Source: Virtual Congress 2020 – Chronic lung diseases: novel methods, diagnostics and biomarkers



Rating:

Share or cite this content

Citations should be made in the following way:
R. Bhatt (London, United Kingdom), S. Carr (London, United Kingdom), C. Hogg (London, United Kingdom). How insignificant are genetic variants of unknown significance in Primary Ciliary Dyskinesia?. 325

Member's Comments

No comment yet.

Related content which might interest you: Genetic analysis of 17 children with Primary Ciliary Dyskinesia (PCD) Source: Virtual Congress 2021 – What's new in respiratory problems in rare and systemic diseases Year: 2021 Clinical disease spectrum in RSPH9 Primary Ciliary Dyskinesia patients: a case series. Source: International Congress 2017 – Primary ciliary dyskinesia and air pollution Year: 2017 Clinical features and factors affecting late diagnose of Primary Ciliary Dyskinesia in childhood Source: Virtual Congress 2020 – From the bronchoscope to the clinic: paediatric bronchology at a glance Year: 2020 Phenotype–genotype associations in primary ciliary dyskinesia: where do we stand? Source: Eur Respir J, 58 (2) 2100392; 10.1183/13993003.00392-2021 Year: 2021 Primary Ciliary Dyskinesia Source: Respipedia Article Year: 2017 Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar Source: Virtual Congress 2021 – Primary ciliary dyskinesia and tracheostomy Year: 2021 Phenotypic Spectrum in Primary Ciliary Dyskinesia Source: Virtual Congress 2020 – European Reference Network for rare lung diseases (ERN-LUNG): acting for improved cross-border management of rare diseases Year: 2020 Evolution of Primary Ciliary Dyskinesia (PCD) diagnostic testing in Europe Source: International Congress 2017 – Primary ciliary dyskinesia and air pollution Year: 2017 Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms Source: Virtual Congress 2021 – Primary ciliary dyskinesia and tracheostomy Year: 2021 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia Source: Eur Respir J 2014; 44: 1579-1588 Year: 2014 Primary and secondary ciliary dyskinesia: Clinical phenotypes and their correlation with ciliary ultrastructural analysis Source: Annual Congress 2013 –Paediatric bronchology Year: 2013 Late Breaking Abstract - Mutations of BRWD1 may be associated with Primary Ciliary Dyskinesia Source: International Congress 2018 – Role of omics in population studies Year: 2018 A rare genetic mutation in primary ciliary dyskinesia Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017 A Novel Mutation in Primary Ciliary Dyskinesia: c. 2511dupC p.(Thr838Hisfs*15) Source: Virtual Congress 2020 – From the bronchoscope to the clinic: paediatric bronchology at a glance Year: 2020 Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort Source: Eur Respir J, 50 (6) 1701659; 10.1183/13993003.01659-2017 Year: 2017 The prevalence of tracheobronchomalacia in children with Primary Ciliary Dyskinesia Source: Virtual Congress 2020 – Worldwide respiratory disease across the full spectrum Year: 2020 Ten years’ experience of Primary Ciliary Dyskinesia Diagnostic Testing Source: International Congress 2017 – Primary ciliary dyskinesia and air pollution Year: 2017 Primary ciliary dyskinesia: Diagnostic and phenotypic features in an Italian population Source: International Congress 2015 – Highlights in paediatric epidemiology: air pollution, asthma and primary ciliary dyskinesia Year: 2015 Diagnosis of Primary Ciliary Dyskinesia: a multi-center experience Source: Virtual Congress 2021 – Mechanistic pathways in chronic and new lung diseases Year: 2021 Lung clearance index helps to detect abnormal lung function in children with Primary Ciliary Dyskinesia (PCD) Source: International Congress 2019 – Highlights in lung function and chronic cough Year: 2019