Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: A Reference Unit Centre Experience

…, C García-Lago, J Rodríguez-Reguero… - European Journal of …, 2024 - academic.oup.com
Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease, caused
by pathogenic variants mainly in sarcomere genes. 1, 2 Next generation sequencing (NGS) …

The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction

P González, M García-Castro, JR Reguero… - Journal of medical …, 2006 - jmg.bmj.com
Background: A myocyte enhancer factor 2A (MEF2A) mutation that segregated with coronary
artery disease/myocardial infarction (CAD/MI) in a large family has recently been described. …

[HTML][HTML] Association of the genetic variation in the long non-coding RNA FENDRR with the risk of developing hypertrophic cardiomyopathy

…, V Rolle, B Alonso, S Iglesias, J Rodríguez-Reguero… - Life, 2022 - mdpi.com
Background: In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic
variants are not identified. Our aim was to evaluate the possible association of lncRNAs with …

Surveillance after cardiac arrest in patients with Brugada syndrome without an implantable defibrillator: An alarm effect of the previous syncope

…, D Pérez, MG Vasserot, J Rodríguez-Reguero… - International Journal of …, 2016 - Elsevier
Background Debate regarding the prognosis of asymptomatic patients with Brugada syndrome
(BrS) is possibly affected by the selection bias of survivors of sudden cardiac arrest (SCA)…

La lipoproteína (a) es predictora de severidad angiográfica en varones menores de 50 años con inicio clínico de enfermedad coronaria

AB Celorio, JJR Reguero, GI Cubero, SH Nava… - Revista Española de …, 2000 - Elsevier
Objetivo Analizar la relación de las concentraciones séricas de lipoproteína (a) con la edad
de presentación de la cardiopatía isquémica y la severidad angiográfica de la enfermedad …

Rare genetic variants in GATA transcription factors in patients with hypertrophic cardiomyopathy

…, J Rodríguez-Reguero… - Journal of …, 2017 - journals.sagepub.com
Hypertrophic cardiomyopathy (HCM) is a very heterogeneous disease. Although primarily
caused by mutations in genes encoding sarcomeric proteins, other genes might explain that …

Variable expressivity of a founder mutation in the EIF2AK4 gene in hereditary pulmonary veno-occlusive disease and its impact on survival

PN Tejedor, JP Doza, JAT Castaño, ABE Valls… - Revista Española de …, 2018 - Elsevier
Introduction and objectives Hereditary pulmonary veno-occlusive disease (PVOD) has been
associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder …

New polymorphisms in human MEF2C gene as potential modifier of hypertrophic cardiomyopathy

…, JL Fernandez-Martin, J Rodriguez-Reguero… - Molecular biology …, 2012 - Springer
Hypertrophic cardiomyopathy is caused by mutations in genes encoding sarcomeric proteins.
Its variable phenotype suggests the existence of modifier genes. Myocyte enhancer factor (…

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

R Lorca, A Junco-Vicente, A Pérez-Pérez, I Pascual… - Life, 2022 - mdpi.com
Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated
with susceptibility to ventricular arrhythmias due to malfunction of ion channels in …

[HTML][HTML] Characterization of left ventricular non-compaction cardiomyopathy

…, P Avanzas, JJ Rodríguez Reguero… - Journal of Clinical …, 2020 - mdpi.com
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent
years, being one of the most controversial cardiomyopathies. There are several open debates, …