L. Palacios

发表

Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization

E. Pasini, S. Agnandji, J. Aponte, 2020, Science Translational Medicine.

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

César Martín, H. Ostolaza, L. Palacios, 2015, Atherosclerosis.

PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.

M. Couce, Joan Maynou, L. Palacios, 2020, Genomics.

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

M. Couce, L. Palacios, C. Jiménez-Mallebrera, 2017, Neuromuscular Disorders.

Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia

César Martín, K. Uribe, F. Civeira, 2022, Arteriosclerosis, thrombosis, and vascular biology.

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

César Martín, H. Ostolaza, K. Uribe, 2018, PloS one.

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

H. Ostolaza, K. Uribe, L. Palacios, 2018, Scientific Reports.

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

César Martín, H. Ostolaza, R. Mateo-Gallego, 2016, The Journal of clinical endocrinology and metabolism.

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

César Martín, H. Ostolaza, F. Civeira, 2015, Human mutation.

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

César Martín, H. Ostolaza, K. Uribe, 2012, Human mutation.

Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia.

César Martín, R. Mateo-Gallego, F. Civeira, 2020, Revista espanola de cardiologia.

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

César Martín, H. Ostolaza, K. Uribe, 2020, Scientific Reports.

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

H. Ostolaza, K. Uribe, L. Palacios, 2018, Scientific Reports.

Molecular characterization of familial hypercholesterolemia in Spain.

N. Cuevas, L. Palacios, D. Tejedor, 2012, Atherosclerosis.

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

J. Borén, B. Motta, O. Wiklund, 2014, Journal of internal medicine.

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

N. Plana, L. Masana, F. Civeira, 2011, Human mutation.

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

César Martín, H. Ostolaza, K. Uribe, 2020, Scientific Reports.

New contributions to the study of common double mutants in the human LDL receptor gene

F. Civeira, L. Palacios, L. Monteagudo, 2011, Naturwissenschaften.

A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.

L. Palacios, J. Defesche, D. Tejedor, 2013, The Journal of molecular diagnostics : JMD.

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..