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GRMAB HHT Publications (Updated June 2013)

1. Abdalla S, Cymerman U, Rushlow D, Chen N, Stoeber G, Lemire E, Letarte M. (2005). Novel mutations and polymorphisms in genes causing hereditary hemorrhagic . Hum. Mutat. 25: 320-321. doi: 10.1002/humu.9312. 2. Abdalla SA, Cymerman U, Johnson R, Deber C, Letarte M. (2003). Disease- associated mutations in conserved residues of the ALK-1 kinase domain. Eur. J. Hum. Genet. 11: 279-287. doi:10.1038/sj.ejhg.5200919. 3. Abdalla SA, Gallione CJ, Barst RJ, Horn EM, Knowles JA, Marchuk DA, Letarte M, Morse JH. (2004). Primary pulmonary in families with Hereditary Hemorrhagic Telangiectasia. Eur. Respir. J. 23: 373-377. doi: 10.1183/09031936.04.00085504. 4. Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte M. (2003). Visceral manifestations in Hereditary Hemorrhagic Telangiectasia type 2. J. Med. Gen. 40: 494-502. doi: 10.1136/jmg.40.7.494. 5. Abdalla SA, Letarte M. (2006). Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J. Med. Genet. 43: 97-110. doi: 10.1136/jmg.2005.030833. 6. Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M (2000). Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum. Mol. Genet. 9: 1227-1237. doi: 10.1093/hmg/9.8.1227. 7. Albiñana V, Bernabeu-Herrero ME, Zarrabeitia R, Bernabeu C, Botella LM. (2010). Estrogen therapy for Hereditary Haemorrhagic Telangiectasia (HHT): Effects of Raloxifene, on Endoglin and ALK1 expression in endothelial cells. Thromb. Haemost. 103: 525-534. 8. Albiñana V, Recio-Poveda L, Zarrabeitia R, Bernabéu C, Botella LM. (2012). Propranolol as antiangiogenic candidate for the therapy of hereditary haemorrhagic telangiectasia. Thromb. Haemost. 108: 41-53. doi: 10.1160/TH11-11-0809. 9. Albiñana V, Sanz-Rodriguez F, Recio-Poveda L, Bernabeu C, Botella LM. (2011). Immunosuppressor FK506 increases endoglin and ALK1 expression and modulates TGF-beta signaling in endothelial cells. Mol. Pharmacol. 79: 833-843. 10. Allen P, Melero-Martin J, Bischoff J. (2011). Type I collagen, fibrin and PuraMatrix matrices provide permissive environments for human endothelial and mesenchymal progenitor cells to form neovascular networks. J. Tissue Eng. Regen. Med. 5(4):e74-86. doi: 10.1002/term.389. 11. 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. 12. Allinson KR, Lee HS, Fruttiger M, McCarty JH, Arthur HM. (2012). Endothelial expression of TGFβ type II receptor is required to maintain vascular integrity during postnatal development of the central nervous system. PLoS One. 2012;

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7(6):e39336. doi: 10.1371/journal.pone.0039336. Erratum in: PLoS One. 2012 Sep;7(9). doi: 10.1371/annotation/8d859757-284b-406d-9cb9-a8776ad32fb1. 13. Al-Saleh S, Dragulescu A, Manson D, Golding F, Traubici J, Mei-Zahav M, Maclusky IB, Faughnan ME, Carpenter S, Ratjen F. (2012). Utility of contrast echocardiography for pulmonary arteriovenous malformation screening in pediatric hereditary hemorrhagic telangiectasia. J. Pediatr. 160: 1039-1043.e1. doi: 10.1016/j.jpeds.2011.11.038. 14. Al-Saleh S, John PR, Letarte M, Faughnan ME, Belik J, Ratjen F. (2011). Symptomatic involvement in neonatal hereditary hemorrhagic telangiectasia. Pediatrics. 127(6):e1615-1620. doi: 10.1542/peds.2010-2366. 15. Al-Saleh S, Mei-Zahav M, Faughnan ME, MacLusky IB, Carpenter S, Letarte M, Ratjen F. (2009). Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Eur. Respir. J. 34: 875-881. doi: 10.1183/09031936.00030009. 16. Alt A, Miguel-Romero L, Donderis J, Aristorena M, Blanco FJ, Round A, Rubio V, Bernabeu C, Marina A. (2012). Structural and functional insights into endoglin ligand recognition and binding. PLoS ONE 7(2): e29948. 12 pages. doi:10.1371/journal.pone.0029948. 17. Alvarez-Muñoz P, Mauer M, Kim Y, Rich SS, Miller ME, Russell GB, Lopez-Novoa JM, Caramori ML. (2010). Cellular basis of diabetic nephropathy: V. Endoglin expression levels and diabetic nephropathy risk in patients with Type 1 diabetes. J. Diabetes Complications 24: 242-249. 18. Anderberg C, Cunha S , Zhai Z , Pardali E, Cortez E, Johnson J, Franco M, Paez- Ribes M, Cordiner R, Fuxe J, Goumans MJ, Casanovas O, ten Dijke P, Arthur HM, Pietras K. (2013). Adaptation to impaired tumor angiogenesis in endoglin-deficient mice is paralleled by increased metastatic dissemination caused by a weakened endothelial barrier. J. Exp. Med. 210: 563-579. doi: 10.1084/jem.20120662. 19. Andersen PE, Kjeldsen AD, Oxhøj H, Vase P, White RI Jr. (1998). Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol. 39: 723-726. PMID: 9817050. 20. Andersen PE, Kjeldsen AD, Oxhøj H, Vase P. (2001). Percutaneous transluminal embolization of pulmonary arteriovenous malformations]. Ugeskr. Laeger. 163: 925-928. Danish. PMID: 11228789. 21. Andersen PE, Kjeldsen AD. (2001). Pulmonary arteriovenous malformations. Current therapeutic principles. Ugeskr. Laeger. 163: 4398-43401. Review. Danish. PMID: 11521579. 22. Andersen PE, Kjeldsen AD. (2006). Clinical and radiological long-term follow-up after embolization of pulmonary arteriovenous malformations. Cardiovasc. Intervent. Radiol. 29: 70-74. PMID: 16195839.

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23. Andersen PE, Kjeldsen AD. (2007). Occlusion of pulmonary arteriovenous malformations by use of vascular plug. Acta Radiol. 48: 496-499. PMID: 17520424. 24. Andersen PE, Kjeldsen AD. (2008). Long-term follow-up after embolization of pulmonary arteriovenous malformations with detachable silicone balloons. Cardiovasc. Intervent. Radiol. 31: 569-574. PMID: 18157681. 25. Andersen PE, Kjeldsen AD. (2010). Interventional treatment of pulmonary arteriovenous malformations. World J. Radiol. 2: 339-344. doi: 10.4329/wjr.v2.i9.339. 26. Andersen PJ, Kjeldsen AD, Nepper-Rasmussen J. (2005). Selective embolization in the treatment of intractable epistaxis. Acta Otolaryngol. 125: 293-297. PMID: 15966700. 27. Arthur HM, Bamforth SD. (2011). TGFβ signaling and congenital heart disease: Insights from mouse studies. Birth Defects Res. A Clin. Mol. Teratol. 91: 423-434. doi: 10.1002/bdra.20794. 28. 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. 29. Bailly S, Dupuis-Girod S, Plauchu H. (2010). Dysfonctionnement de la signalisation TGFβ dans les cellules endothéliales. Rendu-Osler disease: clinical and molecular update. Med. Sci. (Paris). 26: 855-860. doi: 10.1051/medsci/20102610855. 30. 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. 31. 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. 32. Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E. (2008). Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. Exp. Mol. Pathol. 85: 45-49. 33. 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. 34. Begbie ME, Shovlin CL. (2003). Genetics of Vascular Malformations. In: Genetics of Angiogenesis. Eds. Hoying JB. BIOS, Oxford. 147-163. ISBN: 9781859960592. 35. Begbie ME, Wallace GMF, Shovlin CL. (2003). Hereditary Hemorrhagic Telangiectasia: A view from the 21st Century. Postgrad. Med. J. 79: 18-24.

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36. Beiroa D, Romero-Picó A, Langa C, Bernabeu C, López M, López-Novoa JM, Nogueiras R, Diéguez C. (2013). Heterozygous Deficiency of Endoglin Decreases Insulin and Hepatic Triglyceride Levels during High Diet. PLoS One. 8(1):e54591. doi:10.1371/journal.pone.0054591. 37. Belik J, Jerkic M, McIntyre BAS, Pan J, Leen J, Yu LX, Henkelman RM, Toporsian M, Letarte M. (2009). Age-dependent endothelial synthase uncoupling in pulmonary of endoglin heterozygous mice. Am. J. Pathol. Lung Cell Mol. Physiol. 297: L1170-L1178. 38. Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ. (2012). Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. Nat. Commun. 3: 616. doi: 10.1038/ncomms1633. 39. Berg AM, Amirbekian S, Mojibian H, Trow TK, Smith SJ, White RI Jr. (2010). Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. Chest 137: 705-707. 40. 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. 41. Bernabeu C, Blanco FJ, Langa C, Garrido-Martin EM, Botella LM. (2010). Involvement of the TGF-beta superfamily signalling pathway in hereditary haemorrhagic telangiectasia. J. Applied Biomed. 8: 169-177. doi: 10.2478/v10136- 009-0020-x. 42. Bernabeu C, Conley BA, Vary CP. (2007). Novel biochemical pathways of endoglin in vascular cell physiology. J. Cell Biochem. 102: 1375-1388. doi: 10.1002/jcb.21594. 43. Bernabeu C, Lopez-Novoa JM, Quintanilla M. (2009). The emerging role of TGF- beta superfamily coreceptors in cancer. Biochim. Biophys. Acta 1792: 954-973. doi: 10.1016/j.bbadis.2009.07.003. 44. Bernabeu C, Shovlin, CL. (2011). TRC-105, an anti-endoglin chimeric mAb for the potential treatment of cancer. Thomson Reuters Pharma (21 December, 2011) 10 pages. https://www.thomson-pharma.com/portal/page/portal/Reports. 45. Bernhardt BA, Pyeritz RE. (2011). When genetic screening is useful, but not used. LDI Issue Brief 16 (8): 1-4. PMID: 21863606. 46. Bernhardt BA, Zayac C, Pyeritz RE. (2011). Why is genetic screening for autosomal dominant disorders underutilized in families? The case of hereditary hemorrhagic telangiectasia. Genet. Med. 13: 812-820. doi: 10.1097/GIM.0b013e31821d2e6d.

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47. Bernhardt BA, Zayac C, Trerotola SO, Asch DA, Pyeritz RE. (2012). Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. Genet. Med. 14: 604-610. doi: 10.1038/gim.2011.56. 48. Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak- Toydemir P. (2011). Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. J. Med. Genet. 48: 358-360. doi: 10.1136/jmg.2010.088286. 49. Bharatha A, Faughnan ME, Kim H, Pourmohamad T, Krings T, Bayrak-Toydemir P, Pawlikowska L, McCulloch CE, Lawton MT, Dowd CF, Young WL, terBurgge KG. (2012). Brain arteriovenous malformation multiplicity predicts diagnosis of Hereditary Hemorrhagic Telangiectasia: Quantitative assessment. . 43: 72- 78. doi: 10.1161/STROKEAHA.111.629865. 50. Blanco FJ, Bernabéu C (2012). Alternative Splicing in Endothelial Senescence: Role of the TGF-β Co-Receptor Endoglin. In Senescence, Tetsuji Nagata (Ed.), ISBN:978-953-51-0144-4. http://www.intechopen.com/articles/show/title/alternative- splicing-in-endothelial-senescence-role-of-the-tgf-beta-co-receptor-endoglin. 51. Blanco FJ, Bernabeu C. (2011). ASF/SF2 is a key splicing factor for intron retention of the endoglin gene during endothelial senescence. Aging Cell 10: 896-907. doi: 10.1111/j.1474-9726.2011.00727.x. 52. Blanco FJ, Bernabéu C. (2012). The Splicing Factor SRSF1 as a Marker for Endothelial Senescence. Front. Physiol. 2012; 3:54. doi: 10.3389/fphys.2012.00054. 53. Blanco FJ, Grande MT, Langa C, Oujo B, Velasco S, Rodriguez-Barbero A, Perez- Gomez E, Quintanilla M, López-Novoa JM, Bernabeu C. (2008). S-endoglin expression is induced in senescent endothelial cells and contributes to vascular pathology. Circ. Res. 103: 1383-1392. 54. Blanco FJ, Santibanez JF, Guerrero-Esteo M, Langa C, Vary CPH, 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. 55. Blazquez-Medela AM, Garcia-Ortiz L, Gomez-Marcos MA, Recio-Rodriguez JL, Sanchez-Rodriguez A, Lopez-Novoa JM, Martinez-Salgado C. (2010). Increased plasma soluble endoglin levels as an indicator of cardiovascular alterations in hypertensive and diabetic patients. BMC Medicine 8: 86. 56. Borges L, Iacovino M, Mayerhofer T, Koyano-Nakagawa N, Baik J, Garry DJ, Kyba M, Letarte M, Perlingeiro RC. (2012). A critical role for endoglin in the emergence of during embryonic development. Blood 119: 5417-5428. doi: 10.1182/blood-2011-11-391896. 57. Boscolo E, Mulliken JB, Bischoff J. (2011). VEGFR-1 mediates endothelial differentiation and formation of blood vessels in a murine model of infantile hemangioma. Am. J. Pathol. 179: 2266-2277. doi: 10.1016/j.ajpath.2011.07.040.

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58. Boscolo E, Mulliken JB, Bischoff J. (2013). Pericytes from infantile hemangioma display proangiogenic properties and dysregulated angiopoietin-1. Arterioscler. Thromb. Vasc. Biol. 33: 501-509. doi: 10.1161/ATVBAHA.112.300929. 59. Boscolo E, Stewart CL, Greenberger S, Wu JK, Durham JT, Herman IM, Mulliken JB, Kitajewski J, Bischoff J. (2011). JAGGED1 signaling regulates hemangioma stem cell-to-pericyte/vascular smooth muscle cell differentiation. Arterioscler. Thromb. Vasc. Biol. 31: 2181-2192. doi: 10.1161/ATVBAHA.111.232934. 60. Boshuisen K, Brundel M, de Kovel CGF, Letteboer TG, Rinkel GJE, Westermann CJJ, Kim H, Pawlikowska L, Koeleman BPC, Klijn CJM. (2013). Polymorphisms in ACVRL1 and Endoglin Genes are Not Associated with Sporadic and HHT-Related Brain AVMs in Dutch Patients. Transl. Stroke Res. 4: 375-378. doi: 10.1007/s12975-012-0231-4. 61. Botella LM, Sánchez-Elsner T, Rius C, Corbí A, Bernabéu C. (2001). Identification of a critical Sp1 site within the endoglin promoter and its involvement in the transforming growth factor-beta stimulation. J. Biol. Chem. 276: 34486-34494. doi: 10.1074/jbc.M011611200. 62. Botella LM, Sánchez-Elsner T, Sanz-Rodriguez F, Kojima S, Shimada J, Guerrero- Esteo M, Cooreman MP, Ratziu V, Langa C, Vary CP, Ramirez JR, Friedman S, Bernabéu C. (2002). Transcriptional activation of endoglin and transforming growth factor-beta signaling components by cooperative interaction between Sp1 and KLF6: their potential role in the response to vascular . Blood. 100: 4001-4010. doi: 10.1182/blood.V100.12.4001. 63. Botella LM, Sanz-Rodriguez F, Sanchez-Elsner T, Langa C, Ramirez JR, Vary C, Roughley PJ, 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. 64. Braak SJ, Witt CA de, Disch FJ, Overtoom TT, Westermann JJ. (2009). Percutaneous embolisation on hereditary haemorrhagic telangiectasia patients with severe epistaxis. Rhinology 47: 166-171. 65. Brunet G, Lesca G, Génin E, Dupuis-Girod S, Bideau A, Plauchu H. (2009). Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology. Population 64(2): 273- 292.ISBN:978-2-7332-3095-4. http://www.ined.fr/en/publications/population/bdd/publication/1482/ 66. Brusgaard K, Kjeldsen AD, Poulsen L, Moss H, Vase P, Rasmussen K, Kruse TA, Hørder M. (2004). Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. Clin. Genet. 66: 556- 561. doi: 10.1111/j.1399-0004.2004.00341.x. 67. Buonamico P, Suppressa P, Lenato GM, Pasculli G, D'Ovidio F, Memeo M, Scardapane A, Sabbà C (2008). Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: echo-color-Doppler vs multislice computed tomography study. J. Hepatol. 48: 811-820. doi: 10.1016/j.jhep.2007.12.022.

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68. 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. 69. 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. 70. 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. 71. Buscarini E, Gebel M, Ocran K, Manfredi G, Del Vecchio Blanco G, Stefanov R, Olivieri C, Danesino C, Zambelli A. (2008). Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. Ultrasound Med. Biol. 34: 718-725. 72. Buscarini E, Manfredi G, Zambelli A. (2008). Bevacizumab to treat complicated liver vascular malformations in hereditary hemorrhagic telangiectasia: a word of caution. Liver Transpl. 14: 1685-1686. 73. Buscarini E, Manfredi G, Zambelli A. (2008). Doppler ultrasonography for the diagnosis of liver vascular malformations in hereditary hemorrhagic telangiectasia. J. Hepatol. 49: 658-659. 74. 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. 75. Calhoun AR, Bollo RJ, Garber ST, McDonald J, Stevenson DA, Hung IH, Brockmeyer DL, Walker ML. (2012). Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. J. Neurosurg. Pediatr. 9: 654-659. doi: 10.3171/2012.2.PEDS11446. 76. Candelli M, Pompili M, Suppressa P, Lenato GM, Bosco G, Rapaccini GL, Gasbarrini A, Scardapane A, Sabbà C. (2012). Liver involvement in Hereditary Hemorrhagic Telangiectasia: can breath-test unmask impaired hepatic first-pass effect? Intern. Emerg. Med. 7: 323-329. doi: 10.1007/s11739-011-0531-9. 77. Carvalho RL, Jonker L, Goumans MJ, Larsson J, Bouwman P, Karlsson S, Dijke PT, Arthur HM, Mummery CL. (2004). Defective paracrine signalling by TGFbeta in yolk sac vasculature of endoglin mutant mice: a paradigm for hereditary haemorrhagic telangiectasia. Development 131: 6237-6247. 78. Chan NL, Bourdeau A, Vera S, Abdalla A, Gross M, Wong J, Cymerman U, Paterson AD, Mullen B, Letarte M. (2004). Umbilical and placental vessels

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from newborns with hereditary hemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. Placenta 25: 208-217. 79. Chavan A, Schumann-Binarsch S, Luthe L, Nickau B, Elsässer A, Kühnel T, Geisthoff U, Köhne H. (2013). Systemic therapy with bevacizumab in patients with hereditary hemorrhagic telangiectasia (HHT). Vasa. 42: 106-110. doi: 10.1024/0301-1526/a000253. 80. Chen Y, Hao Q, Kim H, Su H, Letarte M, Karumanchi SA, Lawton MT, Barbaro NM, Yang GY, Young WL. (2009). Soluble endoglin modulates aberrant cerebral vascular remodeling. Ann. Neurol. 66: 19-27. 81. Choi EJ, Kim YH, Choe SW, Tak YG, Garrido-Martin EM, Chang M, Lee YJ, Oh SP. (2013). Enhanced responses to angiogenic cues underlie the pathogenesis of hereditary hemorrhagic telangiectasia 2. PLoS One. 8(5):e63138. doi: 10.1371/journal.pone.0063138. 82. Choi EJ, Walker EJ, Shen F, Oh SP, Arthur HM, Young WL, Su H. (2012). Minimal homozygous endothelial deletion of Eng with VEGF stimulation is sufficient to cause cerebrovascular dysplasia in the adult mouse. Cerebrovasc. Dis. 33: 540- 547. doi: 10.1159/000337762. 83. 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. 84. 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. 85. Cohen J, Faughnan M, Letarte M, Vandezande K, Kennedy S, Krahn M. (2005). Cost Comparison of Genetic and Clinical Screening in Families with Hereditary Hemorrhagic Telangiectasia. Am. J. Med. Genet. A. 137: 153-160. 86. Conley BA, Koleva R, Smith JD, Kacer D, Zhang D, Bernabeu C, Vary CP. (2004). Endoglin controls cell migration and composition o focal adhesions: Function of the cytosolic domain. J. Biol. Chem. 279: 27440-27449. 87. Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. (2007). Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration 74: 361-378. doi:10.1159/000103205. 88. Cottin V, Gamondes D, Schuller A, Coudurier M, Dupuis-Girod S, Tronc F, Cordier JF. (2009). Near-fatal haemorrhage from pulmonary arteriovenous malformation in HHT with increased cardiac output. Eur. Respir. Rev. 18: 190-192. doi: 10.1183/09059180.00002009. 89. Cottin V, Khouatra C, Dupuis-Girod S, Cordier JF. (2012). Pulmonary Vascular Disorders in Hereditary Hemorrhagic Telangiectasia. In: Humbert M, Souza R, Simonneau G (eds): Pulmonary Vascular Disorders. Prog. Respir. Res. Basel, Karger, 2012, Chapter 27, vol 41: pp. 262-275. doi: 10.1159/000334383.

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90. 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. 91. Cottin V, Plauchu H, Dupuis-Girod S, Cordier JF. (2007). Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations. J. Vasc. Interv. Radiol. 18: 938-939. doi: 10.1016/j.jvir.2006.12.741. 92. Cowan PJ, Shinkel TA, Fisicaro N, Godwin JW, Bernabeu C, Almendro N, Rius C, Lonie AJ, Nottle MB, Wigley PL, Paizis K, Pearse MJ, d'Apice AJ. (2003). Targeting gene expression to in transgenic animals: a comparison of the human ICAM-2, PECAM-1 and endoglin promoters. Xenotransplantation 10: 223-231. 93. Craft CS, Romero D, Vary CPH, Bergan RC. (2007). Endoglin inhibits prostate cancer motility via activation of the ALK2-Smad1 pathway. Oncogene 26: 7240- 7250. 94. Craft CS, Xu L, Romero D, Vary CP, Bergan RC. (2008). Genistein induces phenotypic reversion of endoglin deficiency in human prostate cancer cells. Mol. Pharmacol. 73: 235-242. 95. Cruz-Gonzalez I, Pabón P, Rodríguez-Barbero A, Martín-Moreiras J, Pericacho M, Sánchez PL, Ramirez V, Sánchez-Ledesma M, Martín-Herrero F, Jiménez-Candil J, Maree AO, Sánchez-Rodríguez A, Martín-Luengo C, López-Novoa JM. (2008). Identification of serum endoglin as a novel prognostic marker after acute myocardial . J. Cell. Mol. Med. 12: 955-961. 96. Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, Plauchu H. (2007). Long-term follow-up in 12 children with Pulmonary Arteriovenous Malformations. J. Pediatr. 151: 299-306. 97. Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M. (2003). Characterization of several novel endoglin mutations associated with Hereditary Hemorrhagic Telangiectasia. Hum. Mutat. 21: 482-492. doi: 10.1002/humu.10203. 98. Dal-Bianco JP, Aikawa E, Bischoff J, Guerrero JL, Handschumacher MD, Sullivan S, Johnson B, Titus JS, Iwamoto Y, Wylie-Sears J, Levine RA, Carpentier A. (2009). Active adaptation of the tethered mitral valve: Insights into a compensatory mechanism for functional mitral regurgitation. Circulation 120: 334-342. 99. Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P. (2011). 5'UTR mutations of ENG cause Hereditary Hemorrhagic Telangiectasia. Orphanet J. Rare Dis. 6(1):85. doi: 10.1186/1750-1172-6-85. 100. David L, Mallet C, Keramidas M, Lamandé N, Gasc JM, Dupuis-Girod S, Plauchu H, Feige JJ, Bailly S. (2008). Bone morphogenetic -9 is a circulating vascular quiescence factor. Circ. Res. 102: 914-922. doi: 10.1161/CIRCRESAHA.107.165530.

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101. de Gussem EM, Snijder RJ, Disch FJ, Zanen P, Westermann CJ, Mager JJ. (2009). The effect of N-acetylcysteine on epistaxis and quality of life in patients with HHT: a pilot study. Rhinology 47: 85-88. 102. Decullier E, Dupuis-Girod S, Plauchu H, Perret J, Chapuis F. (2012). How to improve specific databases for clinical data in rare diseases? The example of hereditary haemorrhagic telangiectasia. J. Eval. Clin. Pract. 18: 523-527. doi: 10.1111/j.1365-2753.2010.01627.x. 103. del Rey M, Pericacho M, Velasco S, Lumbreras E, Lopez-Novoa JM, Hernández- Rivas JM, Rodríguez-Barbero A. (2013). Alteration in endoglin-related angiogenesis in refractory cytopenia with multilineage dysplasia. PLoS One 8(1):e53624. doi: 10.1371/journal.pone.0053624. 104. 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. 105. 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. 106. Driesche S van der, Mummery CL, Westermann CJJ. (2003). Hereditary Hemorrhagic Telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc. Res. 58: 20-31. 107. Dupuis-Girod S, Bailly S, Plauchu H. (2010). Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J. Thromb. Haemost. 8: 1447-1456. doi: 10.1111/j.1538-7836.2010.03860.x. 108. Dupuis-Girod S, Chesnais AL, Ginon I, Dumortier J, Saurin JC, Finet G, Decullier E, Marion D, Plauchu H, Boillot O. (2010). Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic : a single-center study. Liver Transpl. 16: 340-347. doi: 10.1002/lt.21990. 109. Dupuis-Girod S, Ginon I, Saurin JC, Marion D, Guillot E, Decullier E, Roux A, Carette MF, Gilbert-Dussardier B, Hatron PY, Lacombe P, Lorcerie B, Rivière S, Corre R, Giraud S, Bailly S, Paintaud G, Ternant D, Valette PJ, Plauchu H, Faure F. (2012). Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA 307: 948- 955. doi: 10.1001/jama.2012.250. 110. Dupuis-Girod S, Giraud S, Decullier E, Lesca G, Cottin V, Faure F, Merrot O, Saurin JC, Cordier JF, Plauchu H. (2007). Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. Clin. Infect. Dis. 44: 841-845. doi: 10.1086/511645. 111. Dupuis-Girod S. (2013). Anti-VEGF: A new therapeutic option in hereditary hemorrhagic telangiectasia. Presse Med. 42: 385-387. doi: 10.1016/j.lpm.2012.11.009.

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112. 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. 113. Easey AJ, Wallace GMF, Hughes JMB, Jackson JE, Taylor WJ, Shovlin CL. (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. 114. Ecker D, Geisthoff UW, Juchems M, Schneider G, Ludolph AC, Kassubek J, Huber R. (2005). Hereditary hemorrhagic telangiectasia. A rare treatable cause of stroke. Hereditäre hämorrhagische Teleangiektasie: Seltene Insultursache mit Behandlungsoption. Nervenarzt 76: 980-983. German. 115. Edwards CP, Shehata N, Faughnan ME. (2012). Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation. Ann. Hematol. 91: 1959-1968. doi: 10.1007/s00277-012-1553-8. 116. Eleno N, Düwel A, Muñoz A, Paz-Bouza J, López-Novoa JM, Lozano F. (2010). Endoglin as a marker in cervical paragangliomas. Head Neck. 32: 737-743. 117. Elmasri H, Karaaslan C, Teper Y, Ghelfi E, Weng MQ, Ince T, Kozakewich H, Bischoff J, Cataltepe S. (2009). Fatty acid binding protein-4 is a target of VEGF and a regulator of cell proliferation in endothelial cells. FASEB J. 23: 3865-3873. 118. Faughnan ME, Granton JT, Young LH. (2009). The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur. Resp. J. 33: 1186- 1194. 119. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. (2011). International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. J. Med. Genet. 48: 73-87. 120. Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, Maclusky I, Hyland RH, Pugash RA, Chait P, Henderson KJ, White RI Jr. (2004). Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy. J. Pediatr. 145: 826-831. doi:10.1016/j.jpeds.2004.08.046. 121. 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. 122. 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

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(HHT): regulation of ALK-1/endoglin pathway in endothelial cells. Thromb. Haemost. 97: 254-262. 123. 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. 124. Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Hebbel RP, Nguyen J, Bernabeu C, Botella LM. (2005). Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions. Cardiovasc. Res. 68: 235-248. 125. 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. 126. Fiorella ML, Ross DG, Henderson KJ, White RI. (2005). Outcome of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia. Laryngoscope 115: 301-305. 127. Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM. (2008). Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. BMC Med. Genet. 9: 75 (1-8). 128. Freund C, Davis RP, Gkatzis K, Ward-van Oostwaard D, Mummery CL. (2010). The first reported generation of human induced pluripotent stem cells (iPS cells) and iPS cell-derived cardiomyocytes in the Netherlands. Neth. Heart J. 18: 51-54. 129. Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. (2010). Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am. J. Med. Genet. A. 152A: 333-339. 130. 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. 131. Gallione, CJ, Repetto, GM, Legius E, Rustgi A, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJJ, Marchuk DA. (2004). A combined syndrome of juvenile polyposis and Hereditary Haemorrhagic Telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363: 852-859. 132. Gallitelli M, Guastamacchia E, Resta F, Guanti G, Sabba C. (2006). Pulmonary Arteriovenous Malformations, Hereditary Hemorrhagic Telangiectasia, and Brain Abscess. Respiration 73: 553-557.

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133. 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. 134. Gallitelli M, Pasculli G, Sabba C. (2006). Emergencies in hereditary hemorrhagic teleangiectasia. QJM. 99: 15-22. 135. Garrido-Martin EM, Blanco FJ, Fernandez-L A, Langa C, Vary CP, Lee UE, Friedman SL, Botella LM, Bernabeu C. (2010). Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1. BMC Mol. Biol. 11: 51. doi: 10.1186/1471-2199-11-51. 136. Garrido-Martín EM, Blanco FJ, Roqué M, Novensá L, Tarocchi M, Lee UE, Suzuki T, Friedman SL, Botella LM, Bernabéu C. (2013). Vascular Injury Triggers Kruppel- Like Factor 6 (KLF6) Mobilization and Cooperation with Sp1 to Promote Endothelial Activation through Upregulation of the Activin Receptor-Like Kinase 1 (ALK1) Gene. Circ. Res. 112: 113-127. doi: 10.1161/CIRCRESAHA.112.275586. 137. Gazzaniga P, Buscarini E, Leandro G, Reduzzi L, Grosso M, Pongiglione G, Pedrinazzi C, Lanzarini L, Portugalli V, Blotta P, Forner P, Boccardi E, Pagella F, Manfredi G, Olivieri C, Zambelli A, Danesino C, Inama G. (2009). Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter? Eur. J. Echocardiogr. 10: 513-518. 138. 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. 139. Geisthoff UW, Fiorella ML, Fiorella R. (2006). Epistaxis in hereditary hemorrhagic telangiectasia (HHT). Curr. Pharm. Des. 12: 2137-2142. 140. Geisthoff UW, Heckmann K, D’Amelio R, Grünewald S, Knöbber D, Falkai P, König J. (2007). Health-related quality of life in hereditary hemorrhagic telangiectasia. Otolaryngol. Head Neck Surg. 136: 726-733. 141. Geisthoff UW, Hille K, Ruprecht K, Verse T, Plinkert PK. (2007). Prevalence of ocular manifestations in hereditary hemorrhagic telangiectasia. Graefes Arch. Clin. Exp. Ophthalmol. 245: 1141-1144. 142. Geisthoff UW, Koester M, Fischinger J, Schneider G. (2004). Osler’s disease: Search for the time bomb. Morbus Osler: Die Suche nach der tickenden Zeitbombe. Hautnah Dermatologie 2004, 8888-8890. German. 143. Geisthoff UW, Koester M, Fischinger J, Schneider G. (2004). Rendu-Osler-Weber syndrome- a complex systemic disease. Morbus Osler- Eine komplexe systemische Erkrankung. MMW Fortschr. Med. 146: 813-815. German. 144. Geisthoff UW, Maune S, Schneider G: Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) as an example of a rare disease relevant for oto- rhino-laryngology. Hereditäre hämorrhagische Teleangiektasie (Morbus Rendu- Osler-Weber) als Beispiel einer seltenen Erkrankung des HNO-Fachgebietes.

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Laryngo Rhino Otol with CME questions. In press (available at www.morbus- osler.de). German. 145. Geisthoff UW, Schneider G, Fischinger J, Plinkert PK. (2002). Hereditary hemorrhagic telangiectasia (Osler's disease). An interdisciplinary challenge. Hereditäre hämorrhagische Teleangiektasie (Morbus Osler). Eine interdisziplinäre Herausforderung. HNO 50:114-128. Review in German. 146. Geisthoff UW, Sittel C, Plinkert PK. (2005). Contact endoscopic findings in HHT. Head Neck 28: 56-63. 147. Geisthoff UW. (2000). Self-help groups and physician: Is the collaboration a win- win situation? - Selbsthilfe und Arzt: Zusammenarbeit als gegenseitiger Nutzen? In: Deutsche Arbeitsgemeinschaft Selbsthilfegruppen e.V.: Selbsthilfegruppenjahrbuch 2000. Focus Verlag, Gießen, 2000, pp. 87-90. German. 148. Geisthoff UW. (2006). Hereditary hemorrhagic telangiectasia- Osler’s disease. Hereditäre hämorrhagische Teleangiektasie- Morbus Osler. HNO aktuell 14: 339- 342 + 347 (CME questions). German. 149. Geisthoff UW. (2008). Rezidivierende Epistaxis. MMW Fortschr. Med. 150: 43. German. 150. Geisthoff UW. (2009). Hereditary hemorrhagic telangiectasia. In: Florian Lang (Editor): Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin Heidelberg New York. ISBN 978-3-540-67136-7. 151. Gent MWF van, Post MC, Luermans JGLM, Snijder RJ, Westermann CJJ, Plokker HWM, Overtomm TThC, Mager JJ. (2009). Screening for pulmonary arteriovenous malformations using transthoracic contrast echography: a prospective study. Eur. Respir. J. 33: 85-91. 152. Gincul R, Lesca G, Gelas-Dore B, Rollin N, Barthelet M, Dupuis-Girod S, Pilleul F, Giraud S, Plauchu H, Saurin JC. (2008). Evaluation of previously non screened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology. 48: 1570-1576. doi: 10.1002/hep.22514. 153. Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, Dupuis-Girod S. (2013). Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences. Eur. J. Intern. Med. 24:e35-39. doi: 10.1016/j.ejim.2012.12.013. 154. Giordano P, Lenato GM, Pierucci P, Suppressa P, Altomare M, Del Vecchio GC, Di Bitonto G, De Mattia D, Guanti G, Sabbà C. (2009). Effect of VEGF on phenotypic severity in children with Hereditary Hemorrhagic Telangiectasia. J. Pediatr. Hematol. Oncol. 31: 577-582. 155. Giordano P, Nigro A, Lenato GM, Guanti G, Suppressa P, Lastella P, DE Mattia D, Sabbà C (2006). Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician. J. Thromb. Haemost. 4: 1237-1245. doi: 10.1111/j.1538-7836.2006.01934.x.

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156. Gossage JR. (2010). Role of contrast echocardiography in screening for pulmonary AVM in patients with HHT. Chest 138: 769-771. 157. Govani FS, Shovlin CL. (2009). Hereditary haemorrhagic telangiectasia. A clinical and scientific review. Eur. J. Hum. Genet. 17: 860-871. doi: 10.1038/ejhg.2009.35. 158. Govani FS, Shovlin CL. (2010). Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes. J. Angiogenesis Res. 2:15. doi: 10.1186/2040-2384-2-15. 159. Greenberger S, Adini I, Boscolo E, Mulliken JB, Bischoff J. (2010). Targeting NF-κB in infantile hemangioma-derived stem cells reduces VEGF-A expression. Angiogenesis 13: 327-335. 160. Greenberger S, Boscolo E, Adini I, Mulliken JB, Bischoff J. (2010). Corticosteroid suppression of VEGF-A in infantile hemangioma-derived stem cells. N. Engl. J. Med. 362: 1005-1013. 161. Greenberger S, Yuan S, Walsh LA, Boscolo E, Kang KT, Matthews B, Mulliken JB, Bischoff J. (2011). Rapamycin suppresses self-renewal and vasculogenic potential of stem cells isolated from infantile hemangioma. J. Invest. Dermatol. 131: 2467- 2476. doi: 10.1038/jid.2011.300. 162. Grève E, Moussata D, Gaudin JL, Lapalus MG, Giraud S, Dupuis-Girod S, Calender A, Plauchu H, Saurin JC. (2010). High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. Gastrointest. Endosc. 71: 760-767. doi: 10.1016/j.gie.2009.11.004. 163. Grosse SD, Boulet SL, Grant AM, Hulihan MM, Faughnan ME. (2013). The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia. Genet Med. 2013 May 23. doi: 10.1038/gim.2013.66. [Epub ahead of print]. 164. Grosso M, Groppo Marchisio F, Testa F, Gallarato G, Balderi A, Lingua G, Mondino I, Pedrazzini F, Danesino C, Buscarini E. (2008). Pulmonary arteriovenous malformations: percutaneous treatment preserving parenchyma in high-flow fistulae. Radiol Med. 113: 395-413. 165. Guo B, Rooney P, Slevin M, Li C, Parameshwar S, Liu D, Kumar P, Bernabeu C, Kumar S. (2004). Overexpression of CD105 in rat myoblasts: role of CD105 in cell attachment, spreading and survival. Int. J. Oncol. 25: 285-291. 166. Guo B, Slevin M, Li C, Parameshwar S, Liu D, Kumar P, Bernabeu C, Kumar S. (2004). CD105 inhibits transforming growth factor-beta-Smad3 signalling. Anticancer Res. 24: 1337-1345. 167. Gupta S, Bayoumi AM, Faughnan ME. (2011). Rare lung disease research: strategies for improving identification and recruitment of research participants. Chest. 140: 1123-1129. doi: 10.1378/chest.11-1094.

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168. Gupta S, Faughnan ME, Bayoumi AM. (2009). Pulmonary Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia: A Decision Analysis. Chest 136: 849-858. 169. Gupta S, Faughnan ME, Tomlinson GA, Bayoumi AM. (2011). A framework for applying unfamiliar trial designs in studies of rare diseases. J. Clin. Epidemiol. 64: 1085-1094. doi: 10.1016/j.jclinepi.2010.12.019. 170. Gupta S, Zamel N, Faughnan ME. (2009). Alveolar exhaled nitric oxide is elevated in hereditary hemorrhagic telangiectasia. Lung 187: 43-49. 171. 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. 172. Guttmacher A, Marchuck D, Trerotola S, Pyeritz RE. (2013) Hereditary hemorrhagic telangiectasia. In: Rimoin DL, Pyeritz RE, Korf BR (eds). Emery and Rimoin's Principles and Practice of Medical Genetics (6th Ed). Academic Press. ISBN: 978-0-12-383834-6. 173. Hao Q, Su H, Marchuk DA, Rola R, Wang Y, Liu W, Young WL, Yang GY. (2008). Increased tissue promotes dysplasia in the ALK1-deficient mouse brain following VEGF stimulation. Am. J. Physiol. Heart Circ. Physiol. 295: H2250-H2256. 174. Hart JL, Aldin Z, Braude P, Shovlin CL, Jackson J. (2010). Embolization of pulmonary arteriovenous malformations using the Amplatzer vascular plug: successful treatment of 69 consecutive patients. Eur. Radiol. 20: 2663-2670. 175. Hashimoto M, Tate E, Nishii T, Watarai J, Shioya T, White RI. (2003). Angiography of Hepatic Vascular Malformations Associated with Hereditary Hemorrhagic Telangiectasia. Cardiovasc. Intervent. Radiol. 26: 177-180. 176. Hashimoto T, Lawton MT, Wen G, Yang GY, Chaly T, Stewart CL, Dressman HK, Barbaro NM, Marchuk DA, Young WL. (2004). Gene Microarray Analysis of Human Brain Arteriovenous Malformations. Neurosurgery 54: 410-423. 177. Henry-Berger J, Mouzat K, Baron S, Bernabeu C, Marceau G, Saru JP, Sapin V, Lobaccaro JM, Caira F. (2008). Endoglin (CD105) expression is regulated by the liver X receptor alpha (NR1H3) in human trophoblast cell line JAR. Biol. Reprod. 78: 968-975. 178. Hong K-H, Seki T, Oh SP. (2007). Activin receptor-like kinase 1 (ALK1) is essential for placental vascular development in mice. Lab. Invest. 87: 670-679. 179. Hsu YH, Moya ML, Abiri P, Hughes CC, George SC, Lee AP. (2013). Full range physiological mass transport control in 3D tissue cultures. Lab Chip. 13: 81-89. doi: 10.1039/c2lc40787f. 180. Hsu YH, Moya ML, Hughes CC, George SC, Lee AP. (2013). A microfluidic platform for generating large-scale nearly identical human microphysiological

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vascularized tissue arrays. Lab. Chip. 2013 May 30. [Epub ahead of print]. PMID: 23723013 181. Ianora AA, Memeo M, Sabba C, Cirulli A, Rotondo A, Angelelli G. (2004). Hereditary Hemorrhagic Telangiectasia: Multi-Detector Row Helical CT Assessment of Hepatic Involvement. Radiology 230: 250-259. 182. 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. 183. Inouye P, Marcon N, Pugash RA, Hyland RH, Faughnan ME. (2003). Embolization of a Duodenal Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia. Can. J. Gastroenterol. 17: 661-665. 184. Jang HG, Park I-S, Yang J-H, Bischoff J, Lee YM. (2010). Differential functions of genes regulated by VEGF-NFATc1 signaling pathway in the migration of pulmonary valve endothelial cells. FEBS Lett. 584: 141-146. 185. Jaskolka J, Wu L, Chan RP, Faughnan ME. (2004). Imaging of Hereditary Hemorrhagic Telangiectasia. AJR Am. J. Roentgenol. 183: 307-314. 186. Jerkic M, Peter M, Ardelean D, Fine M, Konerding M, Letarte M. (2010). Dextran sulfate sodium leads to chronic colitis and pathological angiogenesis in Endoglin heterozygous mice. Inflamm. Bowel. Dis. 16: 1859-1870. 187. Jerkic M, Rivas-Elena JV, Prieto M, Carron R, Sanz-Rodriguez F, Perez- Barriocanal F, Rodriguez-Barbero A, Bernabeu C, Lopez-Novoa JM (2004). Endoglin regulates nitric oxide-dependent vasodilatation. FASEB J. 18: 609-611. 188. 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. 189. 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. 190. Jerkic M, Sotov V, Letarte M. (2012). contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia. Oxid. Med. Cell Longev. 2012: 686972. doi: 10.1155/2012/686972. 191. Jinnin M, Medici D, Park L, Limaye N, Liu Y, Boscolo E, Bischoff J, Vikkula M, Boye E, Olsen BR. (2008). Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. Nat. Med. 14: 1236-1246. 192. Jørgensen G, Lange B, Wanscher JH, Kjeldsen AD. (2011). Efficiency of laser treatment in patients with hereditary hemorrhagic telangiectasia. Eur. Arch. Otorhinolaryngol. 268: 1765-1770. doi: 10.1007/s00405-011-1677-9.

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193. Kaja S, Hilgenberg JD, Everett E, Olitsky SE, Gossage J, Koulen P. (2011). Effects of dilution and prolonged storage with preservative in a polyethylene container on Bevacizumab (AvastinTM) for topical delivery as a nasal spray in anti-hereditary hemorrhagic telangiectasia and related therapies. Hum. Antibodies 20: 95-101. doi: 10.3233/HAB-2011-0244. 194. Kang KT, Allen P, Bischoff J. (2011). Bioengineered human vascular networks transplanted into secondary mice reconnect with the host vasculature and re- establish perfusion. Blood. 118: 6718-6721. doi: 10.1182/blood-2011-08-375188. 195. Kapur NK, Morine KJ, Letarte M. (2013). Endoglin: a critical mediator of cardiovascular health. Vasc. Health Risk Manag. 9: 195-206. doi: 10.2147/VHRM.S29144. 196. Kapur NK, Wilson S, Yunis AA, Qiao X, Mackey E, Paruchuri V, Baker C, Aronovitz MJ, Karumanchi SA, Letarte M, Kass DA, Mendelsohn ME, Karas RH. (2012). Reduced endoglin activity limits cardiac fibrosis and improves survival in heart failure. Circulation 125: 2728-2738. doi: 10.1161/CIRCULATIONAHA.111.080002. 197. Karabegovic, A., Shinawi M., Cymerman U., 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. 198. Kaushik S, Gossage JR (2012). Pulmonary arteriovenous malformations. In Pediatric Cardiovascular Medicine, Second Edition (eds. JH Moller and JIE Hoffman), Wiley-Blackwell, Oxford, UK. 2012, chapter 46, pp. 660-666. Online ISBN: 9781444398786. doi: 10.1002/9781444398786.ch46. 199. Khan ZA, Boscolo E, Picard A, Psutka S, Melero-Martin JM, Bartch TC, Mulliken JB, Bischoff J. (2008). Multipotential stem cells recapitulate human infantile hemangioma in immunodeficient mice. J. Clin. Invest. 118: 2592-2599. 200. 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. 201. Kim H, Marchuk DA, Pawlikowska L, Chen Y, Su H, Yang GY, Young WL. (2008). Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations. Acta Neurochir. Suppl. 105: 199-206. 202. Kim JH, Peacock MR, George SC, Hughes CC. (2012). BMP9 induces EphrinB2 expression in endothelial cells through an Alk1-BMPRII/ActRII-ID1/ID3-dependent pathway: implications for hereditary hemorrhagic telangiectasia type II. Angiogenesis. 15: 497-509. doi: 10.1007/s10456-012-9277-x. 203. Kjeldsen AD, Andersen PE, Oxhøj H, Vase P. (1998). Percutaneous transluminal embolization of pulmonary arteriovenous malformations. Ugeskr. Laeger. 160: 1465-1469. Danish. PMID: 9520614. 204. Kjeldsen AD, Andersen PE, Oxhøj H. (2000). Picture of the month. Ugeskr. Laeger. 162(25):3618. Danish. PMID: 11016290.

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205. Kjeldsen AD, Andersen PE, Tørring PM. (2011). Diagnosis and treatment of morbus Osler. Ugeskr. Laeger. 173: 490-495. Article in Danish. PMID: 21320413. 206. Kjeldsen AD, Brusgaard K, Poulsen L, Kruse T, Rasmussen K, Green A, Vase P. (2001). Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am. J. Med. Genet. 98: 298-302. doi: 10.1002/1096-8628(20010201)98:4<298::AID-AJMG1093>3.0.CO;2-K 207. Kjeldsen AD, Kjeldsen J. (2000). Concerning the original article of C. Weik and L. Greiner, 'The liver in hereditary hemorrhagic telangiectasia (Weber-Renduosler disease)'. Scand. J. Gastroenterol. 35(7):784. PMID: 10972186. 208. Kjeldsen AD, Kjeldsen J. (2000). Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am. J. Gastroenterol. 95: 415-418. doi:10.1111/j.1572-0241.2000.01792.x. 209. Kjeldsen AD, Moller TR, Brusgaard K, Vase P, Andersen PE. (2005). Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia. J. Intern. Med. 258: 349-355. doi: 10.1111/j.1365- 2796.2005.01555.x. 210. Kjeldsen AD, Oxhøj H, Andersen PE, Elle B, Jacobsen JP, Vase P. (1999). Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest. 116: 432-439. PMID: 10453873. 211. Kjeldsen AD, Oxhoj H, Andersen PE, Green A, Vase P. (2000). Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J. Intern. Med. 248: 255-262. PMID: 10971793. 212. Kjeldsen AD, Vase P, Green A. (1998). Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J. Intern. Med. 245: 31-39. doi: 10.1046/j.1365-2796.1999.00398.x. 213. Kjeldsen AD, Vase P, Green A. (2000). Hereditary hemorrhagic telangiectasia. A population-based study on prevalence and mortality among Danish HHT patients. Ugeskr. Laeger. 162: 3597-3601. Danish. PMID: 11016284. 214. Kjeldsen AD, Vase P, Oxhøj H. (1996). Hereditary hemorrhagic telangiectasia. N. Engl. J. Med. 334: 331-332. PMID: 8532039. 215. Kjeldsen AD; Dansk Rhinologisk Selskab. (2007). Treatment of hereditary hemorrhagic telangiectasia. The Danish Society of Rhinology. Ugeskr. Laeger. 169(12):1132. Danish. PMID: 17394843. 216. Koleva RI, Conley, A, Romero D, Riley KS, Marto JA, Lux A, Vary, CPH. (2006). Endoglin structure and function: Determinants of endoglin phosphorylation by TGFβ receptors. J. Biol. Chem. 281: 25110-25123.

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217. 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. 218. 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. 219. Lakshman M, Huang X, Ananthanarayanan V, Jovanovic B, Liu Y, Craft CS, Romero D, Vary CP, Bergan RC. (2011). Endoglin suppresses human prostate cancer metastasis. Clin. Exp. Metastasis. 28: 39-53. 220. Lastella P, Sabba C, Lenato G, Resta N, Lattanzi W, Gallitelli M, Cirulli A, Guanti G. (2003). Endoglin gene mutations and polymorphisms in Italian patients with Hereditary Haemorrhagic Telangiectasia. Clin. Genet. 63: 536-540. 221. Latino GA, Al-Saleh S, Alharbi N, Edwards C, Faughnan ME, Ratjen F. (2013). Prevalence of Pulmonary Arteriovenous Malformations in Children versus Adults with Hereditary Hemorrhagic Telangiectasia. J. Pediatr. 2013 Mar 19. pii: S0022- 3476(13)00186-8. doi: 10.1016/j.jpeds.2013.02.021. 222. Leblanc GG, Golanov E, Awad IA, Young WL; Biology of Vascular Malformations of the Brain NINDS Workshop Collaborators (including M. Letarte). (2009). Biology of vascular malformations of the Brain. Stroke. 40: e694-702. 223. Lebrin F, Srun S, Raymond K, Martin S, van den Brink S, Freitas C, Breant C, Mathivet T, Larrivee B, Thomas JL, Arthur HM, Westermann CJ, Disch F, Mager JJ, Snijder RJ, Eichmann A, Mummery CL. (2010). Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat. Med. 16: 420-428. 224. 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. 225. Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G (2006). DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Hum. Mutat. 27: 213-214. doi: 10.1002/humu.9400. 226. Lenato GM, Suppressa P, Giordano P, Guanti G, Guastamacchia E, Triggiani V, Amati L, Resta F, Covelli V, Jirillo E, Sabbà C (2007). Hereditary haemorrhagic telangiectasia: a rare disease as a model for the study of human . Curr. Pharm. Des. 13: 3656-3664. doi: 10.2174/138161207783018572. 227. Lerut J, Orlando G, Adam R, Sabbà C, Pfitzmann R, Klempnauer J, Belghiti J, Pirenne J, Thevenot T, Hillert C, Brown CM, Gonze D, Karam V, Boillot O; European Liver Transplant Association (2006). Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry. Ann. Surg. 244:854-862;discussion 862-864. doi: 10.1097/01.sla.0000247258.35406.a4.

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228. Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H; French- Italian HHT Network. (2008). Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur. J. Hum. Genet. 16: 742-79. doi: 10.1038/ejhg.2008.3. 229. 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. 230. 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. 231. 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. 232. 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. 233. Letarte M, Shovlin C. (2013). Hereditary Hemorrhagic Telangiectasia: In Hemostasis and . Basic Principles and Clinical Practice. Sixth Edition. Editors: VJ Marder, WC Aird, JS Bennett, S Schulman, GC White II. Publishers: Lippincott Williams & Wilkins. Chapter 70, pp 855-864. ISBN-13: 978-1608319060. 234. Letarte M, Voulgaraki D, Hartherley D, Foster-Cuevas M, Saunders NJ, Barclay N. (2005). Analysis of leukocyte membrane protein interactions using protein microarrays. BMC Biochem. 6: 2. 235. Letourneau-Guillon L, Faughnan ME, Soulez G, Giroux MF, Oliva VL, Boucher LM, Dubois J, Prabhudesai V, Therasse E. (2010). Embolization of pulmonary arteriovenous malformations with Amplatzer vascular plugs: safety and effectiveness. J. Vasc. Interv. Radiol. 21: 649-656. 236. 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. 237. Letteboer TGW, Mager JJ, Snijder RJ, Lindhout D, Ploos van Amstel HK, Zanen P, Westermann CJJ. (2008). Genotype-genotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia. Am. J. Med. Genet. 146A: 2733-2739.

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238. Letteboer TGW, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FAM, Westermann CJJ, Ploos van Amstel JK. (2005). Hereditary Hemorrhagic Telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum. Genet. 116: 8-16. 239. Levine CG, Ross DA, Henderson KJ, Leder SB, White RI Jr. (2008). Long-term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia. Otolaryngol. Head Neck Surg. 138: 721-724. 240. Li C, Guo B, Ding S, Rius C, Langa C, Kumar P, Bernabeu C, 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. 241. Li C, Issa R, Kumar P, Hampson IN, Lopez-Novoa JM, Bernabeu C, Kumar S. (2003). CD105 prevents in hypoxic endothelial cells. J. Cell. Sci. 116: 2677-2685. 242. Li W, Niu B, Henderson K, Northrup V, Pollak JS, Trow T, Fahey J, White RI Jr. (2011). Reproducibility of Saturation Monitoring During Six-Minute Walk Test and Exercise Stress Test in Patients with Pulmonary Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia. Pediatr. Cardiol. 32: 590-594. doi: 10.1007/s00246-011-9917-8. 243. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald- McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. (2008). Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet. Med. 10: 469-494. 244. Liu C, Billadeau DD, Abdelhakim H, Leof E, Kaibuchi K, Bernabeu C, Bloom GS, Yang L, Boardman L, Shah VH, Kang N. (2013). IQGAP1 suppresses TβRII- mediated myofibroblastic activation and metastatic growth in liver. J. Clin. Invest. 123: 1138-1156. doi: 10.1172/JCI63836. 245. 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. doi: org/10.1016/j.jmb.2006.10.015. 246. Longacre AV, Gross CP, Gallitelli M, Henderson KJ, White RI, Proctor DD. (2003). Diagnosis and Management of Gastrointestinal Bleeding in patients with Hereditary Hemorrhagic Telangiectasia. Am. J. Gastroenterol. 98: 59-65. 247. López-Hernández FJ, López-Novoa JM. (2012). Role of TGF-β in chronic kidney disease: an integration of tubular, glomerular and vascular effects. Cell Tissue Res. 347: 141-154. doi: 10.1007/s00441-011-1275-6. 248. Lopez-Novoa JM, Bernabeu C. (2010). The physiological role of endoglin in the cardiovascular system. Am. J. Physiol. Heart Circ. Physiol. 299: H959-974. doi: 10.1152/ajpheart.01251.2009.

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249. Lopez-Novoa JM, Bernabeu C. (2012) ENG (endoglin). Atlas of Genetics and Cytogenetics in Oncology and Haematology. January 2012. http://AtlasGeneticsOncology.org/Genes/ENGID40452ch9q34.html 250. López-Novoa JM. (2007). Soluble endoglin is an accurate predictor and a pathogenic molecule in pre-eclampsia. Nephrol. Dial. Transplant. 22: 712-714. 251. Lopez-Novoa JM. (2012). Angiogenic stimuli and endoglin absence induces brain arteriovenous malformations: are local endoglin deletion and angiogenesis the 'second hit' that is necessary for arteriovenous malformations formation in HHT-1? Cerebrovasc. Dis. 33: 548. doi: 10.1159/000338772. 252. Lu L, Bischoff J, Mulliken JB, Bielenberg DR, Fishman SJ, Greene AK. (2011). Increased endothelial progenitor cells and vasculogenic factors in higher-staged arteriovenous malformations. Plast. Reconstr. Surg. 128: 260e-269e. doi: 10.1097/PRS.0b013e3182268afd. 253. Luermans JG, van Gent MW, Westermann CJ, Plokker HW, Post MC, Budts WI. (2010). Strong association between right-to-left shunt and migraine. Neth. Heart J. 18: 274-276. 254. Magger JJ, Ovetoom TT, Blauve J, Lammers JW, Westermann CJ. (2004). Embolotherapy of pulmonary arteriovenous malformations: Long term results in 112 patients. J. Vasc. Interv. Radiology 15: 451-456. 255. Mahmoud M, Allinson KR, Zhai Z, Oakenfull R, Ghandi P, Adams RH, Fruttiger M, Arthur HM. (2010). Pathogenesis of arteriovenous malformations in the absence of endoglin. Circ. Res. 106:1425-1433. doi: 10.1161/CIRCRESAHA.109.211037. 256. Mahmoud M, Borthwick GM, Hislop AA, Arthur HM. (2009). Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH. Lab. Invest. 89: 15- 25. doi: 10.1038/labinvest.2008.112. 257. Mahmoud M, Upton PD, Arthur HM. (2011). Angiogenesis regulation by TGFβ signalling: clues from an inherited vascular disease. Biochem. Soc. Trans. 39: 1659-1666. doi: 10.1042/BST20110664. 258. Mancini ML, Terzic A, Conley BA, Oxburgh LH, Nicola T, Vary CP. (2009). Endoglin plays distinct roles in vascular smooth muscle cell recruitment and regulation of arteriovenous identity during angiogenesis. Dev. Dyn. 238: 2479- 2493. 259. Mancini ML, Verdi JM, Conley BA, Nicola T, Spicer DB, Oxburgh LH, Vary CPH. (2007). Endoglin is required for myogenic differentiation potential of neural crest stem cells. Dev. Biol. 308: 520-533. 260. Manson D, Traubici J, Mei-Zahav M, MacLuskey I, John P, Stephens D. (2007). Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia. Pediatr. Radiol. 37: 264-268. PMID: 17205284.

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261. Marziniak M, Jung A, Guralnik V, Evers S, Prudlo J, Geisthoff U. (2009). An association of migraine with hereditary haemorrhagic telangiectasia independently of pulmonary right-to-left shunts. Cephalalgia 29: 76-81. 262. Mathis S, Dupuis-Girod S, Plauchu H, Giroud M, Barroso B, Ly KH, Ingrand P, Gilbert B, Godenèche G, Neau JP. (2012). Cerebral abscesses in hereditary haemorrhagic telangiectasia: a clinical and microbiological evaluation. Clin. Neurol. Neurosurg. 114: 235-240. doi: 10.1016/j.clineuro.2011.10.036. 263. McDonald J, Bayrak-Toydemir P, Pyeritz RE. (2011). Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management and pathogenesis. Genet. Med. 13: 607-616. doi: 10.1097/GIM.0b013e3182136d32. 264. McDonald J, Bayrak-Toydemir P. (2005). Hereditary Hemorrhagic Telangiectasia. Haematologica 90: 728-732. 265. McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. (2011). Molecular diagnosis in hereditary hemorrhagic telangiectasia: finding in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin. Genet. 79: 335-344. 266. McDonald J, Pyeritz RE (updated May 2009). Hereditary hemorrhagic telangiectasia, in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997- 2009. Available at http://www.genetests.org. 267. 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. 268. Mei-Zahav M. (2003). Osler-Weber-Rendu--a life-threatening disease in adults and children. Harefuah. 142: 852-856. Review. Hebrew. 269. Melero-Martin JM and Bischoff J. (2008). Chapter 13. An in vivo experimental model for postnatal vasculogenesis. Methods Enzymol. 445: 303-329. 270. Melero-Martin JM, De Obaldia ME, Allen P, Dudley AC, Klagsbrun M, Bischoff J. (2010). Host myeloid cells are necessary for creating bioengineered human vascular networks in vivo. Tissue Eng. Part A. 16: 2457-2466. doi: 10.1089/ten.TEA.2010.0024. 271. Melero-Martin JM, De Obaldia ME, Kang S-Y, Khan ZA, Yuan L, Oettgen P, Bischoff J. (2008). Engineering vascular networks in vivo with human postnatal progenitor cells isolated from blood and bone marrow. Circ. Res. 103: 194-202. 272. 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. 273. 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.

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274. 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. 275. 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. 276. Messner D, Bernhardt BA, Pyeritz RE. (2010). Comment on the Impact of gene patents and licensing practices on access to genetic testing: Lessons from hereditary hemorrhagic telangiectasia. Genet. Med. 12: 746-748. 277. Milic A, Chan RP, Cohen JH, Faughnan ME. (2005). Reperfusion of Pulmonary AVMs Following Embolotherapy. J. Vasc. Inter. Radiol. 16: 1675-1683. 278. Milton I, Ouyang D, Allen CJ, Yanasak NE, Gossage JR, Alleyne CH, Seki T. (2012). Age-dependent lethality in novel transgenic mouse models of central nervous system arteriovenous malformations. Stroke 43: 1432-1435. doi: 10.1161/STROKEAHA.111.647024. 279. Mohler ER III, Doriswamy V, Sibley A, Bernhardt BA, Pyeritz RE. (2009). Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia. Genet. Med. 11: 356-358. 280. Mouta-Bellum C, Kirov A, Miceli-Libby L, Mancini ML, Petrova TV, Liaw L, Prudovsky I, Thorpe PE, Miura N, Cantley LC, Alitalo K, Fruman DA, Vary CP. (2009). Organ-specific lymphangiectasia, arrested lymphatic sprouting, and maturation defects resulting from gene-targeting of the PI3K regulatory isoforms p85alpha, p55alpha, and p50alpha. Dev. Dyn. 238: 2670-2679. 281. Moya ML, Hsu YH, Lee AP, Hughes CC, George SC. (2013). In Vitro Perfused Human Capillary Networks. Tissue Eng. Part C Methods. 2013 Feb 21. [Epub ahead of print]. PMID: 23320912 282. Muñoz R, Arias Y, Ferreras JM, Jiménez P, Langa C, Rojo MA, Gayoso MJ, Córdoba-Díaz D, Bernabéu C, Girbés T. (2013). In vitro and in vivo effects of an anti-mouse endoglin (CD105)-immunotoxin on the early stages of mouse B16MEL4A5 melanoma tumours. Cancer Immunol. Immunother. 62: 541-551. doi: 10.1007/s00262-012-1357-7. 283. Muñoz R, Arias Y, Ferreras JM, Jiménez P, Rojo MA, Bernabéu C, Córdoba-Díaz D, Girbés T. (2012). Transient Injury-Dependent Up-Regulation of CD105 and its Specific Targeting with an Anti-Vascular Anti-Mouse Endoglin-Nigrin b Immunotoxin. Med. Chem. 8: 996-1002. doi: 10.2174/1573406411208060996. 284. 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.

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285. Nawaz A, Litt HI, Stavropoulos SW, Charagundla SR, Shlansky-Goldberg RD, Freiman DB, Chittams J, Pyeritz RE, Trerotola SO. (2008). Digital subtraction pulmonary arteriography versus multidetector CT in the detection of pulmonary arteriovenous malformations. J. Vasc. Interv. Radiol. 19: 1582-1588. 286. Newman AC, Chou W, Welch-Reardon KM, Fong AH, Popson SA, Phan DT, Sandoval DR, Nguyen DP, Gershon PD, Hughes CC. (2013). Analysis of stromal cell secretomes reveals a critical role for stromal cell-derived hepatocyte growth factor and fibronectin in angiogenesis. Arterioscler. Thromb. Vasc. Biol. 33: 513- 522. doi: 10.1161/ATVBAHA.112.300782. 287. Newman AC, Hughes CC. (2012). Macrophages and angiogenesis: a role for Wnt signaling. Vasc. Cell. 4(1):13. doi: 10.1186/2045-824X-4-13. 288. Newman AC, Nakatsu MN, Chou W, Gershon PD, Hughes CC. (2011). The requirement for fibroblasts in angiogenesis: fibroblast-derived matrix are essential for endothelial cell lumen formation. Mol. Biol. Cell. 22: 3791-3800. doi: 10.1091/mbc.E11-05-0393. 289. Nikopoulos GN, Martins JF, Adams TL, Karaczyn A, Adams D, Vary C, Oxburgh L, Verdi JM. (2009). NRAGE: a potential rheostat during branching morphogenesis. Mech. Dev. 126: 337-349. 290. Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, Terbrugge KG, White RI Jr. (2012). Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations. Am. J. Med. Genet. A. 158A: 2829-2834. doi: 10.1002/ajmg.a.35622. 291. Nomura-Kitabayashi A, Anderson GA, Sleep G, Mena J, Karabegovic A, Karamath S, Letarte M, Puri MC. (2009). Endoglin is dispensable for angiogenesis, but required for endocardial cushion formation in the midgestation mouse embryo. Dev. Biol. 335: 66-77. 292. Obreo J, Díez-Marques L, Lamas S, Düwell A, Eleno N, Bernabéu C, Pandiella A, López-Novoa JM, 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. 293. 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. 294. Oh SP, Seki T, Goss KA, Yi Y, Imamura T, Donahoe PK, ten Dijke P, Miyazono K, Kim S, 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. 295. Ojeda-Fernandez L, Barrios L, Rodriguez-Barbero A, Recio-Poveda L, Bernabeu C, Botella LM. (2010). Reduced plasma levels of Ang-2 and sEng as novel

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biomarkers in Hereditary Hemorrhagic Telangiectasia (HHT). Clin. Chim. Acta 411: 494-499. 296. 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 systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. Genet. Med. 8: 183-190. 297. 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. 298. Orlando G, Sabbà C, De Liguori Carino N, Scelzo C, Tariciotti L, Bonanni L, D'Angelo M, Baiocchi L, Lerut J, Tisone G (2008). Non-transplant surgical approach to liver-based hereditary haemorrhagic telangiectasia: a first report. Liver Int. 28: 574-577. doi: 10.1111/j.1478-3231.2007.01588.x. 299. Oxhoj H, Kjeldsen AD, Nielsen G. (2000). Screening for pulmonary arteriovenous malformations: contrast echocardiography versus pulse oximetry. Scand. Cardiovasc. J. 34: 281-285. PMID: 10935775. 300. 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. 301. Park SO, Lee YJ, Seki T, Hong KH, Fliess N, Jiang Z, Park A, Wu X, Kaartinen V, Roman BL, Oh SP. (2008). ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2 (HHT2). Blood. 111: 633-642. 302. Paruchuri S, Yang JH, Aikawa E, Melero-Martin JM, Khan ZA, Loukogeorgakis S, Schoen FJ, Bischoff J. (2006). Human pulmonary valve progenitor cells exhibit endothelial/mesenchymal plasticity in response to vascular endothelial growth factor-A and transforming growth factor-beta2. Circ. Res. 99: 861-869. 303. Pasculli G, Quaranta D, Lenato GM, Suppressa P, Lastella P, Guanti G, Sabbà C. (2005). Capillaroscopy of the dorsal skin of the hands in hereditary hemorrhagic telangiectasia. QJM. 98: 757-763. 304. Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabbà C. (2004). Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual. Life Res. 13: 1715- 1723. 305. Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL; UCSF BAVM Study Project. (2005). Polymorphisms in transforming growth factor-beta-

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related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke 36: 2278-2280. 306. Pawlikowska L, Tran MN, Achrol AS, McCulloch CE, Ha C, Lind DL, Hashimoto T, Zaroff J, Lawton MT, Marchuk DA, Kwok PY, Young WL; UCSF BAVM Study Project. (2004). Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke 35: 2294-300. 307. Pece-Barbara N, Vera S, Kathirkamathamby K, Liebner S, Di Guglielmo GM, Dejana E, Wrana JL, Letarte M. (2005). Endoglin null endothelial cells proliferate faster, and are more responsive to TGF-beta1 with higher affinity receptors and an activated Alk1 pathway. J. Biol. Chem. 280: 27800-27808. 308. Pérez-Barriocanal F, Docherty NG, Arévalo M, Düwel A, Rivas-Elena JV, González-Buitrago JM, Esteller A, Bernabeu C, López-Novoa JM. (2011). Endoglin Upregulation in the Liver after Bile Duct Ligation in Rats. The Open Gastroenterology Journal 5:1-9. . http://www.benthamscience.com/open/togasj/articles/V005/1TOGASJ.pdf. 309. Perez-Gomez E, Del Castillo G, Santibañez JF, Lopez-Novoa JM, Bernabeu C, Quintanilla M. (2010). The role of the TGF-beta coreceptor endoglin in cancer. ScientificWorldJournal 10: 2367-2384. 310. Pérez-Gómez E, Eleno N, López-Novoa JM, Ramirez JR, Velasco B, Letarte M, Bernabéu C, Quintanilla M. (2005). Characterization of murine S-endoglin isoform and its effect on tumor development. Oncogene 24: 4450-4461. 311. Pérez-Gómez E, Villa-Morales M, Santos J, Fernández-Piqueras J, Gamallo C, Dotor J, Bernabéu C, Quintanilla M. (2007). A role for endoglin as a suppressor of malignancy during mouse skin carcinogenesis. Cancer Res. 67: 10268-10277. 312. Pericacho M, Velasco S, Prieto M, Llano E, López-Novoa JM, Rodríguez-Barbero A. (2013). Endoglin haploinsufficiency promotes fibroblast accumulation during healing through Akt activation. PLoS One. 8(1):e54687. doi: 10.1371. 313. Pierucci P, Lenato GM, Suppressa P, Lastella P, Triggiani V, Valerio R, Comelli M, Salvante D, Stella A, Resta N, Logroscino G, Resta F, Sabbà C. (2012). A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet J. Rare Dis. 7: 33. doi:10.1186/1750-1172-7-33. 314. Pierucci P, Murphy J, Henderson KJ, Chyun DA, White RI Jr. (2008). New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience. Chest 133: 653-661. 315. Plauchu H, Dupuis-Girod S. (2009). Hereditary Hemorrhagic Telangiectasia. Rev. Prat. 59: 899-903. French. PMID: 19839452. 316. Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S; French Italian HHT network. (2009). Acute paraplegia due to spinal in two patients

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