- Home
- Publications
- Publication Search
- Publication Details
Title
Evaluation of the role of STAP1 in Familial Hypercholesterolemia
Authors
Keywords
-
Journal
Scientific Reports
Volume 9, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-08-19
DOI
10.1038/s41598-019-48402-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia
- (2018) Marta Futema et al. ATHEROSCLEROSIS
- A rare STAP1 mutation incompletely associated with familial hypercholesterolemia
- (2018) Francisco Blanco-Vaca et al. CLINICA CHIMICA ACTA
- Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- A case of autosomal recessive hypercholesterolemia responsive to proprotein convertase subtilisin/kexin 9 inhibition
- (2017) Eoin Francis Fahy et al. Journal of Clinical Lipidology
- Familial hypercholesterolaemia
- (2017) Joep C. Defesche et al. Nature Reviews Disease Primers
- Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia
- (2016) Thomas Grenkowitz et al. ATHEROSCLEROSIS
- Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217
- (2016) Marianne Benn et al. EUROPEAN HEART JOURNAL
- Editorial
- (2016) Denis Gerstorf et al. GERONTOLOGY
- Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease
- (2016) Barbara Sjouke et al. Journal of Clinical Lipidology
- The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results
- (2015) Cristian Pattaro et al. Journal of Translational Medicine
- Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
- (2014) Leslie A. Lange et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
- (2014) Penny J Norsworthy et al. BMC Medical Genetics
- Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia
- (2014) Sigrid W. Fouchier et al. CIRCULATION RESEARCH
- Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
- (2014) Ron Do et al. NATURE
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- DNA methylation signatures link prenatal famine exposure to growth and metabolism
- (2014) Elmar W. Tobi et al. Nature Communications
- Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
- (2013) Nathan O. Stitziel et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- APOE p.Leu167del mutation in familial hypercholesterolemia
- (2013) Zuhier Awan et al. ATHEROSCLEROSIS
- Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society
- (2013) B. G. Nordestgaard et al. EUROPEAN HEART JOURNAL
- Cohort Profile: The Berlin Aging Study II (BASE-II)†
- (2013) Lars Bertram et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
- (2013) Philippa J Talmud et al. LANCET
- Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia
- (2012) María Solanas-Barca et al. ATHEROSCLEROSIS
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now