Concepedia

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, Takayuki Morisaki, Delphine Allard, Mathilde Varret, Mireille Claustres, Hiroko Morisaki,

Nature Genetics · 2004 · 616 citations · 14 references

DOIFull text

Open access

Concepts

References

14

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

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

, , +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

, , +14

Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer.

Ramon Parsons, Lois L. Myeroff, B. Liu et al. · PubMed · 1995 · 741 citations

, , +14

Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.

William M. Grady, Lois L. Myeroff, Sandra E. Swinler et al. · PubMed · 1999 · 392 citations

, , +15