Found: 13
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Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.124
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- Publication type:
- Article
FLNC missense variants in familial noncompaction cardiomyopathy.
- Published in:
- Cardiogenetics, 2019, v. 9, n. 1, p. 9, doi. 10.4081/cardiogenetics.2019.8181
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- Publication type:
- Article
Optimal echocardiographic assessment of myocardial dysfunction for arrhythmic risk stratification in phospholamban mutation carriers.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 11, p. 1492, doi. 10.1093/ehjci/jeab178
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- Publication type:
- Article
Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2019, v. 20, n. 1, p. 92, doi. 10.1093/ehjci/jey047
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- Publication type:
- Article
Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2023, v. 482, n. 4, p. 653, doi. 10.1007/s00428-023-03523-8
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- Publication type:
- Article
A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers.
- Published in:
- European Heart Journal, 2023, v. 44, n. 40, p. 4284, doi. 10.1093/eurheartj/ehad292
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- Publication type:
- Article
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
- Published in:
- 2018
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- Publication type:
- letter
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66656-9
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- Publication type:
- Article
High Resolution Systematic Digital Histological Quantification of Cardiac Fibrosis and Adipose Tissue in Phospholamban p.Arg14del Mutation Associated Cardiomyopathy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094820
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- Publication type:
- Article
Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
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- Publication type:
- Article
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.
- Published in:
- Cardiovascular Research, 2017, v. 113, n. 12, p. 1521, doi. 10.1093/cvr/cvx150
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- Publication type:
- Article
P62‐positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
- Published in:
- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 6, p. 3160, doi. 10.1111/jcmm.16388
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- Publication type:
- Article