Associated Papers
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB et al.
Atherosclerosis, 2011
Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia.
Souverein OW et al.
European Heart Journal, 2007
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
Blesa S et al.
Clinical Chemistry, 2006
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
Real JT et al.
European Journal of Human Genetics : Ejhg, 2003
Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia.
Descamps OS et al.
European Journal of Clinical Investigation, 2003
The molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW et al.
Human Genetics, 2001
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001
Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.
Descamps OS et al.
European Journal of Clinical Investigation, 2001
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
Chaves FJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia.
Real JT et al.
European Heart Journal, 2001
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
Bertolini S et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2000
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
Deiana L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2000
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