Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
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Title
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-01-26
DOI
10.1038/s41431-017-0078-y
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Related references
Note: Only part of the references are listed.- Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights
- (2016) Jian Wang et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)CLINICAL PERSPECTIVE
- (2016) Sarah D. de Ferranti et al. CIRCULATION
- Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
- (2016) Barbara Sjouke et al. Journal of Clinical Lipidology
- Familial Hypercholesterolemia: Advances in Recognition and Therapy
- (2016) Jacqueline L. Cartier et al. PROGRESS IN CARDIOVASCULAR DISEASES
- Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD
- (2016) Roaa Hani Fairoozy et al. PLoS One
- Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia – A study supported by Korean Society of Lipidology and Atherosclerosis
- (2015) Manjae Kwon et al. ATHEROSCLEROSIS
- Exome Sequencing in Suspected Monogenic DyslipidemiasCLINICAL PERSPECTIVE
- (2015) Nathan O. Stitziel et al. Circulation-Cardiovascular Genetics
- Exome Sequencing in Suspected Monogenic DyslipidemiasCLINICAL PERSPECTIVE
- (2015) Nathan O. Stitziel et al. Circulation-Cardiovascular Genetics
- Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries
- (2014) M. Futema et al. CLINICAL CHEMISTRY
- Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations
- (2014) Marta Futema et al. JOURNAL OF MEDICAL GENETICS
- 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
- 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
- Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation
- (2012) Marie Marduel et al. HUMAN MUTATION
- Genetic variation inAPOB,PCSK9, andANGPTL3in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels
- (2011) Roeland Huijgen et al. HUMAN MUTATION
- Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
- (2010) Marie Marduel et al. HUMAN MUTATION
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
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