Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

Life Sciences, Genetics, Genomics +16

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

Life Sciences, Genetics, Pathology +14

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

Life Sciences, Genetics, Molecular Genetics +9

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

Life Sciences, Developmental Biology, Genetics +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

Life Sciences, Genetics, Molecular Genetics +11