Genotype-phenotype correlations in patients with primary ciliary dyskinesia with central complex defects related to RSPH1 , RSPH4A or RSPH9 mutations Source: International Congress 2014 – Molecular pathogenesis of pulmonary inflammatory diseases (COPD, asthma and ILD) Year: 2014
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
Preliminary Results of Whole Exome Sequencing in Turkish Primary Ciliary Dyskinesia Patients - Hacettepe University Experience: “Three candidate genes, five novel and two known mutations” Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017
Creating a large multinational dataset of patients with primary ciliary dyskinesia (PCD) Source: International Congress 2014 – Paediatric epidemiology: new insights into primary ciliary dyskinesia, prematurity and bronchiolitis Year: 2014
Altered circulating exosomal RNA profiles detected by next-generation sequencing in patients with severe asthma Source: International Congress 2016 – How the understanding og molecular and genomic crosstalk is helping to diagnose lung disease Year: 2016
Combined analysis of gene expression and clinical data in the severe asthma U-BIOPRED cohorts Source: International Congress 2014 – Novel approaches in transcriptomics and epigenomics in inflammatory lung diseases and lung cancer Year: 2014
The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in Polish population - results from large scale newborn screening Source: International Congress 2014 – Molecular pathogenesis of pulmonary inflammatory diseases (COPD, asthma and ILD) Year: 2014
Re-sequencing of PLAUR in severe asthma patients identifies novel variation Source: International Congress 2014 – Genetics and environmental factors underlying asthma and COPD Year: 2014
Identification and distribution of rare and new mutations of Alpha-1-antitrypsin in Germany Source: International Congress 2014 – Molecular pathogenesis of pulmonary inflammatory diseases (COPD, asthma and ILD) Year: 2014
Defining uncontrolled childhood asthma in the global PiCA consortium Source: International Congress 2016 – Living with asthma around the globe Year: 2016
Children’s genetic screening in hereditary haemorrhagic telangiectasia - Read more: http://www.atsjournals.org/doi/abs/10.1164/ajrccm-conference.2013.187.1_MeetingAbstracts.A3266 Source: International Congress 2015 – Pulmonary hypertension: rare and hereditary causes of PAH Year: 2015
Association between candidate gene polymorphisms and asthma severity in adults. A Bayesian analysis Source: International Congress 2016 – Role of genetics and exposures in COPD and asthma Year: 2016
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia Source: ERJ Open Res, 6 (4) 00213-2020; 10.1183/23120541.00213-2020 Year: 2020
Childhood asthma and hay fever are heritable, but specific high-risk genetic variants are not shared between diseases Source: International Congress 2015 – Understanding paediatric asthma and allergy: genetics and environment Year: 2015
Whole exome sequencing (WES) of a Chinese Han family with familial pulmonary sarcoidosis Source: Virtual Congress 2020 – Genetics and biomarkers for diagnosis and prognosis of granulomatous lung diseases Year: 2020
Screening for alpha1-antitrypsin deficiency at a university hospital Source: International Congress 2015 – Asthma and lung immunology Year: 2015
Microarray analysis of long non-coding RNAs in COPD Source: International Congress 2014 – Molecular pathogenesis of pulmonary inflammatory diseases (COPD, asthma and ILD) Year: 2014
Transcriptome analysis of controlled and problematic severe childhood asthma Source: Annual Congress 2013 –Uncontrolled and severe asthma in children Year: 2013
Growth in patients with primary ciliary dyskinesia (PCD): A multinational study Source: International Congress 2014 – Paediatric epidemiology: new insights into primary ciliary dyskinesia, prematurity and bronchiolitis Year: 2014
Dual-specificity phosphatase 14 gene polymorphism in Vietnamese patients with pulmonary tuberculosis Source: International Congress 2015 – Science and biomarkers in TB Year: 2015