-
2
-
-
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
-
3
-
-
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;13:189-95.
-
(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
-
4
-
-
33749239827
-
Hereditary haemorrhagic telangiectasia: Mutation detection, test sensitivity and novel mutations
-
Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, et al. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet 2006;43:722-8.
-
(2006)
J Med Genet
, vol.43
, pp. 722-728
-
-
Prigoda, N.L.1
Savas, S.2
Abdalla, S.A.3
Piovesan, B.4
Rushlow, D.5
Vandezande, K.6
-
5
-
-
33745700371
-
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): Correlation of genotype with phenotype
-
Bossler AD, Richards J, George C, Godmilow L, Ganguly A. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Hum Mutat 2006;27:667-75.
-
(2006)
Hum Mutat
, vol.27
, pp. 667-675
-
-
Bossler, A.D.1
Richards, J.2
George, C.3
Godmilow, L.4
Ganguly, A.5
-
6
-
-
0027970430
-
Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia
-
Ference BA, Shannon TM, White RI Jr, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994;106:1387-90.
-
(1994)
Chest
, vol.106
, pp. 1387-1390
-
-
Ference, B.A.1
Shannon, T.M.2
White Jr., R.I.3
Zawin, M.4
Burdge, C.M.5
-
7
-
-
0029563707
-
Medical complications of pregnancy in hereditary haemorrhagic telangiectasia
-
Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM 1995;88:879-87.
-
(1995)
QJM
, vol.88
, pp. 879-887
-
-
Shovlin, C.L.1
Winstock, A.R.2
Peters, A.M.3
Jackson, J.E.4
Hughes, J.M.5
-
8
-
-
0035113551
-
Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy
-
Gershon AS, Faughnan ME, Chon KS, Pugash RA, Clark JA, Bohan MJ, et al. Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy. Chest 2001;119:470-7.
-
(2001)
Chest
, vol.119
, pp. 470-477
-
-
Gershon, A.S.1
Faughnan, M.E.2
Chon, K.S.3
Pugash, R.A.4
Clark, J.A.5
Bohan, M.J.6
-
9
-
-
47349107056
-
Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): Suggested approach for obstetric services
-
Shovlin C, Sodhi V, McCarthy A, Lasjaunias P, Jackson JE, Sheppard MN. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG 2008;115:1108-15.
-
(2008)
BJOG
, vol.115
, pp. 1108-1115
-
-
Shovlin, C.1
Sodhi, V.2
McCarthy, A.3
Lasjaunias, P.4
Jackson, J.E.5
Sheppard, M.N.6
-
10
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
-
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-7.
-
(2000)
Am J Med Genet
, vol.91
, pp. 66-67
-
-
Shovlin, C.L.1
Guttmacher, A.E.2
Buscarini, E.3
Faughnan, M.E.4
Hyland, R.H.5
Westermann, C.J.6
-
12
-
-
26444494862
-
Physiologic changes in pregnancy and their impact on critical care
-
Yeomans ER, Gilstrap LC 3rd. Physiologic changes in pregnancy and their impact on critical care. Crit Care Med 2005; 33(suppl):S256-8.
-
(2005)
Crit Care Med
, vol.33
, Issue.SUPPL.
-
-
Yeomans, E.R.1
Gilstrap, L.C.2
-
13
-
-
0030663612
-
Embolotherapy of large pulmonary arteriovenous malformations: Long-term results
-
Lee DW, White RI Jr, Egglin TK, Pollak JS, Fayad PB, Wirth JA, et al. Embolotherapy of large pulmonary arteriovenous malformations: long-term results. Ann Thorac Surg 1997; 64:930-9.
-
(1997)
Ann Thorac Surg
, vol.64
, pp. 930-939
-
-
Lee, D.W.1
White Jr., R.I.2
Egglin, T.K.3
Pollak, J.S.4
Fayad, P.B.5
Wirth, J.A.6
-
14
-
-
0034016138
-
Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia
-
Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 2000;92:779-84.
-
(2000)
J Neurosurg
, vol.92
, pp. 779-784
-
-
Willemse, R.B.1
Mager, J.J.2
Westermann, C.J.3
Overtoom, T.T.4
Mauser, H.5
Wolbers, J.G.6
-
15
-
-
0025245634
-
Pregnancy and the risk of hemorrhage from cerebral arteriovenous malformations
-
Horton JC, Chambers WA, Lyons SL, Adams RD, Kjellberg RN. Pregnancy and the risk of hemorrhage from cerebral arteriovenous malformations. Neurosurgery 1990;27: 867-71.
-
(1990)
Neurosurgery
, vol.27
, pp. 867-871
-
-
Horton, J.C.1
Chambers, W.A.2
Lyons, S.L.3
Adams, R.D.4
Kjellberg, R.N.5
-
16
-
-
0034046719
-
Cerebro-meningeal hemorrhage secondary to ruptured vascular malformation during pregnancy and post-partum
-
[in French]
-
Velut S, Vinikoff L, Destrieux C, Kakou M. [Cerebro-meningeal hemorrhage secondary to ruptured vascular malformation during pregnancy and post-partum] [in French]. Neurochirurgie 2000;46:95-104.
-
(2000)
Neurochirurgie
, vol.46
, pp. 95-104
-
-
Velut, S.1
Vinikoff, L.2
Destrieux, C.3
Kakou, M.4
-
17
-
-
0025222801
-
Intracranial hemorrhage from aneurysms and arteriovenous malformations during pregnancy and the puerperium
-
Dias MS, Sekhar LN. Intracranial hemorrhage from aneurysms and arteriovenous malformations during pregnancy and the puerperium. Neurosurgery 1990;27:855-65.
-
(1990)
Neurosurgery
, vol.27
, pp. 855-865
-
-
Dias, M.S.1
Sekhar, L.N.2
-
18
-
-
79551624460
-
International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia
-
HHT Foundation International-Guidelines Working Group
-
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al; HHT Foundation International-Guidelines Working Group. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet 2011;48:73-87.
-
(2011)
J Med Genet
, vol.48
, pp. 73-87
-
-
Faughnan, M.E.1
Palda, V.A.2
Garcia-Tsao, G.3
Geisthoff, U.W.4
McDonald, J.5
Proctor, D.D.6
-
19
-
-
48449084739
-
Review article: The hepatic manifestations of hereditary haemorrhagic telangiectasia
-
Sabbà C, Pompili M. Review article: the hepatic manifestations of hereditary haemorrhagic telangiectasia. Aliment Pharmacol Ther 2008;28:523-33.
-
(2008)
Aliment Pharmacol Ther
, vol.28
, pp. 523-533
-
-
Sabbà, C.1
Pompili, M.2
-
20
-
-
51449105049
-
Hereditary-hemorrhagic telangiectasia: One-step magnetic resonance examination in evaluation of liver involvement
-
Milot L, Kamaoui I, Gautier G, Pilleul F. Hereditary-hemorrhagic telangiectasia: one-step magnetic resonance examination in evaluation of liver involvement. Gastroenterol Clin Biol 2008;32:677-85.
-
(2008)
Gastroenterol Clin Biol
, vol.32
, pp. 677-685
-
-
Milot, L.1
Kamaoui, I.2
Gautier, G.3
Pilleul, F.4
-
21
-
-
34250172107
-
Hereditary hemorrhagic telangiectasia: Clinical features in ENG and ALK1 mutation carriers
-
Sabbà C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost 2007;5:1149-57.
-
(2007)
J Thromb Haemost
, vol.5
, pp. 1149-1157
-
-
Sabbà, C.1
Pasculli, G.2
Lenato, G.M.3
Suppressa, P.4
Lastella, P.5
Memeo, M.6
-
22
-
-
33645786728
-
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
-
Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet 2006;43: 371-7.
-
(2006)
J Med Genet
, vol.43
, pp. 371-377
-
-
Letteboer, T.G.1
Mager, J.J.2
Snijder, R.J.3
Koeleman, B.P.4
Lindhout, D.5
Ploos Van Amstel, J.K.6
-
23
-
-
4644353125
-
Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia-results of extensive screening
-
Buscarini E, Danesino C, Olivieri C, Lupinacci G, De Grazia F, Reduzzi L, et al. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia-results of extensive screening. Ultraschall Med 2004;25:348-55.
-
(2004)
Ultraschall Med
, vol.25
, pp. 348-355
-
-
Buscarini, E.1
Danesino, C.2
Olivieri, C.3
Lupinacci, G.4
De Grazia, F.5
Reduzzi, L.6
-
24
-
-
33644870430
-
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations
-
Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, et al. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A 2006;140:463-70.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 463-470
-
-
Bayrak-Toydemir, P.1
McDonald, J.2
Markewitz, B.3
Lewin, S.4
Miller, F.5
Chou, L.S.6
-
25
-
-
43049159721
-
Hereditary hemorrhagic telangectasia and spinal cord infarct: Case report with a review of the neurological complications of HHT
-
Espinosa PS, Pettigrew LC, Berger JR. Hereditary hemorrhagic telangectasia and spinal cord infarct: case report with a review of the neurological complications of HHT. Clin Neurol Neurosurg 2008;110:484-91.
-
(2008)
Clin Neurol Neurosurg
, vol.110
, pp. 484-491
-
-
Espinosa, P.S.1
Pettigrew, L.C.2
Berger, J.R.3
-
26
-
-
58149090066
-
French Italian HHT network. Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia
-
Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S; French Italian HHT network. Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia. Eur J Pediatr 2009;168:135-9.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 135-139
-
-
Poisson, A.1
Vasdev, A.2
Brunelle, F.3
Plauchu, H.4
Dupuis-Girod, S.5
-
27
-
-
20944446296
-
Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age
-
Review of 50 consecutive patients aged 1 day-60 years
-
Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology 2005;47:711-20.
-
(2005)
Neuroradiology
, vol.47
, pp. 711-720
-
-
Krings, T.1
Ozanne, A.2
Chng, S.M.3
Alvarez, H.4
Rodesch, G.5
Lasjaunias, P.L.6
-
28
-
-
33845654832
-
Spinal subdural hematoma: A preeclamptic patient with a spinal arteriovenous malformation
-
Abut Y, Erkalp K, Bay B. Spinal subdural hematoma: a preeclamptic patient with a spinal arteriovenous malformation. Anesth Analg 2006;103:1610.
-
(2006)
Anesth Analg
, vol.103
, pp. 1610
-
-
Abut, Y.1
Erkalp, K.2
Bay, B.3
-
29
-
-
0022263312
-
Paraplegia caused by spinal angioma-possible association with epidural analgesia
-
Hirsch NP, Child CS, Wijetilleka SA. Paraplegia caused by spinal angioma-possible association with epidural analgesia. Anesth Analg 1985;64:937-40.
-
(1985)
Anesth Analg
, vol.64
, pp. 937-940
-
-
Hirsch, N.P.1
Child, C.S.2
Wijetilleka, S.A.3
-
30
-
-
67349279767
-
Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia
-
Lomax S, Edgcombe H. Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia. Can J Anaesth 2009;56:374-84.
-
(2009)
Can J Anaesth
, vol.56
, pp. 374-384
-
-
Lomax, S.1
Edgcombe, H.2
|