GRMAB HHT Publications (Updated January 2008)

1. Abdalla SA, Letarte M. (2006). Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J. Med. Genet. 43: 97-110.

2. Abdalla, S., Cymerman, U., Rushlow, D., Chen, N., Stoeber, G., Lemire, E., and Letarte, M. (2005) Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum. Mutation 25: 320-321.

3. Abdalla, S.A., Cymerman, U., Johnson, R., Deber, C., and Letarte M. (2003) Disease-associated mutations in conserved residues of the ALK-1 kinase domain. Eur. J. Hum. Genet. 11: 279-287.

4. Abdalla, S.A., Gallione. C.J., Barst, R.J., Horn, E.M., Knowles, J.A., Marchuk, D.A., Letarte, M., and Morse, J.H. (2004) Primary pulmonary hypertension in families with Hereditary Hemorrhagic Telangiectasia. Eur. Respir. J. 23: 373-377.

5. Abdalla, S.A., Geisthoff, U.W., Bonneau, D., Plauchu, H., McDonald, J., Kennedy, S., Faughnan, M.E. and Letarte M. (2003) Visceral manifestations in Hereditary Hemorrhagic Telangiectasia type 2. J. Med. Gen. 40: 494-502.

6. Allinson KR, Carvalho RL, van den Brink S, Mummery CL, Arthur HM. (2007). Generation of a floxed allele of the mouse Endoglin gene. Genesis 45: 391-395.

7. Babin E, Borsik M, Braccard S, Crampette L, Darrouzet V, Faure F, Fontanel JP, Houdart E, Jankowki R, Le Clech G, Malvezzi L, Moriniere S, Perie S, Perret J, Pignat JC, Portier F, Serrano E, Plauchu H. (2005) Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa. Rev. Laryngol. Otol. Rhinol. (Bord) 126: 43-48.

8. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. (2006) A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am. J. Med. Genet. A. 140: 2155-2162.

9. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. (2006) Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am. J. Med. Gen. A. 140: 463-470.

10. Bayrak-Toydemir P., Mao R., Lewin S.,McDonald J. (2004) Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians. Genet. Med. 6: 175-191.

11. Begbie, M.E. and Shovlin, C.L. (2003) Genetics of Vascular Malformations. In: Genetics of Angiogenesis. Eds. Hoying JB. BIOS, Oxford. 147-163.

12. Begbie, M.E., Wallace, G.M.F. and Shovlin C.L. (2003) Hereditary Hemorrhagic Telangiectasia: A view from the 21st Century. Postgrad. Med. J. 79: 18-24.

13. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D and Guttmacher A. (2003) Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J. Med. Genet. 40: 585-590.

14. Bernabeu C, Conley BA, Vary CP. (2007). Novel biochemical pathways of endoglin in vascular cell physiology. J. Cell Biochem. 102: 1375-1388.

15. Blanco, F.J., Santibanez, J.F., Guerrero-Esteo, M., Langa, C., Vary, C.P.H., and Bernabeu, C. (2005). Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex. J. Cell Physiol. 204: 574-584.

16. Botella, L.M., Sanz-Rodriguez, F., Sanchez-Elsner, T., Langa, C., Ramirez J. R., Vary C., Roughley P. J. and Bernabéu C. (2004) Lumican is down-regulated in cells expressing endoglin. Evidence for an inverse correlationship between endoglin and lumican expression. Matrix Biol. 22: 561-572.

17. Buscarini E, Danesino C, Olivieri C, Lupinacci G, De Grazia F, Reduzzi L, Blotta P, Gazzaniga P, Pagella F, Grosso M, Pongiglione G, Buscarini L, Plauchu H, Zambelli A. (2004) Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia results of extensive screening. Ultraschall Med. 25: 348-355.

18. Buscarini E, Danesino C, Olivieri C, Lupinacci G, Zambelli A. (2005) Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease. Dig. Liver Dis. 37: 635-645.

19. Buscarini E, Danesino C, Plauchu H, De Fazio C, Olivieri C, Brambilla G, Menozzi F, Reduzzi L, Blotta P, Gazzaniga P, Pagella F, Grosso M, Pongiglione G, Capiello J, Zambelli A. (2004) High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med. Biol. 30: 1089-1097.

20. Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME. (2006). Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 26: 1040-1046.

21. Chan, N.L.M., Bourdeau, S., Vera, Abdalla, A., Gross, M., Wong, J., Cymerman, U., Paterson, A., Mullen, B., and Letarte, M. (2004) Umbilical vein and placental vessels from newborns with hereditary hemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. Placenta 25: 208-217.

22. Choong CK, Goodenberger DM, Picus D, Meyers BF. (2005). Surgical treatment of recurrent transient ischemic attacks and hemoptysis in a young man with multiple pulmonary arteriovenous malformations. J. Thorac. Cardiovasc. Surg. 130: 1456-1458.

23. Cirulli A, Liso A, D’Ovidio F, Mestice A, Pasculli G, Gallitelli M, Rizzi R, Specchia G, Sabba C. (2003). Vascular endothelial growth factor serum levels are elevated in patients with hereditary hemorrhagic telangiectasia. Acta Haematol. 110: 29-32.

24. Cohen, J., Faughnan, M., Letarte, M., Vandezande, K., Kennedy, S., and Krahn, M. (2005) Cost Comparison of Genetic and Clinical Screening in Families with Hereditary Hemorrhagic Telangiectasia. Am. J. Med. Genet. A. 137: 153-160.

25. Conley, B.A., Koleva, R., Smith, J.D., Kacer, D., Zhang, D., Bernabeu, C., and Vary, C.P. (2004) Endoglin controls cell migration and composition o focal adhesions: Function of the cytosolic domain. J. Biol. Chem. 279: 27440-27449.

26. Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. (2004) Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am. J. Respir. Crit. Care Med. 169: 994-1000.

27. Cowan, P.J., Shinkel, T.A., Fisicaro, N., Godwin, J. W., Bernabeu, C., Almendro, N., Rius, C., Lonie, A. J., Nottle, M. B., Wigley, P. L., Paizis, K., Pearse, M. J., and d’Apice, A. J. (2003) Targeting gene expression to endothelium in transgenic animals: a comparison of the human ICAM-2, PECAM-1 and endoglin promoters. Xenotransplantation 10: 223-231.

28. Craft CS, Romero D, Vary CPH, and Bergan RC. (2007). Endoglin inhibits prostate cancer motility via activation of the ALK2-Smad1 pathway. Oncogene 26: 7240-7250.

29. Craft, CS, Li, Xu, Romero, D, Vary, CPH, and Bergan, RC. (2008). Genistein induces phenotypic reversion of endoglin deficiency in human prostate cancer cells. Mol. Pharmacol. 73: 235-242.

30. Curie A., Lesca G., Cottin V., Edery P., Bellon G., Faughnan M.E., Plauchu H. (2007). Long-term follow-up in 12 children with Pulmonary Arteriovenous Malformations. J. Pediatr. 151: 299-306.

31. Cymerman, U., Vera, S., Karabegovic, A., Abdalla, S., and Letarte, M. (2003) Characterization of several novel endoglin mutations associated with Hereditary Hemorrhagic Telangiectasia. Hum. Mutat. 21: 482-492.

32. Di Gennaro L, Ramunni A, Suppressa P, Guastamacchia E, Resta F, Sabba C. (2005). Asymptomatic microhematuria: an indication of hereditary hemorrhagic telangectasia?. J. Urol. 173: 106-109.

33. Docherty NG, López-Novoa JM, Arevalo M, Düwel A, Rodriguez-Peña A, Pérez-Barriocanal F, Bernabeu C, Eleno N. (2006). Endoglin regulates renal ischaemia-reperfusion injury. Nephrol. Dial. Transplant. 21: 2106-2119.

34. Driesche, S van der, Mummery, C.L., and Westermann, C.J.J. (2003) Hereditary Hemorrhagic Telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc. Res. 58: 20-31.

35. Düwel A, Eleno N, Jerkic M, Arevalo M, Bolaños JP, Bernabeu C, López-Novoa JM. (2007). Reduced tumor growth and angiogenesis in endoglin-haploinsufficient mice. Tumour Biol. 28 :1-8.

36. Easey, A.J., Wallace, G.M.F., Hughes J.M.B., Jackson, J.E., Taylor, W.J., and Shovlin, C.L. (2003) Should asymptomatic patients with Hereditary Haemorrhagic Telangiectasia (HHT) be screened for cerebral malformations? Data from 22,061 years of HHT patient life. J. Neurol. Neurosurg. Psychiatry 74: 743-748.

37. Faughnan, M.E., Thabet, A., Mei-Zahav, M., Colombo, M., MacLusky, I., Hyland, R.H., Pugash, R.A., Chait, P., Henderson, K.J., White, R.I. (2004) Pulmonary arteriovenous malformations in children: Outcomes of transcatheter embolotherapy. J. Pediatr. 145: 826-831.

38. Fernandez-L A, Garrido-Martin EM, Sanz-Rodriguez F, Pericacho M, Rodriguez-Barbero A, Eleno N, Lopez-Novoa JM, Düwell A, Vega MA, Bernabeu C, Botella LM. (2007). Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia. Hum. Mol. Genet. 16: 1515-1533.

39. Fernandez-L A, Garrido-Martin EM, Sanz-Rodriguez F, Ramirez JR, Morales-Angulo C, Zarrabeitia R, Perez-Molino A, Bernabéu C, Botella LM. (2007). Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT): regulation of ALK-1/endoglin pathway in endothelial cells. Thromb. Haemost. 97: 254-262.

40. Fernández-L A, Sanz-Rodriguez F, Blanco FJ, Bernabéu C, Botella LM. (2006). Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway. Clin. Med. Res. 4: 66-78.

41. Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Morales C, Restrepo CM, Ramirez JR, Coto E, Lenato GM, Bernabeu C, Botella LM. (2006). Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. Hum. Mutat. 27: 295.

42. Fernandez-L, A., Sanz-Rodriguez, F., Zarrabeitia, R., Perez-Molino, A., Hebbel, R.P., Nguyen, J., Bernabeu, C., Botella, L.M. (2005). Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. Cardiovasc. Res. 68: 235-248.

43. Fiorella M.L., Ross D.G., Henderson K.J., White R.I. (2005) Outcome of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia. Laryngoscope 115: 301-305.

44. Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leediom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJJ, Pyeritz RE, Marchuk DA. (2006). SMAD4 mutations found in unselected HHT patients. J. Med. Genet. 43: 793-797.

45. Gallione, C.J., Repetto, G.M., Legius, E., Rustgi, A., Schelley, S.L., Tejpar, S., Mitchell, G., Drouin, E., Westermann, C.J.J., and Marchuk, D.A. (2004) A combined syndrome of juvenile polyposis and Hereditary Haemorrhagic Telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363: 852-859.

46. Gallitelli M, Guastamacchia E, Resta F, Guanti G, Sabba C. (2006). Pulmonary Arteriovenous Malformations, Hereditary Hemorrhagic Telangiectasia, and Brain Abscess. Respiration 73: 553-557.

47. Gallitelli M, Lepore V, Pasculli G, Di Gennaro L, Logroscino G, Carella A, White RI, Sabba C. (2005). Brain abscess: a need to screen for pulmonary arteriovenous malformations. Neuroepidemiology 24: 76-78.

48. Gallitelli M, Pasculli G, Sabba C. (2006). Emergencies in hereditary hemorrhagic teleangiectasia. QJM. 99: 15-22.

49. Gallitelli M, Ungaro, N, Addante LM, Procacci V, Silveri NG, Sabba C. (2005). Respiratory illness as a reaction to tropical algal blooms occurring in a temperate climate. JAMA. 293: 2599-2600. Erratum in: JAMA. 2005 Jul 6; 294(1): 44.

50. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. (2007). Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J. Mol. Diagn. 9: 258-265.

51. Guo, B., Rooney, P., Slevin, M., Li, C., Parameshwar, S., Liu, D., Kumar, P., Bernabeu, C., and Kumar, S. (2004). Overexpression of CD105 in rat myoblasts: role of CD105 in cell attachment, spreading and survival. Int. J. Oncol. 25: 285-291.

52. Guo, B., Slevin, M., Li, C., Parameshwar, S., Liu, D., Kumar, P., Bernabeu, C., and Kumar, S. (2004). CD105 inhibits transforming growth factor-beta-Smad3 signalling. Anticancer Res. 24: 1337-1345.

53. Guttmacher A, Marchuck D, Pyeritz RE (2007). Hereditary hemorrhagic telangiectasia. In: Rimoin DL, Conner JM, Pyeritz RE, Korf BR (eds). Principles and Practice of Medical Genetics (5th Ed). Philadelphia: Churchill Livingstone, 2007; pp. 1200-1213.

54. Hashimoto, M., Tate, E., Nishii, T., Watarai, J., Shioya, T., and White, R.I. (2003). Angiography of Hepatic Vascular Malformations Associated with Hereditary Hemorrhagic Telangiectasia. Cardiovasc. Intervent. Radiol. 26: 177-180.

55. Hashimoto, T., Lawton, M.T., Wen, G., Yang, G.Y., Chaly, T., Stewart, C.L., Dressman, H.K., Barbaro, N.M., Marchuk, D.A., and Young, W.L. (2004). Gene Microarray Analysis of Human Brain Arteriovenous Malformations. Neurosurgery 54: 410-423.

56. Hong, K-H, Seki T., and Oh, S.P. (2007). Activin receptor-like kinase 1 (ALK1) is essential for placental vascular development in mice. Lab. Invest. 87: 670-679.

57. Ianora, A.A., Memeo, M., Sabba, C., Cirulli, A., Rotondo, A., and Angelelli, G. (2004) Hereditary Hemorrhagic Telangiectasia: Multi-Detector Row Helical CT Assessment of Hepatic Involvement. Radiology 230: 250-259.

58. Ingrosso M, Sabba C., Pisani A, Principi M, Gallitelli M, Cirulli A, Francavilla A. (2004). Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study. Endoscopy 36: 1074-1079.

59. Inouye, P., Marcon, N., Pugash, R.A., Hyland, R.H., and Faughnan, M.E. (2003) Embolization of a Duodenal Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia. Can. J. Gastroenterol. 17: 661-665.

60. Jaskolka, J., Wu L., Chan, R.P., Faughnan, M.E. (2004). Imaging of Hereditary Hemorrhagic Telangiectasia. AJR Am. J. Roentgenol. 183: 307-314.

61. Jerkic M, Rivas-Elena JV, Santibanez JF, Prieto M, Rodríguez-Barbero A, Perez-Barriocanal F, Pericacho M, Arévalo M, Vary CP, Letarte M, Bernabeu C, López-Novoa JM. (2006). Endoglin regulates cyclooxygenase-2 expression and activity. Circ. Res. 99: 248-256.

62. Jerkic M, Rodríguez-Barbero A, Prieto M, Toporsian M, Pericacho M, Rivas-Elena JV, Obreo J, Wang A, Pérez-Barriocanal F, Arévalo M, Bernabéu C, Letarte M, López-Novoa JM. (2006). Reduced angiogenic responses in adult Endoglin heterozygous mice. Cardiovasc. Res. 69 :845-854.

63. Jerkic, M., Rivas-Elena, J.V., Prieto, M., Carron, R., Sanz-Rodriguez, F., Perez-Barriocanal, F., Rodriguez-Barbero, A., Bernabeu, C. and Lopez-Novoa J.M. (2004) Endoglin regulates nitric oxide-dependent vasodilatation. FASEB J. 18: 609-611.

64. Karabegovic, A., Shinawi M., Cymerman U., and Letarte, M. (2004). No live individual homozygous for a novel endoglin mutation in a consanguineous Arab family with hereditary hemorrhagic telangiectasia. J. Med. Genet. 41: e119.

65. Khan ZA, Melero-Martin JM, Wu X, Paruchuri S, Boscolo E, Mulliken JB, Bischoff J. (2006). Endothelial progenitor cells from infantile hemangioma and umbilical cord blood display unique cellular responses to endostatin. Blood 108: 915-921.

66. Koleva RI, Conley, A, Romero D, Riley KS, Marto JA, Lux A, Vary, CPH. (2006). Endoglin structure and function: Determinants of endoglin phosphorylation by TGFb receptors. J. Biol. Chem. 281: 25110-25123.

67. Krings T, Chng SM, Ozanne A, Alvarez H, Rodesch G, Lasjaunias PL. (2005) Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations Results in 31 patients. Neuroradiology 47: 946-954.

68. Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL. (2005). Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology 47: 711-720.

69. Lastella, P., Sabba, C., Lenato, G., Resta, N., Lattanzi, W., Gallitelli, M., Cirulli, A. and Guanti, G. (2003) Endoglin gene mutations and polymorphisms in Italian patients with Hereditary Haemorrhagic Telangiectasia. Clin. Genet. 63: 536-540.

70. Lee YM, Cope JJ, Ackermann GE, Goishi K, Armstrong EJ, Paw BH, Bischoff J. (2006). Vascular endothelial growth factor receptor signaling is required for cardiac valve formation in zebrafish. Dev. Dyn. 235: 29-237.

71. Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network. (2007). Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network. Genet Med. 9: 14-22.

72. Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Riviere S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S on behalf of the French Rendu-Osler network. (2004). Molecular screening of ALK1/ACVRL1 and ENG genes in Hereditary Hemorrhagic Telangiectasia in France. Hum. Mutat. 23: 289-299.

73. Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI Jr. (2007). Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. Am. J. Rhinol. 21: 312-315.

74. Letarte, M., McDonald, M., Li, C., Kathirkamathamby, K., Vera, S., Pece-Barbara, N., Kumar, S. (2005) Reduced endothelial secretion and plasma levels of TGF-beta1 in patients with Hereditary Hemorrhagic Telangiectasia type 1. Cardiovasc. Res. 68: 155-164.

75. Letarte, M., Voulgaraki, D., Hartherley, D., Foster-Cuevas, M., Saunders, N.J., and Barclay, N. (2005) Analysis of leukocyte membrane protein interactions using protein microarrays. BMC Biochem. 6:

76. Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJJ (2006). Genotype-phenotype relationship in HHT. J. Med. Genet. 43: 371-377.

77. Letteboer, T.G.W., Zewald, R.A., Kamping, E.J., de Haas, G., Mager, J.J., Snijder, R.J., Lindhout, D., Hennekam, F.A.M., Westermann, C.J.J., Ploos van Amstel, J.K. (2005). Hereditary hemorrhagic Telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum. Genet. 116: 8-16.

78. Li, C., Guo, B., Ding, S., Rius, C., Langa, C., Kumar, P., Bernabeu, C., and Kumar, S. (2003). TNF alpha down-regulates CD105 expression in vascular endothelial cells: a comparative study with TGF beta 1. Anticancer Res. 23: 1189-1196.
79. Li, C., Issa, R., Kumar, P., Hampson, I.N., Lopez-Novoa, J. M., Bernabeu, C., and Kumar, S. (2003). CD105 prevents apoptosis in hypoxic endothelial cells. J. Cell. Sci. 116: 2677-2685.

80. Llorca O, Trujillo A, Blanco FJ, Bernabeu C. (2007). Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia. J. Mol. Biol. 365: 694-705.

81. Longacre, A.V., Gross, C.P., Gallitelli, M., Henderson, K.J., White, R.I., and Proctor, D.D. (2003). Diagnosis and Management of Gastrointestinal Bleeding in patients with Hereditary Hemorrhagic Telangiectasia. Am. J. Gastroenterol. 98: 59-65.

82. López-Novoa JM. (2007). Soluble endoglin is an accurate predictor and a pathogenic molecule in pre-eclampsia. Nephrol. Dial. Transplant. 22: 712-714.

83. Magger, J.J., Ovetoom, T.T., Blauve, J., Lammers, J.W., and Westermann, C.J. (2004) Embolotherapy of pulmonary arteriovenous malformations: Long term results in 112 patients. J. Vasc. Interv. Radiology 15: 451-456.

84. Mancini ML, Verdi JM, Conley BA, Nicola T, Spicer DB, Oxburgh LH, and Vary CPH. (2007). Endoglin is required for myogenic differentiation potential of neural crest stem cells. Dev. Biol. 308: 520-533.

85. McDonald J, Bayrak-Toydemir P. (2005). Hereditary Hemorrhagic Telangiectasia. Haematologica 90: 728-732.

86. Mei-Zahav M, Letarte M, Faughnan ME, Abdalla SA, Cymerman U, MacLusky IB. (2006). Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience. Arch. Pediatr. Adolesc. Med. 160: 596-601.

87. Melero-Martin JM, Khan ZA, Picard A, Wu X, Paruchuri S, Bischoff J. (2007). In vivo vasculogenic potential of human blood-derived endothelial progenitor cells. Blood 109: 4761-4768.

88. Memeo M, Scardapane A, Stabile Ianora AA, Sabbà C, Angelelli G. (2006) Hereditary haemorrhagic teleangiectasia: diagnostic imaging of visceral involvement. Curr. Pharm. Des. 12: 1227-1235.

89. Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabba C., Angelli G. (2004). Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom. Imaging. 29: 211-220.

90. Memeo M, Stabile Ianora AA, Scardapane A, Suppressa P, Cirullia A, Sabba C., Rotondo A, Angelelli G. (2005). Hereditary haemorrhagic telangiectasia: study of hepatic vascular alterations with multi-detector row helical CT and reconstruction programs. Radiol. Med. (Torino). 109: 125-138.

91. Milic A., Chan R.P., Cohen J.H., Faughnan M.E. (2005). Reperfusion of Pulmonary AVMs Following Embolotherapy. J. Vasc. Inter. Radiol. 16: 1675-1683.

92. Muñoz R, Arias Y, Ferreras JM, Rojo MA, Gayoso MJ, Nocito M, Benitez J, Jiménez P, Bernabéu C, Girbés T. (2007). Targeting a marker of the tumour neovasculature using a novel anti-human CD105-immunotoxin containing the non-toxic type 2 ribosome-inactivating protein nigrin b. Cancer Lett. 256: 73-80.

93. Obreo,J., Díez-Marques, L., Lamas, S., Düwell, A., Eleno, N., Bernabéu, C., Pandiella, A., López-Novoa, J.M. and Rodríguez-Barbero, A. (2004). Endoglin expression regulates basal and TGF-β1-induced extracellular matrix synthesis in cultured L6E9 myoblasts. Cell. Physiol. Biochem. 14: 301-310.

94. Ocana A, Rodríguez-Barbero A, Pericacho M, Bellido L, Seijas R, López R, Delgado C, de Prado DS, Cruz-Hernández JJ, López-Novoa JM. (2007). Human recombinant erythropoietic agents do not induce changes in circulating levels of endoglin and vascular endothelial growth factor in anemic cancer patients. Cancer Lett. 255: 71-76.

95. Oh, S.P., Seki, T., Goss, K.A., Yi, Y. Imamura, T., Donahoe, P.K., ten Dijke, P., Miyazono K., Kim, S. and Li, E. (2000) Activin Receptor-Like Kinase-1 (ALK-1) modulates TGF-β1 signaling in regulation of angiogenesis. Proc. Nat. Acad. Sci. USA 97: 2626-2631.

96. Olivieri C, Lanzarini L, Pagella F, Semino L, Corno S, Valacca C, Plauchu H, Lesca G, Barthelet M, Buscarini E, Danesino C. (2006). Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. Genet. Med. 8: 183-190.

97. Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C. (2007). Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J. Hum. Genet. 52: 820-829.

98. Pagella F, Semino L, Olivieri C, Corno S, Dore R, Draghi F, Lanzarini L, Vespro V, Buscarini E, Danesino C. (2006). Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia. Am. J. Rhinol. 20: 421-425.

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