Marfan syndrome: ocular findings and novel mutations—in pursuit of genotype–phenotype associations

The revised Ghent nosology for the Marfan syndrome: Table 1

Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text

Medicine, Clinical Sciences, Pediatrics +11

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

Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

Harry C. Dietz, Iain McIntosh, Lynn Y. Sakai et al. · Genomics · 1993 · 304 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The eye in the Marfan syndrome.

Irene H. Maumenee · PubMed · 1981 · 251 citations

Medicine, Anatomy, Ophthalmology +14

Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

Iris Schrijver, Wanguo Liu, Raanan S Odom et al. · The American Journal of Human Genetics · 2002 · 161 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13