Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
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The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceJ-wave syndromes: Brugada and early repolarization syndromesInherited bradyarrhythmia: A diverse genetic backgroundElectrophysiological Mechanisms of Brugada Syndrome: Insights from Pre-clinical and Clinical StudiesGenetics of Brugada syndromeThe Diagnosis, Risk Stratification, and Treatment of Brugada SyndromeNumerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality.An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing.J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledgeGenetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalitiesNovel Therapeutic Strategies for the Management of Ventricular Arrhythmias Associated with the Brugada SyndromeCardiac Channelopathies and Sudden Death: Recent Clinical and Genetic AdvancesGenomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.Pathogenesis and management of Brugada syndrome.Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome.Ajmaline blocks INa and IKr without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters.Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.KV4.3 Expression Modulates NaV1.5 Sodium Current.J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada SyndromeAn African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillationHigh-throughput genetic characterization of a cohort of Brugada syndrome patients
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Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
description
article
@en
im Mai 2015 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в травні 2015
@uk
ലേഖനം
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name
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@en
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@nl
type
label
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@en
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@nl
prefLabel
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@en
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@nl
P2093
P2860
P50
P356
P1476
Testing the burden of rare var ...... diagnosis for Brugada syndrome
@en
P2093
Christian Dina
Estelle Baron
Floriane Simonet
Frédéric Sacher
Jade Violleau
Jean-Baptiste Gourraud
Laëtitia Duboscq-Bidot
Lise Bellanger
Matilde Karakachoff
Philippe Mabo
P2860
P304
P356
10.1093/HMG/DDV036
P407
P50
P577
2015-05-15T00:00:00Z