Kellett et al. RESPIRATORY MEDICINE
- Magnetic resonance imaging is an accurate and reliable method to evaluate non-cystic fibrosis paediatric lung disease
- (2011) SILVIA MONTELLA et al. RESPIROLOGY
- Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
- (2011) Michael R Knowles et al. THORAX
- Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists
- (2011) Paul C. Stillwell et al. Pediatric Allergy Immunology and Pulmonology
- 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
- 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
- Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia
- (2010) M. Pifferi et al. EUROPEAN RESPIRATORY JOURNAL
- Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia
- (2010) J. K. Marthin et al. EUROPEAN RESPIRATORY JOURNAL
- Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
- (2010) C. E. Kuehni et al. EUROPEAN RESPIRATORY JOURNAL
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
- (2010) Anne-Christine Merveille et al. NATURE GENETICS
- British Thoracic Society guideline for non-CFbronchiectasis
- (2010) M. C. Pasteur et al. THORAX
- Bronchiectasis in Children: 10-Year Experience at a Single Institution
- (2010) Hyoung-Young Kim et al. Allergy Asthma & Immunology Research
- Heart-Lung Transplantation In Situs Inversus Totalis
- (2009) Tobias Deuse et al. ANNALS OF THORACIC SURGERY
- High prevalence of primary ciliary dyskinesia in a British Asian population
- (2009) C O'Callaghan et al. ARCHIVES OF DISEASE IN CHILDHOOD
- A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
- (2009) J. F. Papon et al. EUROPEAN RESPIRATORY JOURNAL
- Assessment of Chest High-Field Magnetic Resonance Imaging in Children and Young Adults With Noncystic Fibrosis Chronic Lung Disease
- (2009) Silvia Montella et al. INVESTIGATIVE RADIOLOGY
- Structural and Functional Lung Disease in Primary Ciliary Dyskinesia
- (2008) Francesca Santamaria et al. CHEST
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
- (2008) Heymut Omran et al. NATURE
- Early lung disease in young children with primary ciliary dyskinesia
- (2008) David E. Brown et al. PEDIATRIC PULMONOLOGY
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations
- (2007) Georg C. Schwabe et al. HUMAN MUTATION
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