Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association Source: Eur Respir J, 50 (5) 1700314; 10.1183/13993003.00314-2017 Year: 2017
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia Source: Eur Respir J, 58 (2) 2002359; 10.1183/13993003.02359-2020 Year: 2021
Genetic mutations and ciliary ultrastructure as possible determinants of lung function evolution in primary ciliary dyskinesia: a 40-year observational study Source: Virtual Congress 2021 – Lung function evaluation and assessment of airway diseases Year: 2021
Primary and secondary ciliary dyskinesia: Clinical phenotypes and their correlation with ciliary ultrastructural analysis Source: Annual Congress 2013 –Paediatric bronchology Year: 2013
Primary ciliary dyskinesia: phenotypic features of a cohort of patients in Argentina Source: Annual Congress 2008 - Paediatric respiratory epidemiology I: primary ciliary dyskinesia, sleep-disordered breathing, exercise-induced symptoms and rare diseases Year: 2008
Primary ciliary dyskinesia: the patients grow up Source: Eur Respir J 2016; 48: 297-300 Year: 2016
Is primary ciliary dyskinesia a "biofilm" disease? Source: Annual Congress 2012 - New insights into respiratory infections in children Year: 2012
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia Source: Eur Respir J 2014; 44: 1579-1588 Year: 2014
How insignificant are genetic variants of unknown significance in Primary Ciliary Dyskinesia? Source: Virtual Congress 2020 – Chronic lung diseases: novel methods, diagnostics and biomarkers Year: 2020
Can nasal-NO be used to differentiate between primary and secondary ciliary dyskinesia? Source: Annual Congress 2011 - Role of the biomarkers in airway diseases Year: 2011
Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia Source: Virtual Congress 2020 – Tip the hat to paediatric bronchology Year: 2020
Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet? Source: Eur Respir J 2016; 47: 699-701 Year: 2016
A process of years: coming to terms with primary ciliary dyskinesia Source: Breathe, 16 (2) 200116; 10.1183/20734735.0116-2020 Year: 2020
Primary ciliary dyskinesia: a major player in a bigger game Source: Breathe, 16 (2) 200047; 10.1183/20734735.0047-2020 Year: 2020
Primary ciliary dyskinesia: early diagnosis and impact on lung function Source: Eur Respir J 2006; 28: Suppl. 50, 495s Year: 2006
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
Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD Source: ERJ Open Res, 6 (1) 00237-2019; 10.1183/23120541.00237-2019 Year: 2020
Lung function in primary ciliary dyskinesia: breaking the myth that this is a mild disease Source: Eur Respir J, 52 (2) 1801365; 10.1183/13993003.01365-2018 Year: 2018
Characteristics and outcomes of adults with primary ciliary dyskinesia (PCD): an EMBARC/BEAT-PCD analysis Source: Virtual Congress 2021 – Bronchiectasis Year: 2021