Concepedia

Recurrent and founder mutations in the Netherlands

Jan J.J. Aalberts, Agnes G. Schuurman, Gerard Pals, B Hamel, G. Bosman, Yvonne Hilhorst‐Hofstee, Daniela Q.C.M. Barge‐Schaapveld, Barbara J.M. Mulder, Maarten P. van den Berg, J. Peter van Tintelen

Netherlands Heart Journal · 2010 · 13 citations · 19 references

DOI

Concepts

References

19

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

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Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Jennifer Habashi, Daniel P. Judge, Tammy M. Holm et al. · Science · 2006 · 1.8K citations · Full text

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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

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Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome

Enid Neptune, Pamela A. Frischmeyer, Dan E. Arking et al. · Nature Genetics · 2003 · 1.4K citations

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Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 616 citations · Full text

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