-
1
-
-
46749097116
-
Colorectal polyposes: From phenotype to diagnosis
-
Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract. 2008;204:431-447.
-
(2008)
Pathol Res Pract.
, vol.204
, pp. 431-447
-
-
Jass, J.R.1
-
2
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic Telangiectasia (Rendu-oslerweber syndrome)
-
Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-OslerWeber syndrome). Am J Med Genet. 2000;91:66-67.
-
(2000)
Am J Med Genet.
, vol.91
, pp. 66-67
-
-
Shovlin, C.L.1
Guttmacher, A.E.2
Buscarini, E.3
-
3
-
-
34249796129
-
Hereditary hemorrhagic Telangiectasia. Genetics, pathogenesis, clinical manifestation and management
-
Stuhrmann M, El-Harith el-HA. Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management. Saudi Med J. 2007;28:11-21.
-
(2007)
Saudi Med J.
, vol.28
, pp. 11-21
-
-
Stuhrmann, M.1
El-Harith, E.-H.A.2
-
4
-
-
0020510895
-
Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy
-
Baert AL, Casteels-Van Daele M, Broeckx J, Wijndaele L, Wilms G, Eggermont E. Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy. AJR Am J Roentgenol. 1983;141:661-662.
-
(1983)
AJR Am J Roentgenol.
, vol.141
, pp. 661-662
-
-
Baert, A.L.1
Casteels-Van Daele, M.2
Broeckx, J.3
Wijndaele, L.4
Wilms, G.5
Eggermont, E.6
-
5
-
-
36348937214
-
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
-
Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702-709.
-
(2007)
J Med Genet.
, vol.44
, pp. 702-709
-
-
Aretz, S.1
Stienen, D.2
Uhlhaas, S.3
-
6
-
-
75449083190
-
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
-
Gallione C, Aylsworth AS, Beis J, et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A. 2010;152A:333-339.
-
(2010)
Am J Med Genet A.
, vol.152 A
, pp. 333-339
-
-
Gallione, C.1
Aylsworth, A.S.2
Beis, J.3
-
7
-
-
77956014553
-
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic Telangiectasia
-
Iyer NK, Burke CA, Leach BH, Parambil JG. SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. Thorax. 2010;65:745-746.
-
(2010)
Thorax.
, vol.65
, pp. 745-746
-
-
Iyer, N.K.1
Burke, C.A.2
Leach, B.H.3
Parambil, J.G.4
-
8
-
-
34347221599
-
Risk of colorectal cancer in juvenile polyposis
-
Brosens LA, van Hattem A, Hylind LM, et al. Risk of colorectal cancer in juvenile polyposis. Gut. 2007;56:965-967.
-
(2007)
Gut.
, vol.56
, pp. 965-967
-
-
Brosens, L.A.1
Van Hattem, A.2
Hylind, L.M.3
-
10
-
-
0031673225
-
The risk of gastrointestinal carcinoma in familial juvenile polyposis
-
Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998;5:751-756.
-
(1998)
Ann Surg Oncol.
, vol.5
, pp. 751-756
-
-
Howe, J.R.1
Mitros, F.A.2
Summers, R.W.3
-
11
-
-
13744254454
-
Colonic surgery in patients with juvenile polyposis syndrome: A case series
-
discussion 55
-
Oncel M, Church JM, Remzi FH, Fazio VW. Colonic surgery in patients with juvenile polyposis syndrome: a case series. Dis Colon Rectum. 2005;48:49-55; discussion 55.
-
(2005)
Dis Colon Rectum.
, vol.48
, pp. 49-55
-
-
Oncel, M.1
Church, J.M.2
Remzi, F.H.3
Fazio, V.W.4
-
12
-
-
84866255747
-
Juvenile polyposis
-
Rossi B, Nakagawa W, et al, eds Sao Paulo, Brasil: Tecmedd
-
Burke CA. et al, Juvenile polyposis. In: Rossi B, Nakagawa W, et al, eds. Cancer of the Colon, Rectum and Anus. Sao Paulo, Brasil: Tecmedd; 2005:631-636.
-
(2005)
Cancer of the Colon, Rectum and Anus.
, pp. 631-636
-
-
Burke, C.A.1
-
13
-
-
0034207787
-
Screening for pulmonary arteriovenous malformations: Contrast echocardiography versus pulse oximetry
-
Oxhøj H, Kjeldsen AD, Nielsen G. Screening for pulmonary arteriovenous malformations: contrast echocardiography versus pulse oximetry. Scand Cardiovasc J. 2000;34:281-285.
-
(2000)
Scand Cardiovasc J.
, vol.34
, pp. 281-285
-
-
Oxhøj, H.1
Kjeldsen, A.D.2
Nielsen, G.3
-
14
-
-
0035150362
-
Contrast echocardiography for detection of pulmonary arteriovenous malformations
-
Nanthakumar K, Graham AT, Robinson TI, 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.T.2
Robinson, T.I.3
-
15
-
-
34848865319
-
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifes 76 different mutations (24 novel). Comparison with other European studies
-
Olivieri C, Pagella F, Semino L, et al. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifes 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet. 2007;52:820-829.
-
(2007)
J Hum Genet.
, vol.52
, pp. 820-829
-
-
Olivieri, C.1
Pagella, F.2
Semino, L.3
-
16
-
-
2142703735
-
Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic Telangiectasia
-
Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med. 2004;169:994-1000.
-
(2004)
Am J Respir Crit Care Med.
, vol.169
, pp. 994-1000
-
-
Cottin, V.1
Plauchu, H.2
Bayle, J.Y.3
Barthelet, M.4
Revel, D.5
Cordier, J.F.6
-
17
-
-
54049108038
-
Digital subtraction pulmonary arteriography versus multidetector CT in the detection of pulmonary arteriovenous malformations
-
Nawaz A, Litt HI, Stavropoulos SW, et al. Digital subtraction pulmonary arteriography versus multidetector CT in the detection of pulmonary arteriovenous malformations. J Vasc Interv Radiol. 2008;19:1582-1588.
-
(2008)
J Vasc Interv Radiol.
, vol.19
, pp. 1582-1588
-
-
Nawaz, A.1
Litt, H.I.2
Stavropoulos, S.W.3
-
18
-
-
0036363130
-
Intracranial hemorrhage in infants and children with hereditary hemorrhagic Telangiectasia (Osler-weber-rendu syndrome)
-
Morgan T, McDonald J, Anderson C, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics. 2002; 109:E12.
-
(2002)
Pediatrics.
, vol.109
-
-
Morgan, T.1
McDonald, J.2
Anderson, C.3
-
19
-
-
12144286738
-
A combined syndrome of juvenile polyposis and hereditary haemorrhagic Telangiectasia associated with mutations in MADH4 (SMAD4)
-
Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated 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
-
21
-
-
27744511296
-
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
-
Sweet K, Willis J, Zhou X P, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA. 2005;294:2465-2473.
-
(2005)
JAMA
, vol.294
, pp. 2465-2473
-
-
Sweet, K.1
Willis, J.2
Zhou X, P.3
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