Dramatic response of refractory sarcoidosis under ruxolitinib in a patient with associated JAK2-mutated polycythemia Source: Eur Respir J, 52 (6) 1801482; 10.1183/13993003.01482-2018 Year: 2018
Cough and hypereosinophilia due to FIP1L1-PDGFRA fusion gene with tyrosine kinase activity Source: Eur Respir J 2006; 27: 230-232 Year: 2006
Homozygous mutations of ARFGAP1 gene in severe sarcoidosis Source: Virtual Congress 2020 – Genetics and biomarkers for diagnosis and prognosis of granulomatous lung diseases Year: 2020
Clinical characteristics, hemodynamics and survival in idiopathic and familial pulmonary arterial hypertension with germline BMPR2 mutation Source: Eur Respir J 2007; 30: Suppl. 51, 250s Year: 2007
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension Source: Eur Respir J, 54 (2) 1801965; 10.1183/13993003.01965-2018 Year: 2019
Intersitial lung disease in chlidren with mutation in the SFTPC and SFPTB gene: A two case report Source: International Congress 2017 – Pulmonary infection and inflammation Year: 2017
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation Source: Eur Respir J 2004; 24: 1072-1073 Year: 2004
Clinical manifestation of hereditary pulmonary arterial hypertension by a ²second hit² mutation in the genes BMPR2 and EIF2AK4 Source: International Congress 2016 – Pulmonary hypertension: the clinic I Year: 2016
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation Source: Eur Respir J, 55 (5) 1902340; 10.1183/13993003.02340-2019 Year: 2020
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood Source: ERJ Open Res, 5 (3) 00066-2019; 10.1183/23120541.00066-2019 Year: 2019
Endoglin germline mutation, hereditary hemorrhagic telangiectasia and fenfluramine-associated pulmonary arterial hypertension Source: Eur Respir J 2003; 22: Suppl. 45, 463s Year: 2003
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Source: Eur Respir J 2015; 46: 474-485 Year: 2015
Clinical presentation, hemodynamical characteristics and survival of patients with pulmonary arterial hypertension carrying or not a BMPR2 mutation Source: Eur Respir J 2005; 26: Suppl. 49, 352s Year: 2005
Peripheral blood eosinophilia and clinical phenotype in Bronchiectasis Source: International Congress 2018 – Improving the quality of life of patients with bronchiectasis Year: 2018
Late Breaking Abstract - Type 2 biomarker expression (FeNO and blood eosinophils) is higher in severe adult-onset than in severe early-onset asthma Source: Virtual Congress 2021 – Pearls in immunology, outcome studies and clinical trials in asthma, alpha-1 antitrypsin deficiency and COPD Year: 2021
Prevalence of persistent blood eosinophilia: relation to outcomes in patients with COPD Source: Eur Respir J, 50 (5) 1701162; 10.1183/13993003.01162-2017 Year: 2017
Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 270-271 Year: 2014
Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 269-270 Year: 2014
Serum Interleukin (IL)-6 levels in patients with severe asthma disease is associated with blood eosinophilia Source: Virtual Congress 2020 – Clinical characteristics and diagnostic tools for phenotyping asthma and COPD Year: 2020