Found: 33
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Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37110-x
- By:
- Publication type:
- Article
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Cardiac conduction defects associate with mutations in SCN5A.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 20, doi. 10.1038/12618
- By:
- Publication type:
- Article
TRPM4 non-selective cation channel variants in long QT syndrome.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0397-4
- By:
- Publication type:
- Article
Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054131
- By:
- Publication type:
- Article
Variable Na<sub>v</sub>1.5 Protein Expression from the Wild-Type Allele Correlates with the Penetrance of Cardiac Conduction Disease in the Scn5a<sup>+/--</sup> Mouse Model.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009298
- By:
- Publication type:
- Article
Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/K<sub>ATP</sub> Channel.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2009, v. 20, n. 1, p. 93, doi. 10.1111/j.1540-8167.2008.01326.x
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- Publication type:
- Article
Progressive Cardiac Conduction Defect is the Prevailing Phenotype in Carriers of a Brugada Syndrome SCN5A Mutation.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2006, v. 17, n. 3, p. 270, doi. 10.1111/j.1540-8167.2006.00349.x
- By:
- Publication type:
- Article
Monomorphic Ventricular Tachycardia Due to Brugada Syndrome Successfully Treated by Hydroquinidine Therapy in a 3-Year-Old Child.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2006, v. 17, n. 1, p. 97, doi. 10.1111/j.1540-8167.2005.00329.x
- By:
- Publication type:
- Article
Novel Brugada SCN5A Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2003, v. 14, n. 2, p. 200, doi. 10.1046/j.1540-8167.2003.02382.x
- By:
- Publication type:
- Article
Fine-scale human genetic structure in Western France.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 831, doi. 10.1038/ejhg.2014.175
- By:
- Publication type:
- Article
Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study.
- Published in:
- European Heart Journal, 2012, v. 33, n. 5, p. 622, doi. 10.1093/eurheartj/ehr347
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- Publication type:
- Article
Developmental basis for filamin-A-associated myxomatous mitral valve disease.
- Published in:
- Cardiovascular Research, 2012, v. 96, n. 1, p. 109, doi. 10.1093/cvr/cvs238
- By:
- Publication type:
- Article
Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor β3 gene regulatory regions: a breakthrough?
- Published in:
- 2005
- By:
- Publication type:
- Editorial
Non-invasive testing of acquired long QT syndrome.
- Published in:
- Cardiovascular Research, 2001, v. 50, n. 2, p. 386, doi. 10.1016/S0008-6363(01)00263-2
- By:
- Publication type:
- Article
A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.
- Published in:
- Clinical & Translational Medicine, 2021, v. 11, n. 11, p. 1, doi. 10.1002/ctm2.609
- By:
- Publication type:
- Article
A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype.
- Published in:
- Clinical & Translational Medicine, 2021, v. 11, n. 6, p. 1, doi. 10.1002/ctm2.413
- By:
- Publication type:
- Article
Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model.
- Published in:
- Cardiovascular Research, 2023, v. 119, n. 3, p. 759, doi. 10.1093/cvr/cvac136
- By:
- Publication type:
- Article
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1370905
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- Publication type:
- Article
DZIP1 regulates mammalian cardiac valve development through a Cby1‐β‐catenin mechanism.
- Published in:
- Developmental Dynamics, 2021, v. 250, n. 10, p. 1432, doi. 10.1002/dvdy.342
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- Publication type:
- Article
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
- Published in:
- Nature, 2003, v. 421, n. 6923, p. 634, doi. 10.1038/nature01335
- By:
- Publication type:
- Article
Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.
- Published in:
- 2016
- By:
- Publication type:
- journal article
On the computation of the electrical potential inside a horizontally-layered half-space.
- Published in:
- Geophysical Prospecting, 2012, v. 60, n. 1, p. 153, doi. 10.1111/j.1365-2478.2011.00948.x
- By:
- Publication type:
- Article
Ridge segmentation and the magnetic structure of the Southwest Indian Ridge (at 50°30′E, 55°30′E and 66°20′E): Implications for magmatic processes at ultraslow-spreading centers.
- Published in:
- Geochemistry, Geophysics, Geosystems: G3, 2004, v. 5, n. 5, p. n/a, doi. 10.1029/2003GC000581
- By:
- Publication type:
- Article
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1333, doi. 10.1002/humu.24436
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- Publication type:
- Article
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772
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- Publication type:
- Article
SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups.
- Published in:
- European Heart Journal, 2018, v. 39, n. 31, p. 2879, doi. 10.1093/eurheartj/ehy412
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- Publication type:
- Article
Moment estimators of relatedness from low-depth whole-genome sequencing data.
- Published in:
- BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-04795-8
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- Publication type:
- Article
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
- Published in:
- Basic Research in Cardiology, 2014, v. 109, n. 6, p. 1, doi. 10.1007/s00395-014-0446-5
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- Publication type:
- Article
DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0179364
- By:
- Publication type:
- Article