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MeSH Review

Telangiectasia, Hereditary Hemorrhagic

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Disease relevance of Telangiectasia, Hereditary Hemorrhagic


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Chemical compound and disease context of Telangiectasia, Hereditary Hemorrhagic


Biological context of Telangiectasia, Hereditary Hemorrhagic


Anatomical context of Telangiectasia, Hereditary Hemorrhagic


Gene context of Telangiectasia, Hereditary Hemorrhagic


Analytical, diagnostic and therapeutic context of Telangiectasia, Hereditary Hemorrhagic


  1. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. Trembath, R.C., Thomson, J.R., Machado, R.D., Morgan, N.V., Atkinson, C., Winship, I., Simonneau, G., Galie, N., Loyd, J.E., Humbert, M., Nichols, W.C., Morrell, N.W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., Wheeler, L. N. Engl. J. Med. (2001) [Pubmed]
  2. Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). Iannuzzi, M.C., Hidaka, N., Boehnke, M., Bruck, M.E., Hanna, W.T., Collins, F.S., Ginsburg, D. Am. J. Hum. Genet. (1991) [Pubmed]
  3. Intranasal tranexamic acid treatment for severe epistaxis in hereditary hemorrhagic telangiectasia. Klepfish, A., Berrebi, A., Schattner, A. Arch. Intern. Med. (2001) [Pubmed]
  4. Embolization of hepatic arteriovenous malformations using radiolabeled and nonradiolabeled polyvinyl alcohol sponge in a patient with hereditary hemorrhagic telangiectasia: case report. Whiting, J.H., Morton, K.A., Datz, F.L., Patch, G.G., Miller, F.J. J. Nucl. Med. (1992) [Pubmed]
  5. Hereditary hemorrhagic telangiectasia versus CREST syndrome: can serology aid diagnosis? Fritzler, M.J., Arlette, J.P., Behm, A.R., Kinsella, T.D. J. Am. Acad. Dermatol. (1984) [Pubmed]
  6. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. Korzenik, J.R., Topazian, M.D., White, R. N. Engl. J. Med. (1994) [Pubmed]
  7. Defective angiogenesis in mice lacking endoglin. Li, D.Y., Sorensen, L.K., Brooke, B.S., Urness, L.D., Davis, E.C., Taylor, D.G., Boak, B.B., Wendel, D.P. Science (1999) [Pubmed]
  8. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. Pece, N., Vera, S., Cymerman, U., White, R.I., Wrana, J.L., Letarte, M. J. Clin. Invest. (1997) [Pubmed]
  9. Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Oh, S.P., Seki, T., Goss, K.A., Imamura, T., Yi, Y., Donahoe, P.K., Li, L., Miyazono, K., ten Dijke, P., Kim, S., Li, E. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  10. Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Pece-Barbara, N., Cymerman, U., Vera, S., Marchuk, D.A., Letarte, M. Hum. Mol. Genet. (1999) [Pubmed]
  11. The effect of desmopressin on massive gastrointestinal bleeding in hereditary telangiectasia unresponsive to treatment with cryoprecipitate. Quitt, M., Froom, P., Veisler, A., Falber, V., Sova, J., Aghai, E. Arch. Intern. Med. (1990) [Pubmed]
  12. Hemostatic effects of tamoxifen in hereditary hemorrhagic telangiectasia. Zacharski, L.R., Dunbar, S.D., Newsom, W.A. Thromb. Haemost. (2001) [Pubmed]
  13. Is thalidomide effective for the treatment of gastrointestinal bleeding in hereditary hemorrhagic telangiectasia? Pérez-Encinas, M., Rabuñal Martínez, M.J., Bello López, J.L. Haematologica (2002) [Pubmed]
  14. Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy. Gershon, A.S., Faughnan, M.E., Chon, K.S., Pugash, R.A., Clark, J.A., Bohan, M.J., Henderson, K.J., Hyland, R.H., White, R.I. Chest (2001) [Pubmed]
  15. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Greenspan, D.S., Northrup, H., Au, K.S., McAllister, K.A., Francomano, C.A., Wenstrup, R.J., Marchuk, D.A., Kwiatkowski, D.J. Genomics (1995) [Pubmed]
  16. Vascular gene transfer driven by endoglin and ICAM-2 endothelial-specific promoters. Velasco, B., Ramírez, J.R., Relloso, M., Li, C., Kumar, S., Lopez-Bote, J.P., Pérez-Barriocanal, F., López-Novoa, J.M., Cowan, P.J., d'Apice, A.J., Bernabéu, C. Gene Ther. (2001) [Pubmed]
  17. Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex. Blanco, F.J., Santibanez, J.F., Guerrero-Esteo, M., Langa, C., Vary, C.P., Bernabeu, C. J. Cell. Physiol. (2005) [Pubmed]
  18. Estriol induced squamous metaplasia on the nasal mucosa in patients with hereditary hemorrhagic telangiectasia. Sadick, H., Bergler, W.F., Oulmi-Kagermann, J., Naim, R., Sadick, M., Hörmann, K., Riedel, F. Arch. Med. Res. (2005) [Pubmed]
  19. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Abdalla, S.A., Pece-Barbara, N., Vera, S., Tapia, E., Paez, E., Bernabeu, C., Letarte, M. Hum. Mol. Genet. (2000) [Pubmed]
  20. Endoglin null endothelial cells proliferate faster and are more responsive to transforming growth factor beta1 with higher affinity receptors and an activated Alk1 pathway. Pece-Barbara, N., Vera, S., Kathirkamathamby, K., Liebner, S., Di Guglielmo, G.M., Dejana, E., Wrana, J.L., Letarte, M. J. Biol. Chem. (2005) [Pubmed]
  21. Angiogenesis in hereditary hemorrhagic telangiectasia: VEGF165 plasma concentration in correlation to the VEGF expression and microvessel density. Sadick, H., Naim, R., Gössler, U., Hörmann, K., Riedel, F. Int. J. Mol. Med. (2005) [Pubmed]
  22. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. Newman, J.H., Trembath, R.C., Morse, J.A., Grunig, E., Loyd, J.E., Adnot, S., Coccolo, F., Ventura, C., Phillips, J.A., Knowles, J.A., Janssen, B., Eickelberg, O., Eddahibi, S., Herve, P., Nichols, W.C., Elliott, G. J. Am. Coll. Cardiol. (2004) [Pubmed]
  23. The TGF{beta} activated kinase TAK1 regulates vascular development in vivo. Jadrich, J.L., O'connor, M.B., Coucouvanis, E. Development (2006) [Pubmed]
  24. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia. Maarouf, M., Runge, M., Kocher, M., Zähringer, M., Treuer, H., Sturm, V. Neurology (2004) [Pubmed]
  25. Hereditary hemorrhagic telangiectasia. A case with hepatocellular carcinoma and acquired hepatocerebral degeneration. Sussman, E.B., Sternberg, S.S. Archives of pathology. (1975) [Pubmed]
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