Tag : Genetic Predisposition to Disease*

Cardiology

TGFBR1 Rare Variant Associated With Thoracic Aortic Aneurysm, Double Chamber Left Ventricle, Coronary Anomaly, and Inducible Ventricular Tachycardia.

Newsemia
Related Articles TGFBR1 Rare Variant Associated With Thoracic Aortic Aneurysm, Double Chamber Left Ventricle, Coronary Anomaly, and Inducible Ventricular Tachycardia. Circ Cardiovasc Imaging. 2020 06;13(6):e010084...
AI/ML

Ontology-based prediction of cancer driver genes.

Newsemia
Related Articles Ontology-based prediction of cancer driver genes. Sci Rep. 2019 11 22;9(1):17405 Authors: Althubaiti S, Karwath A, Dallol A, Noor A, Alkhayyat SS, Alwassia...
Cardiology

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.

Newsemia
Related Articles A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. BMC Cardiovasc Disord. 2020...
AI/ML

SZDB2.0: an updated comprehensive resource for schizophrenia research.

Newsemia
Related Articles SZDB2.0: an updated comprehensive resource for schizophrenia research. Hum Genet. 2020 Oct;139(10):1285-1297 Authors: Wu Y, Li X, Liu J, Luo XJ, Yao YG...
Neurology

Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.

Newsemia
Related Articles Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson’s disease. Neurobiol Aging. 2020 04;88:156.e11-156.e14 Authors: Mahungu AC, Anderson...
Cardiology

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.

Newsemia
Related Articles Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background. Nutr Metab Cardiovasc Dis. 2020 06 09;30(6):977-983 Authors: Caletti...
Cardiology

The association between the D166E polymorphism of the lipoprotein associated phospholipase A2 and risk of myocardial infarction.

Newsemia
Related Articles The association between the D166E polymorphism of the lipoprotein associated phospholipase A2 and risk of myocardial infarction. Eur Rev Med Pharmacol Sci. 2019...
AI/ML

Early detection of pancreatic cancer.

Newsemia
Related Articles Early detection of pancreatic cancer. Lancet Gastroenterol Hepatol. 2020 07;5(7):698-710 Authors: Pereira SP, Oldfield L, Ney A, Hart PA, Keane MG, Pandol SJ,...
Cardiology

The role of DNA methylation and histone modifications in blood pressure: a systematic review.

Newsemia
Related Articles The role of DNA methylation and histone modifications in blood pressure: a systematic review. J Hum Hypertens. 2019 10;33(10):703-715 Authors: Gonzalez-Jaramillo V, Portilla-Fernandez...
Cardiology

Editor's presentation.

Newsemia
Related Articles Editor’s presentation. Eur J Prev Cardiol. 2019 01;26(2):115-116 Authors: Piepoli MF PMID: 30789044 [PubMed – indexed for MEDLINE] Source link...
Cardiology

Grange syndrome due to homozygous YY1AP1 missense rare variants.

Newsemia
Related Articles Grange syndrome due to homozygous YY1AP1 missense rare variants. Am J Med Genet A. 2019 12;179(12):2500-2505 Authors: Ciuffetelli Alamo IV, Kwartler CS, Regalado...

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