Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report.
|
28988723 |
2018 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
|
27206935 |
2017 |
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians.
|
27919345 |
2017 |
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
|
26415676 |
2015 |
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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.
|
25414277 |
2015 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
|
24507775 |
2014 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
|
24234650 |
2014 |
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
|
24234650 |
2014 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
|
23936638 |
2013 |
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.
|
24498611 |
2013 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
|
23433573 |
2013 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
|
22095935 |
2012 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
|
22294733 |
2012 |
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
|
22408029 |
2012 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.
|
22855658 |
2012 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
|
21862702 |
2011 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
|
21868016 |
2011 |
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Array-based resequencing for mutations causing familial hypercholesterolemia.
|
21376320 |
2011 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
|
21059979 |
2010 |
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
|
20032471 |
2010 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
|
18325181 |
2008 |
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).
|
18222178 |
2008 |