Screening of pulmonary arterial hypertension in BMPR2 mutation carriers Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension Year: 2020
Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension Source: Eur Respir J 2014; 43: 1195-1198 Year: 2014
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
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation Source: Eur Respir J 2012; 39: 1534-1535 Year: 2012
Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient Source: Eur Respir Rev 2014; 23: 147-149 Year: 2014
BMPR2 mutations and iron metabolism in pulmonary arterial hypertension patients Source: Virtual Congress 2021 – Pathogenesis and pathophysiology of pulmonary hypertension Year: 2021
Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension Year: 2020
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
BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension Source: Eur Respir J 2016; 48: 1668-1681 Year: 2016
Familial pulmonary arterial hypertension by KDR heterozygous loss of function Source: Eur Respir J, 55 (4) 1902165; 10.1183/13993003.02165-2019 Year: 2020
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
Molecular analysis of genes BMPR2 and KCNA5 in Spanish patients with pulmonary arterial hypertension Source: Annual Congress 2012 - Pulmonary circulation: clinical diagnosis, treatment, end-points and animal models Year: 2012
Relationship of BMPR2 mutations and vasoreactivity in pulmonary arterial hypertension Source: Research Seminar 2005 - Pulmonary Circulation: Molecular Determinants of Pulmonary Vascular Remodelling Year: 2005
Endoglin germline mutation, hereditary hemorrhagic telangiectasia and fenfluramine-associated pulmonary arterial hypertension Source: Eur Respir J 2003; 22: Suppl. 45, 463s Year: 2003
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
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
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Source: Eur Respir J 2015; 46: 474-485 Year: 2015
BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease Source: Eur Respir J 2004; 24: 371-374 Year: 2004
Telomere-Related Gene mutations in a Greek cohort of suspected monogenic pulmonary fibrosis patients Source: Virtual Congress 2020 – Idiopathic pulmonary fibrosis and interstitial lung disease: progression, genes and more Year: 2020