Publications by the researcher in collaboration with REBECA LORCA GUTIERREZ (22)

2024

  1. Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experience

    European Journal of Preventive Cardiology, Vol. 31, Núm. 6, pp. e38-e41

  2. Survival analysis and gender differences in hypertrophic cardiomyopathy proband patients referred for genetic testing

    International Journal of Cardiology, Vol. 408

2023

  1. Chromosome Y Haplogroup R Was Associated with the Risk of Premature Myocardial Infarction with ST-Elevation: Data from the CholeSTEMI Registry

    Journal of Clinical Medicine, Vol. 12, Núm. 14

  2. Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia

    Journal of Clinical Medicine, Vol. 12, Núm. 3

  3. Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence

    Journal of Clinical Medicine, Vol. 12, Núm. 6

  4. Opportunistic Genetic Screening for Familial Hypercholesterolemia in Heart Transplant Patients

    Journal of Clinical Medicine, Vol. 12, Núm. 3

2022

  1. Association of the Genetic Variation in the Long Non‐Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy

    Life, Vol. 12, Núm. 6

  2. Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy

    Life, Vol. 12, Núm. 9

  3. KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

    Life, Vol. 12, Núm. 4

  4. Natural History of MYH7-Related Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461

2021

  1. Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders

    Clinical Genetics, Vol. 99, Núm. 3, pp. 457-461

  2. The APOB polymorphism rs1801701 A/G (p.R3638Q) is an independent risk factor for early-onset coronary artery disease: Data from a Spanish cohort

    Nutrition, Metabolism and Cardiovascular Diseases, Vol. 31, Núm. 5, pp. 1564-1568

2020

  1. Angiotensin-converting enzymes (ACE, ACE2) gene variants and COVID-19 outcome

    Gene, Vol. 762

  2. Characterization of left ventricular non-compaction cardiomyopathy

    Journal of Clinical Medicine, Vol. 9, Núm. 8, pp. 1-16

  3. Clinical implications and gender differences of kcnq1 p.Gly168arg pathogenic variant in long qt syndrome

    Journal of Clinical Medicine, Vol. 9, Núm. 12, pp. 1-12

  4. Familial hypercholesterolemia in premature acute coronary syndrome. Insights from cholestemi registry

    Journal of Clinical Medicine, Vol. 9, Núm. 11, pp. 1-12

  5. IL17RA in early-onset coronary artery disease: Total leukocyte transcript analysis and promoter polymorphism (rs4819554) association

    Cytokine, Vol. 136

2019

  1. Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant

    Revista Espanola de Cardiologia, Vol. 72, Núm. 2, pp. 138-144

2018

  1. Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy

    Epigenomics, Vol. 10, Núm. 7, pp. 865-873

2017

  1. Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients

    Circulation: Cardiovascular Genetics, Vol. 10, Núm. 2