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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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The new Ghent criteria for Marfan syndrome: what do they change ?
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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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Cardiovascular manifestations in men and women carrying a FBN1 mutation
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Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
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Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
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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
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands