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Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
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Unraveling Marfan hearts : ultrastructural evidence for myocardial remodeling and cardiomyopathy
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- Journal Article
- A1
- open access
Mitral annular disjunction in heritable thoracic aortic disease : insights from the Montalcino Aortic Consortium
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- Journal Article
- A1
- open access
Unraveling the role of TGFβ signaling in thoracic aortic aneurysm and dissection using Fbn1 mutant mouse models
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- Journal Article
- A1
- open access
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
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- Journal Article
- A1
- open access
Spontaneous right ventricular pseudoaneurysms and increased arrhythmogenicity in a mouse model of Marfan syndrome
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- Journal Article
- A1
- open access
MEK1/2 inhibition in murine heart and aorta after oral administration of refametinib supplemented drinking water
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- Journal Article
- A1
- open access
Ambulatory electrocardiographic monitoring and ectopic beat detection in conscious mice
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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
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Intercalated discs : specialized cytoskeletal anchors in cardiac muscle