Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
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
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.
Lin W et al.
Nature Communications, 2018
Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.
Abou Hassan OK et al.
Bmc Medical Genetics, 2018
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.
Pousada G et al.
Scientific Reports, 2017
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
Pousada G et al.
Plos One, 2014
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
Lo SM et al.
Journal of Inherited Metabolic Disease, 2011
A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects.
Möller T et al.
Scandinavian Cardiovascular Journal : Scj, 2010
[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].
Portillo K et al.
Archivos De Bronconeumologia, 2010
Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease.
Ulrich S et al.
Respiration; International Review of Thoracic Diseases, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.
Rosenzweig EB et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2008
Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?
Stewart DR et al.
Chest, 2007
Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.
Savas S et al.
Physiological Genomics, 2007
Eisenmenger syndrome and atrial septal defect: nature or nurture?
Therrien J et al.
The Canadian Journal of Cardiology, 2006
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G et al.
Human Mutation, 2006
Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.
Elliott CG et al.
Circulation, 2006
Evolutionary conservation and mutational spectrum of BMPR2 gene.
Wong WK et al.
Gene, 2006
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006