Hospital Miguel Servet -ko ikertzaileekin lankidetzan egindako argitalpenak (23)

2024

  1. OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues

    Advanced Science, Vol. 11, Núm. 13

2023

  1. Contribution of APOE Genetic Variants to Dyslipidemia

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 43, Núm. 6, pp. 1066-1077

2022

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

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 42, Núm. 7, pp. E203-E216

  2. Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation

    Atherosclerosis, Vol. 349, pp. 211-218

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

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

    Revista Espanola de Cardiologia, Vol. 74, Núm. 8, pp. 664-673

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  4. MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants

    JACC: Basic to Translational Science, Vol. 6, Núm. 11, pp. 815-827

2020

  1. Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia

    Atherosclerosis, Vol. 292, pp. 143-151

  2. Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia

    Epigenomics, Vol. 12, Núm. 22, pp. 1949-1955

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene

    Atherosclerosis, Vol. 282, pp. 143-147

  3. The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9

    Atherosclerosis, Vol. 289, pp. 162-172

2018

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

    PLoS ONE, Vol. 13, Núm. 10

2016

  1. The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121

2015

  1. Functional characterization and classification of frequent low-density lipoprotein receptor variants

    Human Mutation, Vol. 36, Núm. 1, pp. 129-141

2014

  1. Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility

    Pediatric Research, Vol. 75, Núm. 6, pp. 767-773

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2011

  1. Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo

    Anales de Pediatria, Vol. 74, Núm. 2, pp. 116-121