Clinical genetics of inherited arrhythmogenic disease in the pediatric population
E Martínez-Barrios, S Cesar, J Cruzalegui… - Biomedicines, 2022 - mdpi.com
Sudden death is a rare event in the pediatric population but with a social shock due to its
presentation as the first symptom in previously healthy children. Comprehensive autopsy in …
presentation as the first symptom in previously healthy children. Comprehensive autopsy in …
Genetics of inherited arrhythmias in pediatrics
O Campuzano, G Sarquella-Brugada… - Current Opinion in …, 2015 - journals.lww.com
Genetics of inherited arrhythmias in pediatrics : Current Opinion in Pediatrics Genetics of
inherited arrhythmias in pediatrics : Current Opinion in Pediatrics Log in or Register Subscribe to …
inherited arrhythmias in pediatrics : Current Opinion in Pediatrics Log in or Register Subscribe to …
Genetic variants as sudden-death risk markers in inherited arrhythmogenic syndromes: personalized genetic interpretation
O Campuzano, G Sarquella-Brugada, E Arbelo… - Journal of Clinical …, 2020 - mdpi.com
Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac
episodes in young people. It is possible that the first sign of the condition may be sudden …
episodes in young people. It is possible that the first sign of the condition may be sudden …
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases
Genetic causes of sudden cardiac death in children: inherite... : Current Opinion in Pediatrics
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases : Current …
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases : Current …
The evolution of gene‐guided management of inherited arrhythmia syndromes: Peering beyond monogenic paradigms towards comprehensive genomic risk scores
MK Rowe, JD Roberts - Journal of Cardiovascular …, 2020 - Wiley Online Library
Inherited arrhythmia syndromes have traditionally been viewed as monogenic forms of
disease whose pathophysiology is driven by a single highly penetrant rare genetic variant …
disease whose pathophysiology is driven by a single highly penetrant rare genetic variant …
[HTML][HTML] Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death
In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis
performed to attempt to unravel the cause of decease in cases remaining unexplained after …
performed to attempt to unravel the cause of decease in cases remaining unexplained after …
Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation
AM Glazer - Current opinion in genetics & development, 2022 - Elsevier
Congenital arrhythmia syndromes are rare genetic disorders that can cause a high risk of
sudden cardiac death. Expert panels have affirmed 15 genes that are linked to congenital …
sudden cardiac death. Expert panels have affirmed 15 genes that are linked to congenital …
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes
O Campuzano, G Sarquella-Brugada… - …, 2020 - thelancet.com
Background Accurate interpretation of rare genetic variants is a challenge for clinical
translation. Updates in recommendations for rare variant classification require the reanalysis …
translation. Updates in recommendations for rare variant classification require the reanalysis …
Functional significance of channelopathy gene variants in unexplained death
I Gando, HQ Yang, WA Coetzee - Forensic Science, Medicine and …, 2019 - Springer
Determining the cause of unexplained death in all age groups, including infants, is a priority
in forensic medicine. The triple risk model proposed for sudden infant death syndrome …
in forensic medicine. The triple risk model proposed for sudden infant death syndrome …
Molecular autopsy in a cohort of infants died suddenly at rest
O Campuzano, P Beltramo, A Fernandez… - Forensic Science …, 2018 - Elsevier
Sudden infant death syndrome is the leading cause of death during the first year of life. A
large part of cases remains without a conclusive cause of death after complete autopsy. In …
large part of cases remains without a conclusive cause of death after complete autopsy. In …