Source: International Congress 2016 – Pulmonary hypertension: the clinic I
Disease area: Pulmonary vascular diseases



Rating:

Share or cite this content

Citations should be made in the following way:
Christina Eichstaedt (Heidelberg, Germany), Christina Eichstaedt, Jie Song, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Katrin Hinderhofer, Ekkehard Grünig. Clinical manifestation of hereditary pulmonary arterial hypertension by a ²second hit² mutation in the genes BMPR2 and EIF2AK4. Eur Respir J 2016; 48: Suppl. 60, 1885

Member's Comments

No comment yet.

Related content which might interest you: Pulmonary arterial hypertension associated with several mutations Source: International Congress 2016 – Pulmonary hypertension and pulmonary embolism: from the bench to the bedside Year: 2016 Functional analysis of the 5´UTR region of BMPR2 gene in pulmonary arterial hypertension Source: International Congress 2015 – Pulmonary hypertension: rare and hereditary causes of PAH Year: 2015 Functional characterization of BMPR2 gene in pulmonary arterial hypertension Source: International Congress 2015 – Pulmonary hypertension: rare and hereditary causes of PAH Year: 2015 Analysis of the subcellular localization in BMPR2 gene in pulmonary arterial hypertension Source: International Congress 2016 – The nature of pulmonary hypertension Year: 2016 Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients Source: Eur Respir J 2012; 39: 597-603 Year: 2012 Analysis of BMPR2 gene expression in B-lymphocytes of pulmonary arterial hypertension patients Source: International Congress 2016 – Pulmonary hypertension and pulmonary embolism: from the bench to the bedside Year: 2016 Molecular characterization of the ACVRL1 and ENG genes in patients with pulmonary arterial hypertension Source: International Congress 2015 – Promising novel findings in translational pulmonary research Year: 2015 Clinical phenotypes and outcomes of pulmonary veno-occlusive disease in carriers of bi-allelic EIF2AK4 mutations Source: International Congress 2016 – The nature of pulmonary hypertension Year: 2016 Mutational and epigenetic analysis of the promoter region of BMPR2 gene in patients with pulmonary arterial hypertension Source: International Congress 2014 – Pulmonary hypertension: pathobiology 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 Screening of pulmonary arterial hypertension in BMPR2 mutation carriers Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension Year: 2020 Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation Source: Eur Respir J 2012; 39: 1534-1535 Year: 2012 Characteristics and outcomes of heritable pulmonary veno-occlusive disease due to EIF2AK4 mutations Source: International Congress 2015 – Pulmonary hypertension: rare and hereditary causes of PAH Year: 2015 A new molecular genetic diagnostic approach for pulmonary arterial hypertension Source: International Congress 2016 – The nature of pulmonary hypertension 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 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 Familial pulmonary arterial hypertension by KDR heterozygous loss of function Source: Eur Respir J, 55 (4) 1902165; 10.1183/13993003.02165-2019 Year: 2020 Severe pulmonary hypertension after the discovery of the familial primary pulmonary hypertension gene Source: Eur Respir J 2001; 17: 1065-1069 Year: 2001 Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension Year: 2020 Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient Source: Eur Respir Rev 2014; 23: 147-149 Year: 2014