Aortic Valve Stenosis
Last Posted: Feb 13, 2020
- Autosomal recessive hypercholesterolemia: update for 2020.
D'Erasmo Laura et al. Current opinion in lipidology 2020 Jan
- Genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura Jirí et al. Vnitrni lekarstvi 2019 65(10) 652-658
- Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy.
Mathew J et al. Clinical genetics 2018 93(2) 310-319
- Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
Maron Martin S et al. The American journal of medicine 2018 131(2) 200.e1-200.e8
- Elevated Lipoprotein(a) and Risk of Ischemic Stroke.
Langsted Anne, et al. Journal of the American College of Cardiology 2019 7 0. (1) 54-66
- Fabry disease in cardiology practice: Literature review and expert point of view.
Hagège Albert et al. Archives of cardiovascular diseases 2019 Apr 112(4) 278-287
- Genetic basis of hypertrophic cardiomyopathy in children.
Rupp Stefan et al. Clinical research in cardiology : official journal of the German Cardiac Society 2019 Mar 108(3) 282-289
- Genetic Variation in LPA, Calcific Aortic Valve Stenosis in Patients Undergoing Cardiac Surgery, and Familial Risk of Aortic Valve Microcalcification.
Perrot Nicolas et al. JAMA cardiology 2019 May
- Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen Pertti et al. ESC heart failure 2019 Feb
- Precision Medicine for Aortic Stenosis: The Future of Cardiology Today.
Chandrashekhar Y S et al. JACC. Cardiovascular imaging 2019 Feb 12(2) 249-251
- Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh Roddy et al. Genome medicine 2019 Jan 11(1) 5
- Targeted next-generation sequencing in Slovak cardiomyopathy patients.
Nagyova E et al. Bratislavske lekarske listy 2019 120(1) 46-51
- Identifying Ventricular Arrhythmias and Their Predictors by Applying Machine Learning Methods to Electronic Health Records in Patients With Hypertrophic Cardiomyopathy (HCM-VAr-Risk Model).
Bhattacharya Moumita et al. The American journal of cardiology 2019 123(10) 1681-1689
- Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
Xia Yu et al. Molecular genetics & genomic medicine 2018 Dec
- Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson Kate L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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