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- Journal Article
- A1
- open access
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
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Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
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- Journal Article
- A1
- open access
Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data : a report from the Marfan Treatment Trialists' Collaboration
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Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling
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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
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Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year
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Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
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Cardiovascular manifestations in men and women carrying a FBN1 mutation
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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations