Genetic heterogeneity of autosomal dominant hypercholesterolemia.
about
Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradationReductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry studyInnovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis PathwayFine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.Clinical utility gene card for: hyperlipoproteinemia, TYPE II.Saturation of the human phenomeCascade Screening for Familial Hypercholesterolemia (FH)Association of peripheral arterial and cardiovascular diseases in familial hypercholesterolemia.A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.Genetic determinants of plasma triglyceridesMolecular spectrum of autosomal dominant hypercholesterolemia in France.Premature coronary artery disease and familial hypercholesterolemia: need for early diagnosis and cascade screening in the Indian population.Changes in Lipids and Lipoproteins after Selective LDL Apheresis (7-Year Experience)Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).New Approaches in Detection and Treatment of Familial HypercholesterolemiaPremature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutationsGlobal molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.Inherited metabolic disorders and cerebral infarction.Molecular pathology of familial hypercholesterolemia, related dyslipidemias and therapies beyond the statins.Familial hypercholesterolemia--epidemiology, diagnosis, and screening.Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia.An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptorEhlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.Dissection of the endogenous cellular pathways of PCSK9-induced low density lipoprotein receptor degradation: evidence for an intracellular route.Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.Nucleotide sequence and association analysis of pig apolipoprotein-B and LDL-receptor genes.Next generation sequencing applications for cardiovascular disease.Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.Mutation detection in Croatian patients with familial hypercholesterolemia.Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia.Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis.
P2860
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P2860
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
@en
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
@nl
type
label
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
@en
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
@nl
prefLabel
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
@en
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
@nl
P2860
P50
P1433
P1476
Genetic heterogeneity of autosomal dominant hypercholesterolemia
@en
P2093
M Abifadel
P2860
P356
10.1111/J.1399-0004.2007.00915.X
P577
2007-11-16T00:00:00Z