Concepedia

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune, Daniel P. Judge, Megan Podowski, Tammy M. Holm, Jennifer Meyers, Carmen C. Leitch, Nicholas Katsanis, Neda Sharifi,

Nature Genetics · 2005 · 1.8K citations · 19 references

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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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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

, , +9

TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes

Lynn Sanford, Ilona Ormsby, Adriana C. Gittenberger–de Groot et al. · Development · 1997 · 1.4K citations · Full text

, , +17

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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GS domain mutations that constitutively activate T beta R‐I, the downstream signaling component in the TGF‐beta receptor complex.

Rotraud Wieser, Jeffrey L. Wrana, Joan Massagué · The EMBO Journal · 1995 · 697 citations · Full text

, , +12