Prevalence of Pulmonary Arteriovenous Malformations in Children versus Adults with Hereditary Hemorrhagic Telangiectasia

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

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

David W. Johnson, Jonathan Berg, Melanie A. Baldwin et al. · Nature Genetics · 1996 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +8

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

Marie E. Faughnan, Valerie A. Palda, Guadalupe García–Tsao et al. · Journal of Medical Genetics · 2009 · 1.1K citations

Life Sciences, Genetics, Genetic Counseling +16

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

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

Henri Plauchu, Jean‐Pierre de Chadarévian, Alain Bideau et al. · American Journal of Medical Genetics · 1989 · 582 citations

Medicine, Geriatric Medicine, Pathology +10