Paucity of skeletal manifestations in hispanic families with FBN1 mutations

Revised diagnostic criteria for the Marfan syndrome

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Life Sciences, Genetics, Human Genetics +9

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

Mary J. Roman, Richard B. Devereux, Randi Kramer-Fox et al. · The American Journal of Cardiology · 1989 · 1.1K citations

Medicine, Cardiology, Pediatrics +14

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

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 603 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome

Bart Loeys · Archives of Internal Medicine · 2001 · 240 citations

Life Sciences, Genetics, Molecular Genetics +14

Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes

Iris Schrijver, Wei Liu, Thomas Brenn et al. · The American Journal of Human Genetics · 1999 · 230 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +6