Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.
Yuan J et al.
Thrombosis Research, 2024
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.
Yaoita N et al.
Journal of the American Heart Association, 2020
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
[Gene Analysis of A Chinese Family with Hereditary Hemorrhagic Telangiectasia and its Curative Effect of Thalidomide].
Yu Q et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2017
A variant in the endoglin gene is associated with the development of sporadic intracranial aneurysms.
Lin Y et al.
Current Neurovascular Research, 2014
A polymorphic variant of the endoglin gene is associated with increased risk for intracranial aneurysms in a Korean population.
Joo SP et al.
Surgical Neurology, 2008
Identification of a polymorphism of UCP3 associated with recurrent in-stent restenosis of coronary arteries.
Oguri M et al.
International Journal of Molecular Medicine, 2007
Identifying common genetic variants by high-resolution melting.
Vandersteen JG et al.
Clinical Chemistry, 2007
Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.
Savas S et al.
Physiological Genomics, 2007
Prediction of genetic risk for metabolic syndrome.
Yamada Y et al.
Atherosclerosis, 2007
ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.
Howe JR et al.
Clinical Genetics, 2007
Genetic factors for obesity.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis.
Yamaguchi S et al.
International Journal of Molecular Medicine, 2006
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Assessment of genetic factors for type 2 diabetes mellitus.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
Savas S et al.
Human Genomics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
Abdalla SA et al.
Human Mutation, 2005
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Identification of a polymorphism (D366H) in the endoglin gene in Chinese.
Lin WD et al.
Human Mutation, 2000