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_
Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.
Tóth EN et al.
The European Respiratory Journal, 2024
38991711 (PubMed )
Supplement: ERJ-00442-2024.Supplement.pdf
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM et al.
Genes, 2020
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
Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle.
van der Bruggen CE et al.
Circulation, 2016
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS et al.
Journal of Medical Genetics, 2013
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