-
1
-
-
0042130535
-
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
-
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
-
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
-
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
-
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
-
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
-
7
-
-
0026530060
-
Arteriovenous malformations of the brain in children: A forty year experience
-
Kondziolka D, Humphreys R, Hoffman H, Hendrick EB, Drake J. Arteriovenous malformations of the brain in children: a forty year experience. Can J Neurol Sci 1992;19:40-45.
-
(1992)
Can J Neurol Sci
, vol.19
, pp. 40-45
-
-
Kondziolka, D.1
Humphreys, R.2
Hoffman, H.3
Hendrick, E.B.4
Drake, J.5
-
8
-
-
0027376303
-
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
-
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
-
11
-
-
0033910409
-
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
-
12
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome)
-
Shovlin C, Guttmacher A, Buscarini E, Faughnan M, Hyland R, Westermann C et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome). Am J Med Genet 2000;91:66-67.
-
(2000)
Am J Med Genet
, vol.91
, pp. 66-67
-
-
Shovlin, C.1
Guttmacher, A.2
Buscarini, E.3
Faughnan, M.4
Hyland, R.5
Westermann, C.6
-
13
-
-
0025939367
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
23
-
-
0034633646
-
Pulmonary arteriovenous malformations: Cerebral ischemia and neurologic manifestations
-
Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K et al. Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology 2000;55:959-964.
-
(2000)
Neurology
, vol.55
, pp. 959-964
-
-
Moussouttas, M.1
Fayad, P.2
Rosenblatt, M.3
Hashimoto, M.4
Pollak, J.5
Henderson, K.6
-
24
-
-
0030281252
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
31
-
-
0034727052
-
Liver disease in patients with hereditary hemorrhagic telangiectasia
-
Garcia-Tsao G, Korzenik J, Young L, Henderson K, Jain D, Byrd B et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:931-936.
-
(2000)
N Engl J Med
, vol.343
, pp. 931-936
-
-
Garcia-Tsao, G.1
Korzenik, J.2
Young, L.3
Henderson, K.4
Jain, D.5
Byrd, B.6
-
32
-
-
1642332403
-
Hepatic involvement in hereditary hemorrhagic telangiectasia
-
Epub ahead of print
-
Memeo M, Stabile Ianora AA, Scardapane A Buonamico P, Sabba C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: Abdom Imaging 2004. Epub ahead of print.
-
(2004)
Abdom Imaging
-
-
Memeo, M.1
Stabile Ianora, A.A.2
Scardapane, A.3
Buonamico, P.4
Sabba, C.5
Angelelli, G.6
-
33
-
-
3442888231
-
Hereditary hemorrhagic telangiectasia: Multidetector row helical T assessment
-
Ianora AA, Memeo M, Sabba C, Cirulli A, Rotondo A, Angelelli G. Hereditary hemorrhagic telangiectasia: multidetector row helical T assessment. Radiology 2004;230250-230259.
-
(2004)
Radiology
, pp. 230250-230259
-
-
Ianora, A.A.1
Memeo, M.2
Sabba, C.3
Cirulli, A.4
Rotondo, A.5
Angelelli, G.6
-
34
-
-
0347479223
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
56
-
-
0034491221
-
Radiosurgery for childhood intracranial arteriovenous malformations
-
Levy EI, Niranjan M, Thompson T, Scarrow A, Kondziolka D, Flickinger J et al. Radiosurgery for childhood intracranial arteriovenous malformations. Neurosurgery 2000;47:834-842.
-
(2000)
Neurosurgery
, vol.47
, pp. 834-842
-
-
Levy, E.I.1
Niranjan, M.2
Thompson, T.3
Scarrow, A.4
Kondziolka, D.5
Flickinger, J.6
-
57
-
-
0025786167
-
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
-
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
-
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
-
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
-
61
-
-
0027372211
-
Assignment of the human endoglin gene (END) to 9q34-qter
-
Fernandez-Ruiz E, St-Jacques S, Bellon T, Letarte M, Bernabeu C. Assignment of the human endoglin gene (END) to 9q34-qter. Cytogenet Cell Genet 1993;64:204-207.
-
(1993)
Cytogenet Cell Genet
, vol.64
, pp. 204-207
-
-
Fernandez-Ruiz, E.1
St-Jacques, S.2
Bellon, T.3
Letarte, M.4
Bernabeu, C.5
-
62
-
-
0028283454
-
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34
-
McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994;6:197-204.
-
(1994)
Nat Genet
, vol.6
, pp. 197-204
-
-
McDonald, M.T.1
Papenberg, K.A.2
Ghosh, S.3
Glatfelter, A.A.4
Biesecker, B.B.5
Helmbold, E.A.6
-
63
-
-
0028239861
-
A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3
-
Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 1994;6:205-209.
-
(1994)
Nat Genet
, vol.6
, pp. 205-209
-
-
Shovlin, C.L.1
Hughes, J.M.2
Tuddenham, E.G.3
Temperley, I.4
Perembelon, Y.F.5
Scott, J.6
-
64
-
-
0029004599
-
A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q
-
Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Gen 1995;4:945-949.
-
(1995)
Hum Mol Gen
, vol.4
, pp. 945-949
-
-
Vincent, P.1
Plauchu, H.2
Hazan, J.3
Fauré, S.4
Weissenbach, J.5
Godet, J.6
-
65
-
-
0029125615
-
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12
-
Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-28.
-
(1995)
Genome Res
, vol.5
, pp. 21-28
-
-
Johnson, D.W.1
Berg, J.N.2
Gallione, C.J.3
McAllister, K.A.4
Warner, J.P.5
Helmbold, E.A.6
-
66
-
-
0032033442
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
79
-
-
0028170226
-
Mechanism of activation of the TGF-beta receptor
-
Wrana JL, Attisano L, Wieser R, Ventura F, Massagué J. Mechanism of activation of the TGF-beta receptor. Nature 1994;370:341-347.
-
(1994)
Nature
, vol.370
, pp. 341-347
-
-
Wrana, J.L.1
Attisano, L.2
Wieser, R.3
Ventura, F.4
Massagué, J.5
-
80
-
-
0029022221
-
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
-
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
-
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
-
83
-
-
12144286738
-
A combined syndrome of juvenile polyposis with mutations in MADH4 (SMAD4)
-
Gallione CJ, Repetto GM, Legius E, Rustig AK, Schelley SL, Tejpar S et al. A combined syndrome of juvenile polyposis with mutations in MADH4 (SMAD4). Lancet 2004;363:852-859.
-
(2004)
Lancet
, vol.363
, pp. 852-859
-
-
Gallione, C.J.1
Repetto, G.M.2
Legius, E.3
Rustig, A.K.4
Schelley, S.L.5
Tejpar, S.6
-
84
-
-
12944273545
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
97
-
-
0038364150
-
Disease-associated mutations in conserved residues of ALK-1 kinase domain
-
Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M. Disease-associated mutations in conserved residues of ALK-1 kinase domain. Eur J Hum Genet 2003;11:279-287.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 279-287
-
-
Abdalla, S.A.1
Cymerman, U.2
Johnson, R.M.3
Deber, C.M.4
Letarte, M.5
-
98
-
-
0033612141
-
Defective angiogenesis in mice lacking endoglin
-
Li DY, Sorensen LK, Brooke BS, Urness LD, Davis EC, Taylor DG et al. Defective angiogenesis in mice lacking endoglin. Science 1999;284:1534-1537.
-
(1999)
Science
, vol.284
, pp. 1534-1537
-
-
Li, D.Y.1
Sorensen, L.K.2
Brooke, B.S.3
Urness, L.D.4
Davis, E.C.5
Taylor, D.G.6
-
99
-
-
0033621804
-
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
-
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
-
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
-
102
-
-
0037341510
-
A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2
-
Srinivasan S, Hanes MA, Dickens T, Porteous ME, Oh SP, Hale LP et al. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet 2003;12:473-482.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 473-482
-
-
Srinivasan, S.1
Hanes, M.A.2
Dickens, T.3
Porteous, M.E.4
Oh, S.P.5
Hale, L.P.6
-
103
-
-
3442883322
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
111
-
-
0037488236
-
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
-
Abdalla S, Geisthoff U, Bonneau D, Plauchu H, McDonald J, Kennedy S et al. Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet 2003;40:494-502.
-
(2003)
J Med Genet
, vol.40
, pp. 494-502
-
-
Abdalla, S.1
Geisthoff, U.2
Bonneau, D.3
Plauchu, H.4
McDonald, J.5
Kennedy, S.6
-
112
-
-
0037405760
-
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
-
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
-
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
-
-
-
116
-
-
7144222768
-
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
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
|