Associated Papers
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx
Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.
Rimbert A et al.
Frontiers in Genetics, 2021
Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome.
Benedek P et al.
Journal of Internal Medicine, 2018
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
Tichý L et al.
Physiological Research, 2017
Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
Khamis A et al.
European Journal of Human Genetics : Ejhg, 2015
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
De Castro-Orós I et al.
Human Mutation, 2011
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
Leigh SE et al.
Annals of Human Genetics, 2008
A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
Smith AJ et al.
European Journal of Human Genetics : Ejhg, 2007
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