Noelia García‐Fernández

ORCID: 0000-0003-0938-7814
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About
Contact & Profiles
Research Areas
  • Cancer Genomics and Diagnostics
  • Renal Transplantation Outcomes and Treatments
  • Organ Transplantation Techniques and Outcomes
  • Cardiac electrophysiology and arrhythmias
  • RNA and protein synthesis mechanisms
  • Molecular Biology Techniques and Applications
  • Cancer-related Molecular Pathways
  • Ion channel regulation and function
  • Transplantation: Methods and Outcomes
  • Cardiomyopathy and Myosin Studies
  • Liver Disease and Transplantation
  • Liver Disease Diagnosis and Treatment

Instituto de Biomedicina de Sevilla
2016-2022

Universidad de Sevilla
2016-2022

Junta de Andalucía
2019-2022

Hospital Universitario Virgen del Rocío
2020-2021

(1) Background: Graft-cell-free DNA (cfDNA) in the circulation of liver transplant recipients has been proposed as a noninvasive biomarker organ rejection. The aim this study was to detect donor-specific cfDNA (ds-cfDNA) recipient’s serum after either damage or rejection using qPCR-based method. (2) Methods: We qPCR method based on amplification 10 specific insertion–deletion (InDel) polymorphisms circulating diluted recipient cfDNA. ds-cfDNA from 67 patients evaluated during first month...

10.3390/jcm12010036 article EN Journal of Clinical Medicine 2022-12-21

SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of assessed by patch-clamp electrophysiology particularly beneficial for correct pathogenic classification related to disease penetrance severity. Here, we identify a novel loss function variant, p.1449Y>H, which presented high complete left bundle branch block, totally masking the typical findings on electrocardiogram. We highlight...

10.1111/jce.15215 article EN cc-by-nc-nd Journal of Cardiovascular Electrophysiology 2021-08-19

SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of assessed by patch clamp electrophysiology particularly beneficial for a correct pathogenic classification related to disease penetrance severity. Here, we identify novel loss function variant, p.1449Y>H, which presented high complete left bundle branch block, totally masking the typical findings on electrocardiogram. We...

10.22541/au.161540932.25525802/v1 preprint EN Authorea (Authorea) 2021-03-10
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