Diagnosis of Primary Ciliary Dyskinesia

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

(2021) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration

(2021) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

(2021) Isabella Aprea et al.   MOLECULAR HUMAN REPRODUCTION

Lung clearance index predicts pulmonary exacerbations in individuals with primary ciliary dyskinesia: a multicentre cohort study

(2021) Florian Singer et al.   THORAX

Phenotype–genotype associations in primary ciliary dyskinesia: where do we stand?

(2021) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria)

(2020) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies

(2020) Zhen Liu et al.   Science Translational Medicine

Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial

(2020) Helene E Kobbernagel et al.   Lancet Respiratory Medicine

PCD Detect: Enhancing ciliary features though image averaging and classification

(2020) Amelia Shoemark et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

(2019) Bruna Rubbo et al.   CHEST

ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

(2019) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

(2019) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

(2019) Anu Sironen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

(2019) Sylvain Blanchon et al.   JOURNAL OF MEDICAL GENETICS

Primary ciliary dyskinesia in the genomics age

(2019) Jane S Lucas et al.   Lancet Respiratory Medicine

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

(2018) Adam J. Shapiro et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

(2018) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection

(2018) June K. Marthin et al.   EUROPEAN RESPIRATORY JOURNAL

Hearing loss in children with primary ciliary dyskinesia

(2018) Kathryn L. Kreicher et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study

(2018) Florian S. Halbeisen et al.   EUROPEAN RESPIRATORY JOURNAL

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

(2018) Sunayna Best et al.   THORAX

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

(2018) Martina Contarini et al.   MULTIDISCIPLINARY RESPIRATORY MEDICINE

Bronchiectasis in PCD looks different to CF on CT scan

(2018) Philip Robinson et al.   MULTIDISCIPLINARY RESPIRATORY MEDICINE

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The European Multicentre Bronchiectasis Audit and Research Collaboration (EMBARC) ERS Clinical Research Collaboration

(2018) Stefano Aliberti et al.   EUROPEAN RESPIRATORY JOURNAL

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

(2017) Gert Jan Vanaken et al.   EUROPEAN RESPIRATORY JOURNAL

Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia

(2017) Kazuhiko Takeuchi et al.   OTOLOGY & NEUROTOLOGY

High prevalence ofCCDC103p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

(2017) Amelia Shoemark et al.   THORAX

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

(2017) Chiara Olcese et al.   Nature Communications

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

(2016) Gerard W. Dougherty et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

(2016) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

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

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

(2016) Laura Behan 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

Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia

(2016) Justine Frija-Masson et al.   THORAX

Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia

(2016) Mikkel Christian Alanin et al.   International Forum of Allergy & Rhinology

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

A quality-of-life measure for adults with primary ciliary dyskinesia: QOL–PCD

(2015) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

An international registry for primary ciliary dyskinesia

(2015) Claudius Werner et al.   EUROPEAN RESPIRATORY JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Ciliary function and motor protein composition of human fallopian tubes

(2015) Johanna Raidt et al.   HUMAN REPRODUCTION

Further evidence for an association between LCI and FEV1in patients with PCD: Figure 1

(2015) Sylvia Nyilas 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

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

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

Primary Ciliary Dyskinesia and Neonatal Respiratory Distress

(2014) Tara Mullowney et al.   PEDIATRICS

Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias

(2014) Amanda Harris et al.   BMC Pulmonary Medicine

Aerobic Fitness in Children and Young Adults with Primary Ciliary Dyskinesia

(2013) Astrid Madsen et al.   PLoS One

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(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

Nitric oxide in primary ciliary dyskinesia

(2012) Woolf T. Walker et al.   EUROPEAN RESPIRATORY JOURNAL

Otologic Features in Children With Primary Ciliary Dyskinesia

(2010) Virginie Prulière-Escabasse et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

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

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

High prevalence of primary ciliary dyskinesia in a British Asian population

(2009) C O'Callaghan et al.   ARCHIVES OF DISEASE IN CHILDHOOD