Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +10

Revised diagnostic criteria for the Marfan syndrome

Anne De Paepe, Richard B. Devereux, Harry C. Dietz et al. · American Journal of Medical Genetics · 1996 · 1.6K citations

Life Sciences, Genetics, Human Genetics +9

Comprehensive molecular screening of the<i>FBN1</i>gene favors locus homogeneity of classical Marfan syndrome

Bart Loeys, Julie De Backer, Petra Van Acker et al. · Human Mutation · 2004 · 227 citations

Life Sciences, Genetics, Molecular Genetics +12

Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms

Kim De Leeneer, Ilse Coene, Bruce Poppe et al. · Clinical Chemistry · 2008 · 78 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

Chia‐Cheng Hung, Yi‐Ning Su, Shu‐Chin Chien et al. · BMC Medical Genetics · 2006 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15