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Volumn 6, Issue 4, 2004, Pages 175-191

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

Author keywords

ALK1; ENG; Genetic counseling; Hereditary hemorrhagic telangiectasia; Molecular diagnosis

Indexed keywords

ARTERIOVENOUS MALFORMATION; DIAGNOSTIC PROCEDURE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; PATHOGENESIS; RENDU OSLER WEBER DISEASE; REVIEW; TREATMENT INDICATION;

EID: 3442883144     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000132689.25644.7C     Document Type: Review
Times cited : (101)

References (123)
  • 1
    • 0042130535 scopus 로고    scopus 로고
    • The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: A family screening
    • Westermann CJ, Rosina AF, De Vries V, de Coteau PA. The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet 2003;116A: 324-328.
    • (2003) Am J Med Genet , vol.116 A , pp. 324-328
    • Westermann, C.J.1    Rosina, A.F.2    De Vries, V.3    De Coteau, P.A.4
  • 2
    • 0033007057 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: A population-base study of prevalence and mortality in Danish patients
    • Kjeldsen A, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-base study of prevalence and mortality in Danish patients. J Int Med 1999;245:31-39.
    • (1999) J Int Med , vol.245 , pp. 31-39
    • Kjeldsen, A.1    Vase, P.2    Green, A.3
  • 3
    • 0021614384 scopus 로고
    • Epidemiologie et constitution d'un registre de population a propos d'une concentration geographique d'une maladie hereditaire rare
    • Plauchu H, Bideau A. Epidemiologie et constitution d'un registre de population a propos d'une concentration geographique d'une maladie hereditaire rare. Population 1984;39:765-786.
    • (1984) Population , vol.39 , pp. 765-786
    • Plauchu, H.1    Bideau, A.2
  • 4
    • 0036164129 scopus 로고    scopus 로고
    • Genetics epidemiology of hereditary hemorrhagic telangiectasia in a local community in the Northern Part of Japan
    • Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M et al. Genetics epidemiology of hereditary hemorrhagic telangiectasia in a local community in the Northern Part of Japan. Hum Mutat 2002;19:140-148.
    • (2002) Hum Mutat , vol.19 , pp. 140-148
    • Dakeishi, M.1    Shioya, T.2    Wada, Y.3    Shindo, T.4    Otaka, K.5    Manabe, M.6
  • 5
    • 0036363130 scopus 로고    scopus 로고
    • Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia
    • Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia. Pediatrics 2002;109:1-7.
    • (2002) Pediatrics , vol.109 , pp. 1-7
    • Morgan, T.1    McDonald, J.2    Anderson, C.3    Ismail, M.4    Miller, F.5    Mao, R.6
  • 6
    • 0017821361 scopus 로고
    • Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Disease): Report of 2 cases and review of the literature
    • Roman G, Fisher M, Perl D, Poser C. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Disease): Report of 2 cases and review of the literature. Ann Neurol 1978;4:130-144.
    • (1978) Ann Neurol , vol.4 , pp. 130-144
    • Roman, G.1    Fisher, M.2    Perl, D.3    Poser, C.4
  • 8
    • 0027376303 scopus 로고
    • Pulmonary arteriovenous malformation in the neonate
    • Mitchell R, Austin E. Pulmonary arteriovenous malformation in the neonate. J Pediatr Surg 1993;28:1536-1538.
    • (1993) J Pediatr Surg , vol.28 , pp. 1536-1538
    • Mitchell, R.1    Austin, E.2
  • 9
    • 0015074792 scopus 로고
    • Excision of spinal cord arteriovenous malformation
    • Reichman H, Sorensen B. Excision of spinal cord arteriovenous malformation. Rocky Mt Med J 1971;68:21-24.
    • (1971) Rocky Mt Med J , vol.68 , pp. 21-24
    • Reichman, H.1    Sorensen, B.2
  • 10
  • 11
    • 0033910409 scopus 로고    scopus 로고
    • A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlined to the known HHT genes, endoglin and ALK-1
    • Wallace G, Shovlin C. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlined to the known HHT genes, endoglin and ALK-1. Thorax 2000;55:685-690.
    • (2000) Thorax , vol.55 , pp. 685-690
    • Wallace, G.1    Shovlin, C.2
  • 13
    • 0025939367 scopus 로고
    • The natural history of epistaxis in hereditary hemorrhagic telangiectases
    • Assar A, Friedman C, White R. The natural history of epistaxis in hereditary hemorrhagic telangiectases. Laryngoscope 1991;101:977-980.
    • (1991) Laryngoscope , vol.101 , pp. 977-980
    • Assar, A.1    Friedman, C.2    White, R.3
  • 14
    • 0024394433 scopus 로고
    • Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population
    • Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-297.
    • (1989) Am J Med Genet , vol.32 , pp. 291-297
    • Plauchu, H.1    De Chadarevian, J.P.2    Bideau, A.3    Robert, J.M.4
  • 15
    • 0026683949 scopus 로고
    • Hereditary haemorrhagic telangiectasia: A clinical analysis
    • Porteous M, Burn J, Proctor S. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992;29:527-530.
    • (1992) J Med Genet , vol.29 , pp. 527-530
    • Porteous, M.1    Burn, J.2    Proctor, S.3
  • 16
    • 0033953054 scopus 로고    scopus 로고
    • Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia
    • Kjeldsen A, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415-418.
    • (2000) Am J Gastroenterol , vol.95 , pp. 415-418
    • Kjeldsen, A.1    Kjeldsen, J.2
  • 17
    • 0022261163 scopus 로고
    • Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia
    • Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985;218:105-109.
    • (1985) Acta Med Scand , vol.218 , pp. 105-109
    • Vase, P.1    Holm, M.2    Arendrup, H.3
  • 18
    • 0028851489 scopus 로고
    • Screening family members of patients with hereditary hemorrhagic telangiectasia
    • Haitjema T, Disch F, Overtoom T, Westermann C, Lammers J. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995;99:519-524.
    • (1995) Am J Med , vol.99 , pp. 519-524
    • Haitjema, T.1    Disch, F.2    Overtoom, T.3    Westermann, C.4    Lammers, J.5
  • 19
    • 0033831442 scopus 로고    scopus 로고
    • Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)
    • Kjeldsen A, Oxhoj H, Andersen P, Green A, Vase P. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Int Med 2000;248:255-262.
    • (2000) J Int Med , vol.248 , pp. 255-262
    • Kjeldsen, A.1    Oxhoj, H.2    Andersen, P.3    Green, A.4    Vase, P.5
  • 20
    • 0032799731 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms
    • Shovlin C, LeTarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999;54:714-729.
    • (1999) Thorax , vol.54 , pp. 714-729
    • Shovlin, C.1    LeTarte, M.2
  • 21
    • 0026601001 scopus 로고
    • Pulmonary arteriovenous malformations: How do we diagnoses them and why is it important to do so?
    • White R. Pulmonary arteriovenous malformations: how do we diagnoses them and why is it important to do so? Radiology 1992;182:633-635.
    • (1992) Radiology , vol.182 , pp. 633-635
    • White, R.1
  • 22
    • 0027970430 scopus 로고
    • Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia
    • Ference B, Shannon T, White R, Zawin M, Burdge C. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994;106:1387-1390.
    • (1994) Chest , vol.106 , pp. 1387-1390
    • Ference, B.1    Shannon, T.2    White, R.3    Zawin, M.4    Burdge, C.5
  • 24
    • 0030281252 scopus 로고    scopus 로고
    • Pulmonary arteriovenous malformations: Diagnosis and transcatheter embolotherapy
    • White R, Pollak J, Wirth J. Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol 1996;7:787-804.
    • (1996) J Vasc Interv Radiol , vol.7 , pp. 787-804
    • White, R.1    Pollak, J.2    Wirth, J.3
  • 25
    • 0022389192 scopus 로고
    • Cerebral embolism: First manifestation of pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia
    • Hewes R, Auster M, White R. Cerebral embolism: first manifestation of pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Cardiovasc Inter Rad 1985;8:151-155.
    • (1985) Cardiovasc Inter Rad , vol.8 , pp. 151-155
    • Hewes, R.1    Auster, M.2    White, R.3
  • 26
    • 0029563707 scopus 로고
    • Medical complications of pregnancy in hereditary hemorrhagic telangiectasia
    • Shovlin C, Winstock A, Peters A, Jackson J, Hughes J. Medical complications of pregnancy in hereditary hemorrhagic telangiectasia. Q J Med 1995;88:879-887.
    • (1995) Q J Med , vol.88 , pp. 879-887
    • Shovlin, C.1    Winstock, A.2    Peters, A.3    Jackson, J.4    Hughes, J.5
  • 27
    • 0032231685 scopus 로고    scopus 로고
    • MR of hereditary hemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations
    • Fulbright R, Chaloupka J, Putman C, Sze G, Merriam M, Lee G et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neurol Radial 1998;19:477-484.
    • (1998) AJNR Am J Neurol Radial , vol.19 , pp. 477-484
    • Fulbright, R.1    Chaloupka, J.2    Putman, C.3    Sze, G.4    Merriam, M.5    Lee, G.6
  • 28
    • 0034082212 scopus 로고    scopus 로고
    • Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia
    • Matsubara S, Manzia J, ter Brugge K, Willinsky R, Montanera W, Faughnan M. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. Am J Neuroradiology 2000;21:1016-1020.
    • (2000) Am J Neuroradiology , vol.21 , pp. 1016-1020
    • Matsubara, S.1    Manzia, J.2    Ter Brugge, K.3    Willinsky, R.4    Montanera, W.5    Faughnan, M.6
  • 29
    • 0034016138 scopus 로고    scopus 로고
    • Bleeding risk of cerebrovascular malformation in hereditary hemorrhagic telangiectasia
    • Willemse R, Mager J, Westermann C, Overtoom T, Mauser H, Wolbers J. Bleeding risk of cerebrovascular malformation in hereditary hemorrhagic telangiectasia. J Neurosurg 2000;92:779-784.
    • (2000) J Neurosurg , vol.92 , pp. 779-784
    • Willemse, R.1    Mager, J.2    Westermann, C.3    Overtoom, T.4    Mauser, H.5    Wolbers, J.6
  • 30
    • 0345257073 scopus 로고    scopus 로고
    • Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: Diagnosis, endovascular treatment and review of the literature
    • Mont'Alverne F, Musacchio M, Tolentino V, Belzile F, Riquelme C, Tournade A. Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature. Neuroradiology 2003;45:830-836.
    • (2003) Neuroradiology , vol.45 , pp. 830-836
    • Mont'Alverne, F.1    Musacchio, M.2    Tolentino, V.3    Belzile, F.4    Riquelme, C.5    Tournade, A.6
  • 33
  • 34
    • 0347479223 scopus 로고    scopus 로고
    • Hereditary hemorrhagic telangiectasia of the liver; hyperperfusion with relative ischemia - Poverty amidst plenty?
    • Saluja S, White RI. Hereditary hemorrhagic telangiectasia of the liver; Hyperperfusion with relative ischemia - poverty amidst plenty? Radiology 2004;230:25-27.
    • (2004) Radiology , vol.230 , pp. 25-27
    • Saluja, S.1    White, R.I.2
  • 35
    • 0031015777 scopus 로고    scopus 로고
    • Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family
    • Buscarini E, Buscarini L, Danesino C, Pinatanida M, Civardi G, Quaretti P et al. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family. J Hepato 1997;26:111-118.
    • (1997) J Hepato , vol.26 , pp. 111-118
    • Buscarini, E.1    Buscarini, L.2    Danesino, C.3    Pinatanida, M.4    Civardi, G.5    Quaretti, P.6
  • 36
    • 0034648503 scopus 로고    scopus 로고
    • Clinical manifestations in a large hereditary hemorrhagic telangiectasia type 2 kindred
    • McDonald J, Miller F, Hallam S, Nelson L, Marchuk D, Ward K. Clinical manifestations in a large hereditary hemorrhagic telangiectasia type 2 kindred. Am J Med Genet 2000;93:320-327.
    • (2000) Am J Med Genet , vol.93 , pp. 320-327
    • McDonald, J.1    Miller, F.2    Hallam, S.3    Nelson, L.4    Marchuk, D.5    Ward, K.6
  • 37
    • 0037712529 scopus 로고    scopus 로고
    • Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia
    • His DH, Ryan GF, Hellems SO, Cheeran DC, Sheils LA. Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia. Mayo Clin Proc 2003;78:774-776.
    • (2003) Mayo Clin Proc , vol.78 , pp. 774-776
    • His, D.H.1    Ryan, G.F.2    Hellems, S.O.3    Cheeran, D.C.4    Sheils, L.A.5
  • 38
    • 0026101483 scopus 로고
    • Coronary artery aneurysm without stenosis in association with Osler-Weber-Rendu disease: A case report
    • Tsuiki K, Tamada Y, Yasui S. Coronary artery aneurysm without stenosis in association with Osler-Weber-Rendu disease: A case report. Angiology 1991;42:55-58.
    • (1991) Angiology , vol.42 , pp. 55-58
    • Tsuiki, K.1    Tamada, Y.2    Yasui, S.3
  • 39
    • 0024370535 scopus 로고
    • Ocular manifestations in hereditary hemorrhagic telangiectasia
    • Brant A, Schachat A, White R. Ocular manifestations in hereditary hemorrhagic telangiectasia. Am J Ophthalmol 1989;107:642-646.
    • (1989) Am J Ophthalmol , vol.107 , pp. 642-646
    • Brant, A.1    Schachat, A.2    White, R.3
  • 40
    • 0018578709 scopus 로고
    • Ocular lesions in hereditary hemorrhagic telangiectasia
    • Vase I, Vase P. Ocular lesions in hereditary hemorrhagic telangiectasia. Acta Ophthalmol 1979;57:1084-1090.
    • (1979) Acta Ophthalmol , vol.57 , pp. 1084-1090
    • Vase, I.1    Vase, P.2
  • 41
    • 0017195474 scopus 로고
    • The spectrum of arteriographic findings in Osler-Weber-Rendu disease
    • Lande A, Bedford A, Schechter LS. The spectrum of arteriographic findings in Osler-Weber-Rendu disease. Angiology 1976;27:223-240.
    • (1976) Angiology , vol.27 , pp. 223-240
    • Lande, A.1    Bedford, A.2    Schechter, L.S.3
  • 42
    • 0033822589 scopus 로고    scopus 로고
    • Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber Disease
    • Ziani M, Valignat C, Lopez J, Ruffion A, Plauchu H, Perrin P. Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber Disease. J Urololgy 2000;164:1292-1293.
    • (2000) J Urololgy , vol.164 , pp. 1292-1293
    • Ziani, M.1    Valignat, C.2    Lopez, J.3    Ruffion, A.4    Plauchu, H.5    Perrin, P.6
  • 43
    • 0027253393 scopus 로고
    • Vaginal telangiectasias: Unusual presentation of the Osler-Weber-Rendu syndrome
    • Humphries JE, Frierson HF Jr, Underwood PB Jr. Vaginal telangiectasias: unusual presentation of the Osler-Weber-Rendu syndrome. Obstet Gynecol 1993;81:865-866.
    • (1993) Obstet Gynecol , vol.81 , pp. 865-866
    • Humphries, J.E.1    Frierson Jr., H.F.2    Underwood Jr., P.B.3
  • 44
    • 0026332698 scopus 로고
    • Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations
    • Barzilai B, Waggoner A, Spessert C, Picus D, Goodenberger D. Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations. Am J Cardiol 1991;68:1507-1510.
    • (1991) Am J Cardiol , vol.68 , pp. 1507-1510
    • Barzilai, B.1    Waggoner, A.2    Spessert, C.3    Picus, D.4    Goodenberger, D.5
  • 45
    • 0032809791 scopus 로고    scopus 로고
    • Screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia
    • Kjeldsen A, Oxhoj H, Andersen P, Elle B, Jacobsen J, Vase P. Screening Procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. CHEST 1999;116:432-439.
    • (1999) Chest , vol.116 , pp. 432-439
    • Kjeldsen, A.1    Oxhoj, H.2    Andersen, P.3    Elle, B.4    Jacobsen, J.5    Vase, P.6
  • 46
    • 0035150362 scopus 로고    scopus 로고
    • Contrast echocardiography for detection of pulmonary arteriovenous malformations
    • Nanthakumar K, Graham A, Robinson T, Grande P, Pugash R, Clarke J et al. Contrast echocardiography for detection of pulmonary arteriovenous malformations. Am Heart J 2001;141:243-246.
    • (2001) Am Heart J , vol.141 , pp. 243-246
    • Nanthakumar, K.1    Graham, A.2    Robinson, T.3    Grande, P.4    Pugash, R.5    Clarke, J.6
  • 47
    • 0026556994 scopus 로고
    • Pulmonary arteriovenous malformations: Evaluation with CT of the chest before and after treatment
    • Remy J, Remy-Jardin M, Wattinne L, Deffontaines C. Pulmonary arteriovenous malformations: Evaluation with CT of the chest before and after treatment. Radiology 1992;182:809-816.
    • (1992) Radiology , vol.182 , pp. 809-816
    • Remy, J.1    Remy-Jardin, M.2    Wattinne, L.3    Deffontaines, C.4
  • 48
    • 0028246323 scopus 로고
    • Pulmonary arteriovenous malformations: Diagnosis with three-dimensional helical CT: A breakthrough without contrast media
    • White R, Pollak J. Pulmonary arteriovenous malformations: diagnosis with three-dimensional helical CT: A breakthrough without contrast media. Radiology 1994;191:613-614.
    • (1994) Radiology , vol.191 , pp. 613-614
    • White, R.1    Pollak, J.2
  • 49
    • 0030663612 scopus 로고    scopus 로고
    • Embolotherapy of large pulmonary arteriovenous malformations: Long-term results
    • Lee D, White R, Egglin T, Pollak J, Fayad P, Wirth J et al. Embolotherapy of large pulmonary arteriovenous malformations: long-term results. Ann Thorac Surg 1997;64:930-940.
    • (1997) Ann Thorac Surg , vol.64 , pp. 930-940
    • Lee, D.1    White, R.2    Egglin, T.3    Pollak, J.4    Fayad, P.5    Wirth, J.6
  • 50
    • 0032063733 scopus 로고    scopus 로고
    • Nosebleeds may mean something much more serious: An introduction to HHT
    • Christenson G. Nosebleeds may mean something much more serious: an introduction to HHT. JADA 1998;129:635-637.
    • (1998) JADA , vol.129 , pp. 635-637
    • Christenson, G.1
  • 51
    • 0019498858 scopus 로고
    • Laser photocoagulation in hereditary hemorrhagic telangiectasia
    • Parkin J, Dixon JA. Laser photocoagulation in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 1981;89:204-208.
    • (1981) Otolaryngol Head Neck Surg , vol.89 , pp. 204-208
    • Parkin, J.1    Dixon, J.A.2
  • 52
    • 0021720691 scopus 로고
    • Treatment of hereditary hemorrhagic telangiectasia by Nd-Yag laser photocoagulation
    • Shapshay S, Oliver P. Treatment of hereditary hemorrhagic telangiectasia by Nd-Yag laser photocoagulation. Laryngoscope 1984;94:1554-1556.
    • (1984) Laryngoscope , vol.94 , pp. 1554-1556
    • Shapshay, S.1    Oliver, P.2
  • 53
    • 0000364877 scopus 로고
    • Septal dermoplasty for control of nosebleeds caused by hereditary hemorrhagic telangiectasia or septal perforations
    • Saunders W. Septal dermoplasty for control of nosebleeds caused by hereditary hemorrhagic telangiectasia or septal perforations. Trans Am Acad Ophthalmol Otolaryngol 1960;64:500-506.
    • (1960) Trans Am Acad Ophthalmol Otolaryngol , vol.64 , pp. 500-506
    • Saunders, W.1
  • 54
    • 0037256839 scopus 로고    scopus 로고
    • Diagnosis and management of gastrointestinal bleeding in patient with hereditary hemorrhagic telangiectasia
    • Longacre A, Gross C, Gallitelli M, Henderson K, White R, Proctor D. Diagnosis and management of gastrointestinal bleeding in patient with hereditary hemorrhagic telangiectasia. Am J Gastroenterology 2003 98:59-65.
    • (2003) Am J Gastroenterology , vol.98 , pp. 59-65
    • Longacre, A.1    Gross, C.2    Gallitelli, M.3    Henderson, K.4    White, R.5    Proctor, D.6
  • 55
    • 0035113551 scopus 로고    scopus 로고
    • Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy
    • Gershon A, Faughnan M, Chon K, Pugash R, Clark J, Bohan M et al. Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy. CHEST 2001;119:470-477.
    • (2001) Chest , vol.119 , pp. 470-477
    • Gershon, A.1    Faughnan, M.2    Chon, K.3    Pugash, R.4    Clark, J.5    Bohan, M.6
  • 57
    • 0025786167 scopus 로고
    • Combined endovascular embolization and surgery in the management of cerebral arteriovenous malformations: Experience with 101 cases
    • Vinuela F, Dion J, Duckwiler G, Martin N, Lylyk P, Fox A et al. Combined endovascular embolization and surgery in the management of cerebral arteriovenous malformations: experience with 101 cases. J Neurosurg 1991;75:856-864.
    • (1991) J Neurosurg , vol.75 , pp. 856-864
    • Vinuela, F.1    Dion, J.2    Duckwiler, G.3    Martin, N.4    Lylyk, P.5    Fox, A.6
  • 58
    • 0031762878 scopus 로고    scopus 로고
    • Liver transplantation as definitive therapy for complication after arterial embolization for hepatic manifestations of hereditary hemorrhagic telangiectasia
    • Odorico J, Hakim M, Becker Y. Liver transplantation as definitive therapy for complication after arterial embolization for hepatic manifestations of hereditary hemorrhagic telangiectasia. Liver Transpl Surg 1998;4:483-490.
    • (1998) Liver Transpl Surg , vol.4 , pp. 483-490
    • Odorico, J.1    Hakim, M.2    Becker, Y.3
  • 59
    • 0032725267 scopus 로고    scopus 로고
    • Caution with use of hepatic embolization in the treatment of hereditary hemorrhagic telangiectasia
    • Miller F, Whiting J, Korzenik J, White R. Caution with use of hepatic embolization in the treatment of hereditary hemorrhagic telangiectasia. Radiology 1999;213:928-930.
    • (1999) Radiology , vol.213 , pp. 928-930
    • Miller, F.1    Whiting, J.2    Korzenik, J.3    White, R.4
  • 60
    • 0032958453 scopus 로고    scopus 로고
    • Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement
    • Boillot O, Bianco F. Viale J. Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement. Gastroenterology 1999;116:187-192.
    • (1999) Gastroenterology , vol.116 , pp. 187-192
    • Boillot, O.1    Bianco, F.2    Viale, J.3
  • 66
    • 0032033442 scopus 로고    scopus 로고
    • Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors
    • Roijer E, Miyazono K, Astrom AK, Geurts van Kessel A, ten Dijke P, Stenman G. Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors. Mamm Genome 1998;9:266-268.
    • (1998) Mamm Genome , vol.9 , pp. 266-268
    • Roijer, E.1    Miyazono, K.2    Astrom, A.K.3    Geurts Van Kessel, A.4    Ten Dijke, P.5    Stenman, G.6
  • 67
    • 0028171579 scopus 로고
    • Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
    • McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-351.
    • (1994) Nat Genet , vol.8 , pp. 345-351
    • McAllister, K.A.1    Grogg, K.M.2    Johnson, D.W.3    Gallione, C.J.4    Baldwin, M.A.5    Jackson, C.E.6
  • 68
    • 0030813490 scopus 로고    scopus 로고
    • The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
    • Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE et al. The Activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 1997;61:60-67.
    • (1997) Am J Hum Genet , vol.61 , pp. 60-67
    • Berg, J.N.1    Gallione, C.J.2    Stenzel, T.T.3    Johnson, D.W.4    Allen, W.P.5    Schwartz, C.E.6
  • 69
    • 0027525105 scopus 로고
    • Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors
    • Attisano L, Carcamo J, Venture F, Weis FM, Massagué J, Wrana JL. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell 1993;5:671-680.
    • (1993) Cell , vol.5 , pp. 671-680
    • Attisano, L.1    Carcamo, J.2    Venture, F.3    Weis, F.M.4    Massagué, J.5    Wrana, J.L.6
  • 70
    • 0026646785 scopus 로고
    • Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells
    • Cheifetz S, BellÓn T, Calés C, Vera S, Bernabeu C, Massagué J et al. Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells. J Biol Chem 1992;267:19027-19030.
    • (1992) J Biol Chem , vol.267 , pp. 19027-19030
    • Cheifetz, S.1    BellÓn, T.2    Calés, C.3    Vera, S.4    Bernabeu, C.5    Massagué, J.6
  • 71
    • 0027259431 scopus 로고
    • Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions
    • Bellon T, Corbi A, Lastres P, Cales C, Cebrian M, Vera S et al. Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions. Eur J Immunol 1993;23:2340-2345.
    • (1993) Eur J Immunol , vol.23 , pp. 2340-2345
    • Bellon, T.1    Corbi, A.2    Lastres, P.3    Cales, C.4    Cebrian, M.5    Vera, S.6
  • 72
    • 0037204990 scopus 로고    scopus 로고
    • Signal transduction by the TGF-β superfamily
    • Attisano L, Wrana JL. Signal transduction by the TGF-β superfamily. Science 2002;296:646-1647.
    • (2002) Science , vol.296 , pp. 646-1647
    • Attisano, L.1    Wrana, J.L.2
  • 73
    • 0027328191 scopus 로고
    • Activin receptor-like kinases: A novel subclass of cell-surface receptors with predicted serine/threonine kinase activity
    • ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H et al. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. Oncogene 1993;8:2879-2887.
    • (1993) Oncogene , vol.8 , pp. 2879-2887
    • Ten Dijke, P.1    Ichijo, H.2    Franzen, P.3    Schulz, P.4    Saras, J.5    Toyoshima, H.6
  • 74
    • 0030050973 scopus 로고    scopus 로고
    • Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
    • Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-195.
    • (1996) Nat Genet , vol.13 , pp. 189-195
    • Johnson, D.W.1    Berg, J.N.2    Baldwin, M.A.3    Gallione, C.J.4    Marondel, I.5    Yoon, S.J.6
  • 75
    • 0026585507 scopus 로고
    • Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts
    • Gougos A, St Jacques S, Greaves A, O'Connell PJ, d'Apice AJ, Buhring HJ et al. Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts. Int Immunol 1992;4:83-92.
    • (1992) Int Immunol , vol.4 , pp. 83-92
    • Gougos, A.1    St. Jacques, S.2    Greaves, A.3    O'Connell, P.J.4    D'Apice, A.J.5    Buhring, H.J.6
  • 76
    • 0026599008 scopus 로고
    • Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen
    • Lastres P, Bellon T, Cabanas C, Sanchez-Madrid F, Acevedo A, Gougos A et al. Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen. Eur J Immunol 1992;22:393-397.
    • (1992) Eur J Immunol , vol.22 , pp. 393-397
    • Lastres, P.1    Bellon, T.2    Cabanas, C.3    Sanchez-Madrid, F.4    Acevedo, A.5    Gougos, A.6
  • 77
    • 0033534572 scopus 로고    scopus 로고
    • Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-β superfamily
    • Barbara NP, Wrana JL, Letarte M. Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-β superfamily. J Biol Chem 1999;274:584-594.
    • (1999) J Biol Chem , vol.274 , pp. 584-594
    • Barbara, N.P.1    Wrana, J.L.2    Letarte, M.3
  • 78
    • 0026496172 scopus 로고
    • TGF beta signals through a heteromeric protein kinase receptor complex
    • Wrana JL, Attisano L, Carcamo J, Zentella A, Doody J, Laiho M et al. TGF beta signals through a heteromeric protein kinase receptor complex. Cell 1992;71:1003-1014.
    • (1992) Cell , vol.71 , pp. 1003-1014
    • Wrana, J.L.1    Attisano, L.2    Carcamo, J.3    Zentella, A.4    Doody, J.5    Laiho, M.6
  • 80
    • 0029022221 scopus 로고
    • GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex
    • Wieser R, Wrana JL, Massagué J. GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex. EMBO J 1995;14:2199-2208.
    • (1995) EMBO J , vol.14 , pp. 2199-2208
    • Wieser, R.1    Wrana, J.L.2    Massagué, J.3
  • 81
    • 0031685620 scopus 로고    scopus 로고
    • TGF-β signal transduction
    • Massagué J. TGF-β signal transduction. Annu Rev Biochem 1998;67:753-791.
    • (1998) Annu Rev Biochem , vol.67 , pp. 753-791
    • Massagué, J.1
  • 82
    • 0032442852 scopus 로고    scopus 로고
    • Smads: Transcriptional activators of TGF-β responses
    • Derynck R, Zhang Y, Feng XH. Smads: Transcriptional activators of TGF-β responses. Cell 1998;95:737-740.
    • (1998) Cell , vol.95 , pp. 737-740
    • Derynck, R.1    Zhang, Y.2    Feng, X.H.3
  • 84
    • 12944273545 scopus 로고    scopus 로고
    • Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis
    • Oh SP, Seki T, Goss KA, Imamura T, Yi Y, Donahoe PK et al. Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A 2000;97:2626-2631.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 2626-2631
    • Oh, S.P.1    Seki, T.2    Goss, K.A.3    Imamura, T.4    Yi, Y.5    Donahoe, P.K.6
  • 85
    • 0037007226 scopus 로고    scopus 로고
    • Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors
    • Goumans MJ, Valdimarsdottir G, Itoh S, Rosendahl A, Sideras P, ten Dijke P. Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors. EMBO J 2002;21:1743-1753.
    • (2002) EMBO J , vol.21 , pp. 1743-1753
    • Goumans, M.J.1    Valdimarsdottir, G.2    Itoh, S.3    Rosendahl, A.4    Sideras, P.5    Ten Dijke, P.6
  • 86
    • 0242330126 scopus 로고    scopus 로고
    • Activin receptor-like kinase (ALK) 1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling
    • Goumans MJ, Valdimarsdottir G, Itoh S, Lebrin F, Larsson J, Mummery C et al. Activin receptor-like kinase (ALK) 1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling. Mol Cell 2003;12:817-828.
    • (2003) Mol Cell , vol.12 , pp. 817-828
    • Goumans, M.J.1    Valdimarsdottir, G.2    Itoh, S.3    Lebrin, F.4    Larsson, J.5    Mummery, C.6
  • 87
    • 0028786163 scopus 로고
    • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
    • McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteus AE et al. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet 1995;4:1983-1985.
    • (1995) Hum Mol Genet , vol.4 , pp. 1983-1985
    • McAllister, K.A.1    Baldwin, M.A.2    Thukkani, A.K.3    Gallione, C.J.4    Berg, J.N.5    Porteus, A.E.6
  • 88
    • 0030781148 scopus 로고    scopus 로고
    • Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative
    • Pece N, Vera S, Cymerman U, White R, Wrana J Jr, Letarte M. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest 1997;100:2568-2579.
    • (1997) J Clin Invest , vol.100 , pp. 2568-2579
    • Pece, N.1    Vera, S.2    Cymerman, U.3    White, R.4    Wrana Jr., J.5    Letarte, M.6
  • 89
    • 0032742527 scopus 로고    scopus 로고
    • Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1
    • Pece-barbara N, Cymerman U, Vera S, Marchuk D, Letarte M. Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum Mol Genet 1999;8:2171-2181.
    • (1999) Hum Mol Genet , vol.8 , pp. 2171-2181
    • Pece-Barbara, N.1    Cymerman, U.2    Vera, S.3    Marchuk, D.4    Letarte, M.5
  • 90
    • 0035875091 scopus 로고    scopus 로고
    • Analysis of several endoglin mutants reveals no endoglins mature or secreted protein capable of interfering with normal endoglin function
    • Paquet ME, Pece-Barbara N, Vera S, Cymerman U, Karabegovic A, Shovlin C et al. Analysis of several endoglin mutants reveals no endoglins mature or secreted protein capable of interfering with normal endoglin function. Hum Mol Genet 2001;10:1347-1357.
    • (2001) Hum Mol Genet , vol.10 , pp. 1347-1357
    • Paquet, M.E.1    Pece-Barbara, N.2    Vera, S.3    Cymerman, U.4    Karabegovic, A.5    Shovlin, C.6
  • 91
    • 0034701244 scopus 로고    scopus 로고
    • Expression analysis of endoglin missense and truncation mutations: Insights into protein structure and disease mechanisms
    • Lux A, Gallione CJ, Marchuk DA. Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. Hum Mol Genet 2000;9:745-755.
    • (2000) Hum Mol Genet , vol.9 , pp. 745-755
    • Lux, A.1    Gallione, C.J.2    Marchuk, D.A.3
  • 92
    • 0033888018 scopus 로고    scopus 로고
    • Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformation of patients with hereditary hemorrhagic telangiectasia type 1
    • Bourdeau A, Cymerman U, Paquet ME, Meschino W, McKinnon WC, Guttmacher AE et al. Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformation of patients with hereditary hemorrhagic telangiectasia type 1. Am J Path 2000;156:911-923.
    • (2000) Am J Path , vol.156 , pp. 911-923
    • Bourdeau, A.1    Cymerman, U.2    Paquet, M.E.3    Meschino, W.4    McKinnon, W.C.5    Guttmacher, A.E.6
  • 93
    • 0030860380 scopus 로고    scopus 로고
    • Characterization of endoglin and dentification of novel mutations in hereditary hemorrhagic telangiectasia
    • Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and dentification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet 1997;61:68-79.
    • (1997) Am J Hum Genet , vol.61 , pp. 68-79
    • Shovlin, C.L.1    Hughes, J.M.2    Scott, J.3    Seidman, C.E.4    Seidman, J.G.5
  • 94
    • 0034194584 scopus 로고    scopus 로고
    • Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
    • Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C et al. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet 2000;9:1227-1237.
    • (2000) Hum Mol Genet , vol.9 , pp. 1227-1237
    • Abdalla, S.A.1    Pece-Barbara, N.2    Vera, S.3    Tapia, E.4    Paez, E.5    Bernabeu, C.6
  • 95
    • 18744432185 scopus 로고    scopus 로고
    • Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online
    • Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A et al. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. Hum Mutat 1998;12:137.
    • (1998) Hum Mutat , vol.12 , pp. 137
    • Klaus, D.J.1    Gallione, C.J.2    Anthony, K.3    Yeh, E.Y.4    Yu, J.5    Lux, A.6
  • 96
    • 9144219585 scopus 로고    scopus 로고
    • Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
    • Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD et al. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet 2003;40:865-871.
    • (2003) J Med Genet , vol.40 , pp. 865-871
    • Harrison, R.E.1    Flanagan, J.A.2    Sankelo, M.3    Abdalla, S.A.4    Rowell, J.5    Machado, R.D.6
  • 99
    • 0033621804 scopus 로고    scopus 로고
    • Endoglin, an ancillary TGF beta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development
    • Arthur HM, Ure J, Smith AJ, Renforth G, Wilson DI, Torsney E et al. Endoglin, an ancillary TGF beta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Dev Biol 2000;217:42-53.
    • (2000) Dev Biol , vol.217 , pp. 42-53
    • Arthur, H.M.1    Ure, J.2    Smith, A.J.3    Renforth, G.4    Wilson, D.I.5    Torsney, E.6
  • 100
    • 0037380583 scopus 로고    scopus 로고
    • Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality
    • Torsney E, Charlton R, Diamond AG, Burn J, Soames JV, Arthur HM. Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality. Circulation 2003;107:1653-1657.
    • (2003) Circulation , vol.107 , pp. 1653-1657
    • Torsney, E.1    Charlton, R.2    Diamond, A.G.3    Burn, J.4    Soames, J.V.5    Arthur, H.M.6
  • 101
    • 0033757655 scopus 로고    scopus 로고
    • Arteriovenous malformations in mice lacking activin receptor-like kinase-1
    • Urness LD, Sorensen LK, Li DY. Arteriovenous malformations in mice lacking activin receptor-like kinase-1. Nat Genet 2000;26:328-331.
    • (2000) Nat Genet , vol.26 , pp. 328-331
    • Urness, L.D.1    Sorensen, L.K.2    Li, D.Y.3
  • 103
    • 3442883322 scopus 로고    scopus 로고
    • Arterial endothelium-specific activin receptor-like kinasel expression suggests its role in arterialization and vascular remodeling
    • Seki T, Yun J, Oh P. Arterial endothelium-specific activin receptor-like kinasel expression suggests its role in arterialization and vascular remodeling. Circu Res 2003;3:1-9.
    • (2003) Circu Res , vol.3 , pp. 1-9
    • Seki, T.1    Yun, J.2    Oh, P.3
  • 104
    • 0032720393 scopus 로고    scopus 로고
    • A murine model of hereditary hemorrhagic telangiectasia
    • Bourdeau A, Dumont DJ, Letarte M. A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest 1999;104:1343-1351.
    • (1999) J Clin Invest , vol.104 , pp. 1343-1351
    • Bourdeau, A.1    Dumont, D.J.2    Letarte, M.3
  • 105
    • 0036340364 scopus 로고    scopus 로고
    • Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels
    • Roman BL, Pham VN, Lawson ND, Kulik M, Childs S, Lekven AC et al. Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels. Development 2002;129:3009-3019.
    • (2002) Development , vol.129 , pp. 3009-3019
    • Roman, B.L.1    Pham, V.N.2    Lawson, N.D.3    Kulik, M.4    Childs, S.5    Lekven, A.C.6
  • 106
    • 0033906469 scopus 로고    scopus 로고
    • Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: Evidence foe a founder effect
    • Gallione C, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ et al. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence foe a founder effect. Hum Genet 2000;107:40-44.
    • (2000) Hum Genet , vol.107 , pp. 40-44
    • Gallione, C.1    Scheessele, E.A.2    Reinhardt, D.3    Duits, A.J.4    Berg, J.N.5    Westermann, C.J.6
  • 107
    • 11144356696 scopus 로고    scopus 로고
    • Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France
    • Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat 2004;23:289-299.
    • (2004) Hum Mutat , vol.23 , pp. 289-299
    • Lesca, G.1    Plauchu, H.2    Coulet, F.3    Lefebvre, S.4    Plessis, G.5    Odent, S.6
  • 108
    • 0030047241 scopus 로고    scopus 로고
    • Clinical heterogeneity in hereditary hemorrhagic telangiectasia: Are pulmonary arteriovenous malformation more common in families linked to endoglin?
    • Berg J, Guttmacher A, Marchuk D, Porteous M. Clinical heterogeneity in hereditary hemorrhagic telangiectasia: are pulmonary arteriovenous malformation more common in families linked to endoglin? J Med Genet 1996;33:256-257.
    • (1996) J Med Genet , vol.33 , pp. 256-257
    • Berg, J.1    Guttmacher, A.2    Marchuk, D.3    Porteous, M.4
  • 109
    • 0028606339 scopus 로고
    • Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity
    • Heutink P, Haitjema T, Breedveld G, Janssen B, Sandkuijl L, Bontekoe C et al. Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994;31:933-936.
    • (1994) J Med Genet , vol.31 , pp. 933-936
    • Heutink, P.1    Haitjema, T.2    Breedveld, G.3    Janssen, B.4    Sandkuijl, L.5    Bontekoe, C.6
  • 110
    • 0036634625 scopus 로고    scopus 로고
    • Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
    • Olivieri C, Mira E, Delu G, Pagella F, Zambelli A, Malvezzi L et al. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 2002;39:E39.
    • (2002) J Med Genet , vol.39
    • Olivieri, C.1    Mira, E.2    Delu, G.3    Pagella, F.4    Zambelli, A.5    Malvezzi, L.6
  • 112
    • 0037405760 scopus 로고    scopus 로고
    • Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia
    • Cymerman U, Vera S, Amna K, Abdalla S, Letarte M. Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. Hum Mutat 2003;21:482-492.
    • (2003) Hum Mutat , vol.21 , pp. 482-492
    • Cymerman, U.1    Vera, S.2    Amna, K.3    Abdalla, S.4    Letarte, M.5
  • 113
    • 0030014405 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2
    • Piantanida M, Buscarini E, Dellavecchia C, Minelli A, Rossi A, Buscarini L et al. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 1996;33:441-443.
    • (1996) J Med Genet , vol.33 , pp. 441-443
    • Piantanida, M.1    Buscarini, E.2    Dellavecchia, C.3    Minelli, A.4    Rossi, A.5    Buscarini, L.6
  • 114
    • 0033763735 scopus 로고    scopus 로고
    • American College of Medical Genetics recommendations for standards for interpretation of sequence variations
    • American College of Medical Genetics recommendations for standards for interpretation of sequence variations. Genet Med 2000;2:302-303.
    • (2000) Genet Med , vol.2 , pp. 302-303
  • 115
  • 116
    • 7144222768 scopus 로고    scopus 로고
    • Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
    • Gallione C, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB et al. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat 1998;11:286-294.
    • (1998) Hum Mutat , vol.11 , pp. 286-294
    • Gallione, C.1    Klaus, D.J.2    Yeh, E.Y.3    Stenzel, T.T.4    Xue, Y.5    Anthony, K.B.6
  • 117
    • 0033977915 scopus 로고    scopus 로고
    • Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protwin expression and mutation analysis of endoglin
    • Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White R, Dunn Jr J et al. Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protwin expression and mutation analysis of endoglin. Pediat Res 2000;47:24-35.
    • (2000) Pediat Res , vol.47 , pp. 24-35
    • Cymerman, U.1    Vera, S.2    Pece-Barbara, N.3    Bourdeau, A.4    White, R.5    Dunn Jr., J.6
  • 118
    • 0043133577 scopus 로고    scopus 로고
    • Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia
    • Lastella P, Sabba C, Lenato GM, Resta N, Lattanzi W, Gallitelli M et al. Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia. Clin Genet 2003;63:536-540.
    • (2003) Clin Genet , vol.63 , pp. 536-540
    • Lastella, P.1    Sabba, C.2    Lenato, G.M.3    Resta, N.4    Lattanzi, W.5    Gallitelli, M.6
  • 119
    • 0031045556 scopus 로고    scopus 로고
    • A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia
    • Yamaguchi H, Azuma H, Shigekiyo T, Inoue H, Saito S. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb Haemost 1997;77:243-247.
    • (1997) Thromb Haemost , vol.77 , pp. 243-247
    • Yamaguchi, H.1    Azuma, H.2    Shigekiyo, T.3    Inoue, H.4    Saito, S.5
  • 120
    • 3442888785 scopus 로고    scopus 로고
    • Edinburg, Molecular Genetics Service
    • Hereditary Hemorrhagic telangiectasia mutation database, Edinburg, Molecular Genetics Service 2003 Available at: http://137.195.14.43/genisysDR/ NVC/198/Display/index.htm.
    • (2003) Hereditary Hemorrhagic Telangiectasia Mutation Database
  • 121
    • 0035797556 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    • Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001;345:325-334.
    • (2001) N Engl J Med , vol.345 , pp. 325-334
    • Trembath, R.C.1    Thomson, J.R.2    Machado, R.D.3    Morgan, N.V.4    Atkinson, C.5    Winship, I.6
  • 122
    • 0035253793 scopus 로고    scopus 로고
    • Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families
    • Kjeldsen AD, Brusgaard K, Poulsen L, Kruse T, Rasmussen K, Green A et al. Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am J Med Genet 2001;98:298-302.
    • (2001) Am J Med Genet , vol.98 , pp. 298-302
    • Kjeldsen, A.D.1    Brusgaard, K.2    Poulsen, L.3    Kruse, T.4    Rasmussen, K.5    Green, A.6
  • 123
    • 0033349356 scopus 로고    scopus 로고
    • Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors
    • D'Abronzo FH, Swearingen B, Klibanski A, Alexander JM. Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors. J Clin Endocrinol Metab 1999;84:1716-1721.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1716-1721
    • D'Abronzo, F.H.1    Swearingen, B.2    Klibanski, A.3    Alexander, J.M.4


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