Isabel de Castro-Orós

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

Ana Cenarro, Aitor Etxebarria, Isabel de Castro-Orós et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 96 citations · Full text

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

María Solanas-Barca, Isabel de Castro-Orós, Rocío Mateo‐Gállego et al. · Atherosclerosis · 2012 · 74 citations

Metabolic Syndrome, Mixed Hyperlipidemia, Genetic Disorder +7

Promoter variant −204A > C of the cholesterol 7α-hydroxylase gene: Association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells

Isabel de Castro-Orós, Sandra Pampín, Montserrat Cofán et al. · Clinical Nutrition · 2010 · 55 citations

Transcriptional Regulation, Oxysterol, Genetics +8

Common Genetic Variants Contribute to Primary Hypertriglyceridemia Without Differences Between Familial Combined Hyperlipidemia and Isolated Hypertriglyceridemia

Isabel de Castro-Orós, Ana Cenarro, María Teresa Tejedor et al. · Circulation Cardiovascular Genetics · 2014 · 46 citations · Full text

Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

Isabel de Castro-Orós, Sandra Pampín, Alfonso Bolado‐Carrancio et al. · Human Mutation · 2011 · 37 citations

Engineering, Genetics, Genetic Epidemiology +17