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Lourdes Palacios

Molecular characterization of familial hypercholesterolemia in Spain
2011 · Lourdes Palacios, Laura Grandoso, et al. · Atherosclerosis · 118
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes
2016 · Ana Cenarro, Aitor Etxebarria, et al. · The Journal of Clinical Endocrinology & Metabolism · 105
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
2020 · Unai Galicia-Garcia, Asier Benito-Vicente, et al. · Scientific Reports · 53
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Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants
2014 · Aitor Etxebarria, Asier Benito-Vicente, et al. · Human Mutation · 52
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Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
2016 · Ana Fernández-Marmiesse, M. Carmen Carrascosa-Romero, et al. · Neuromuscular Disorders · 48
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor
2011 · Aitor Etxebarria, Lourdes Palacios, et al. · Human Mutation · 48
Overexpression of SND p102, a rat homologue of p100 coactivator, promotes the secretion of lipoprotein phospholipids in primary hepatocytes
2006 · Lourdes Palacios, Begoña Ochoa, et al. · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 38
Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia
2011 · Isabel De Castro‐Orós, Sandra Pampín, et al. · Human Mutation · 37
Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization
2020 · Gemma Moncunill, Anja Scholzen, et al. · Science Translational Medicine · 35
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
2015 · Sara Brito, Kyle Thompson, et al. · Frontiers in Genetics · 21
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A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe
2013 · Marianne A. Stef, Lourdes Palacios, et al. · Journal of Molecular Diagnostics · 20
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Clinical evaluation of the Procleix SARS-CoV-2 assay, a sensitive, high-throughput test that runs on an automated system
2021 · Silvia Sauleda, Lourdes Palacios, et al. · Diagnostic Microbiology and Infectious Disease · 11
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Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia
2020 · Itziar Lamiquiz-Moneo, Fernando Civeira, et al. · Revista Española de Cardiología (English Edition) · 9
PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes
2019 · Iria Roca, Lorena González-Castro, et al. · Genomics · 9
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Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia
2022 · Asier Benito-Vicente, Kepa B. Uribe, et al. · Arteriosclerosis Thrombosis and Vascular Biology · 6
New contributions to the study of common double mutants in the human LDL receptor gene
2011 · M. Teresa Tejedor, Ana Cenarro, et al. · Die Naturwissenschaften · 6
Rendimiento diagnóstico de la secuenciación de genes de hipercolesterolemia familiar en sujetos con hipercolesterolemia primaria
2020 · Itziar Lamiquiz-Moneo, Fernando Civeira, et al. · Revista Española de Cardiología · 5
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Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
2015 · Sara Brito, Kyle Thompson, et al. · Frontiers in Genetics · 5
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The leucine stretch length of PCSK9 signal peptide and its role in development of autosomal dominant hypercholesterolaemia: Unravelling the activities of P.LEU23DEL and P.LEU22_LEU23DUP variants
2017 · Unai Galicia Garcia, Asier Benito Vicente, et al. · Atherosclerosis · 3
Análisis funcional de mutaciones en el promotor del LDLR y su relación con la hipercolesterolemia familiar
2011 · Isabel de Castro-Orós, Alfonso Bolado-Carrancio, et al. · Clínica e Investigación en Arteriosclerosis · 1
Functional characterization of LDL receptor missense variants located in the first cysteine-rich repeat in ligand binding domain of low density lipoprotein receptor
2017 · Haziq Siddiqi, Asier Benito, et al. · Atherosclerosis
Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102
2015 · Sara Brito, Kyle Thompson, et al. · Newcastle University ePrints (Newcastle Univesity)
Long-term survival in a child with severe encephalpathy, multiple respiratory chain deficiency and GFM1 mutations (vol 6, 102, 2015)
2015 · Sara Brito, Kyle Thompson, et al. · Kölner Universitäts PublikationsServer (Universität zu Köln)
Abstract 13801: The p.Leu167del Mutation in APOE Gene causes Autosomal Dominant Hypercholesterolemia by Down-Regulation of LDL Receptor Expression in Hepatocytes
2014 · Ana Cenarro, César Martín, et al. · Circulation
Infection of primary hepatocytes with adenoviral vectors alters biliary lipid metabolism
2013 · Yuri Rueda, Itsaso Garcia-Arcos, et al. · The Journal of Physiological Sciences
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Works count: 26
Citation count: 630
H-index: 11
I10-index: 12
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