Lourdes Palacios

Derio, PV, Spain

Last Updated: 09/26/2026

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Found 17 publications

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

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

Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: May 05, 2022

Clinical evaluation of the Procleix SARS-CoV-2 assay, a sensitive, high-throughput test that runs on an automated system.

Clinical evaluation of the Procleix SARS-CoV-2 assay, a sensitive, high-throughput test that runs on an automated system.

Journal: Diagnostic microbiology and infectious disease
Published: April 01, 2021

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

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

Journal: Revista espanola de cardiologia (English ed.)
Published: December 15, 2019

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

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

Journal: Scientific reports
Published: August 27, 2019

Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization.

Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization.

Journal: Science translational medicine
Published: July 29, 2019

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

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

Journal: Genomics
Published: January 31, 2019

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

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

Journal: PloS one
Published: July 12, 2018

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

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

Journal: Scientific reports
Published: May 23, 2018

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

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

Journal: Neuromuscular disorders : NMD
Published: June 06, 2016

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

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

Journal: The Journal of clinical endocrinology and metabolism
Published: March 26, 2016

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

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

Journal: Frontiers in genetics
Published: June 16, 2015

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

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

Journal: Frontiers in genetics
Published: December 18, 2014
Showing 1-12 of 17

Last Updated: 09/26/2026