Associated Papers
The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.
Okhrimenko G et al.
Respiratory Research, 2025
40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Cruz-Utrilla A et al.
International Journal of Molecular Sciences, 2022
36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.
Yang H et al.
Respiratory Research, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1
BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.
Ghigna MR et al.
The European Respiratory Journal, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS et al.
Journal of Medical Genetics, 2013
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
Liu D et al.
The European Respiratory Journal, 2012
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Pfarr N et al.
Respiratory Research, 2011
Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension.
Dewachter L et al.
The European Respiratory Journal, 2009
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
Sztrymf B et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.
Harrison RE et al.
Circulation, 2005
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