Concepedia

Lourdes Palacios

LP

Statistics

Publications

12

Citations

570

H-Index

11

Active since

2006

Affiliations

Grifols (Spain)(Current)

University of the Basque Country

Hospital Universitario Miguel Servet

Centre for Biomedical Network Research on Rare Diseases

Instituto de Investigación de Enfermedades Raras

Lourdes Palacios is an author at Grifols (Spain) specializing in medical genetics, genetics, and familial hypercholesterolemia.

Publications per year

2006–2021

12

Publications

12

Molecular characterization of familial hypercholesterolemia in Spain

Lourdes Palacios, Laura Grandoso, Nerea Cuevas et al. · Atherosclerosis · 2011 · 119 citations

, , +14

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 · 98 citations · Full text

, , +17

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Ana Fernández‐Marmiesse, M.C. Carrascosa-Romero, Blanca Alfaro Ponce et al. · Neuromuscular Disorders · 2016 · 51 citations

, , +7

Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

Aitor Etxebarria, Asier Benito‐Vicente, Lourdes Palacios et al. · Human Mutation · 2014 · 49 citations

, , +15

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

Aitor Etxebarria, Lourdes Palacios, Marianne Stef et al. · Human Mutation · 2011 · 47 citations

, , +17

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