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- 2012
- The new Ghent criteria for Marfan syndrome: what do they change ?
- 2011
- Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year
- 2010
- Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
- Cardiovascular manifestations in men and women carrying a FBN1 mutation
- 2009
- Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
- 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
- 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
- 2008
- Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
- 2007
- Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study