Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
出版年份 2013 全文链接
标题
Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
作者
关键词
-
出版物
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Volume 188, Issue 8, Pages 913-922
出版商
American Thoracic Society
发表日期
2013-06-25
DOI
10.1164/rccm.201301-0059ci
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
- (2013) Maureen Wirschell et al. NATURE GENETICS
- Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
- (2012) Amjad Horani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
- (2012) Esther Kott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
- (2012) Heike Olbrich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
- (2012) Michael R. Knowles 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
- Congenital heart disease and the specification of left-right asymmetry
- (2012) Richard J. B. Francis et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Human airway ciliary dynamics
- (2012) Patrick R. Sears et al. AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
- Ciliary Beat Pattern Analysis Below 37°C May Increase Risk of Primary Ciliary Dyskinesia Misdiagnosis
- (2012) Claire L. Jackson et al. CHEST
- High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
- (2012) Nader Nakhleh et al. CIRCULATION
- Impact of Genetic Diagnosis on Clinical Management of Patients With Congenital Heart Disease
- (2012) Martina Brueckner CIRCULATION
- Nitric oxide in primary ciliary dyskinesia
- (2012) Woolf T. Walker et al. EUROPEAN RESPIRATORY JOURNAL
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
- (2012) Dinu Antony et al. HUMAN MUTATION
- Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis
- (2012) José Pedro Vieira et al. JOURNAL OF CHILD NEUROLOGY
- Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial
- (2012) Conroy Wong et al. LANCET
- The Role of Macrolides in Childhood Non-Cystic Fibrosis-Related Bronchiectasis
- (2012) R. Masekela et al. MEDIATORS OF INFLAMMATION
- CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
- (2012) Jennifer R Panizzi et al. NATURE GENETICS
- Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
- (2012) Hannah M Mitchison et al. NATURE GENETICS
- Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
- (2012) Jean-François Papon et al. Orphanet Journal of Rare Diseases
- A Periciliary Brush Promotes the Lung Health by Separating the Mucus Layer from Airway Epithelia
- (2012) B. Button et al. SCIENCE
- Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
- (2011) Masha Mazor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images
- (2011) Mary A. K. Olm et al. JOURNAL OF APPLIED PHYSIOLOGY
- Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- (2011) A Shoemark et al. JOURNAL OF CLINICAL PATHOLOGY
- 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
- Ciliopathies
- (2011) Friedhelm Hildebrandt et al. NEW ENGLAND JOURNAL OF MEDICINE
- 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
- Outcomes of Pseudomonas eradication therapy in patients with non-cystic fibrosis bronchiectasis
- (2011) Laura White 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
- Ventilation inhomogeneity in children with primary ciliary dyskinesia
- (2011) Kent Green et al. THORAX
- Lung Function in Patients with Primary Ciliary Dyskinesia
- (2010) June K. Marthin et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- A Randomized Controlled Trial of Nebulized Gentamicin in Non–Cystic Fibrosis Bronchiectasis
- (2010) Maeve P. Murray 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
- Cooling of Cilia Allows Functional Analysis of the Beat Pattern for Diagnostic Testing
- (2010) Claire M. Smith et al. CHEST
- Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
- (2010) C. E. Kuehni et al. EUROPEAN RESPIRATORY JOURNAL
- Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy
- (2010) Matthew Swisher et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
- (2010) Anita Becker-Heck et al. NATURE GENETICS
- 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
- Diagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia
- (2009) Wendy A. Stannard et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- High prevalence of primary ciliary dyskinesia in a British Asian population
- (2009) C O'Callaghan et al. ARCHIVES OF DISEASE IN CHILDHOOD
- The PCP Pathway Instructs the Planar Orientation of Ciliated Cells in the Xenopus Larval Skin
- (2009) Brian Mitchell et al. CURRENT BIOLOGY
- Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children
- (2009) A. Barbato et al. EUROPEAN RESPIRATORY JOURNAL
- A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
- (2009) J. F. Papon et al. EUROPEAN RESPIRATORY JOURNAL
- 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
- Structural and Functional Lung Disease in Primary Ciliary Dyskinesia
- (2008) Francesca Santamaria et al. CHEST
- Autosomal Dominant Polycystic Kidney Disease Is Associated With an Increased Prevalence of Radiographic Bronchiectasis
- (2008) James A. Driscoll et al. CHEST
- Early lung disease in young children with primary ciliary dyskinesia
- (2008) David E. Brown et al. PEDIATRIC PULMONOLOGY
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