Concepedia

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie‐France Carette, Brigitte Gilbert‐Dussardier, Cyril Goizet, J. Roume, Muriel Rabilloud, Jean‐Christophe Saurin,

Genetics in Medicine · 2007 · 228 citations · 45 references

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References

45

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini et al. · American Journal of Medical Genetics · 2000 · 1.7K citations

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Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Kimberly A. McAllister, K.M. Grogg, David W. Johnson et al. · Nature Genetics · 1994 · 1.5K citations · Full text

, , +9

Balancing the activation state of the endothelium via two distinct TGF‐β type I receptors

Marie‐José Goumans · The EMBO Journal · 2002 · 1.1K citations · Full text

, , +12

Activin receptor-like kinase 1 modulates transforming growth factor-β1 signaling in the regulation of angiogenesis

S. Paul Oh, Tsugio Seki, Kendrick A. Goss et al. · Proceedings of the National Academy of Sciences · 2000 · 861 citations

, , +17

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

Carol J. Gallione, Gabriela M. Repetto, Eric Legius et al. · The Lancet · 2004 · 754 citations

, , +11