-
2
-
-
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, 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;4:1983-5.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1983-1985
-
-
McAllister, K.A.1
Baldwin, M.A.2
Thukkani, A.K.3
-
3
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson DW, Berg JN, Baldwin MA, 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
-
4
-
-
0030047241
-
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin?
-
Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996;33:256-7.
-
(1996)
J Med Genet
, vol.33
, pp. 256-257
-
-
Berg, J.N.1
Guttmacher, A.E.2
Marchuk, D.A.3
Porteous, M.E.4
-
5
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
-
Shovlin CL, Guttmacher AE, Buscarini E, 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
-
6
-
-
0033953054
-
Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia
-
Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415-8.
-
(2000)
Am J Gastroenterol
, vol.95
, pp. 415-418
-
-
Kjeldsen, A.D.1
Kjeldsen, J.2
-
7
-
-
0142214793
-
A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome
-
Rozen P, Samuel Z, Brazowski E. A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome. Am J Gastroenterol 2003;98:2317-20.
-
(2003)
Am J Gastroenterol
, vol.98
, pp. 2317-2320
-
-
Rozen, P.1
Samuel, Z.2
Brazowski, E.3
-
11
-
-
0020084164
-
Familial juvenile polyposis coli: A clinical and pathologic study of a large kindred
-
Grotsky HW, Rickert RR, Smith WD, Newsome JF. Familial juvenile polyposis coli: a clinical and pathologic study of a large kindred. Gastroenterology 1982;82:494-501.
-
(1982)
Gastroenterology
, vol.82
, pp. 494-501
-
-
Grotsky, H.W.1
Rickert, R.R.2
Smith, W.D.3
Newsome, J.F.4
-
13
-
-
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;5:751-6.
-
(1998)
Ann Surg Oncol
, vol.5
, pp. 751-756
-
-
Howe, J.R.1
Mitros, F.A.2
Summers, R.W.3
-
14
-
-
0028891955
-
Familial juvenile polyposis: Patterns of recurrence and implications for surgical management
-
Scott-Conner CE, Hausmann M, Hall TJ, Skelton DS, Anglin BL, Subramony C. Familial juvenile polyposis: patterns of recurrence and implications for surgical management. J Am Coll Surg 1995;181:407-13.
-
(1995)
J Am Coll Surg
, vol.181
, pp. 407-413
-
-
Scott-Conner, C.E.1
Hausmann, M.2
Hall, T.J.3
Skelton, D.S.4
Anglin, B.L.5
Subramony, C.6
-
15
-
-
0032524069
-
Mutations in the SMAD4/DPC4 gene in juvenile polyposis
-
Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086-8.
-
(1998)
Science
, vol.280
, pp. 1086-1088
-
-
Howe, J.R.1
Roth, S.2
Ringold, J.C.3
-
16
-
-
0034611611
-
Haploid loss of the tumor suppressor Smad4/Dpc4 initiates gastric polyposis and cancer in mice
-
Xu X, Brodie SG, Yang X, et al. Haploid loss of the tumor suppressor Smad4/Dpc4 initiates gastric polyposis and cancer in mice. Oncogene 2000;19:1868-74.
-
(2000)
Oncogene
, vol.19
, pp. 1868-1874
-
-
Xu, X.1
Brodie, S.G.2
Yang, X.3
-
17
-
-
0034972978
-
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
-
Howe JR, Bair JL, Sayed MG, et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001;28:184-7.
-
(2001)
Nat Genet
, vol.28
, pp. 184-187
-
-
Howe, J.R.1
Bair, J.L.2
Sayed, M.G.3
-
18
-
-
3142746721
-
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
-
Howe JR, Sayed MG, Ahmed AF, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet 2004;41:484-91.
-
(2004)
J Med Genet
, vol.41
, pp. 484-491
-
-
Howe, J.R.1
Sayed, M.G.2
Ahmed, A.F.3
-
19
-
-
0036842005
-
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis
-
Sayed MG, Ahmed AF, Ringold JR, et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Ann Surg Oncol 2002;9:901-6.
-
(2002)
Ann Surg Oncol
, vol.9
, pp. 901-906
-
-
Sayed, M.G.1
Ahmed, A.F.2
Ringold, J.R.3
-
20
-
-
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;363:852-9.
-
(2004)
Lancet
, vol.363
, pp. 852-859
-
-
Gallione, C.J.1
Repetto, G.M.2
Legius, E.3
-
21
-
-
0022480817
-
The nutritional consequences and neoplastic potential of juvenile polyposis coli
-
Gilinsky NH, Elliot MS, Price SK, Wright JP. The nutritional consequences and neoplastic potential of juvenile polyposis coli. Dis Colon Rectum 1986;29:417-20.
-
(1986)
Dis Colon Rectum
, vol.29
, pp. 417-420
-
-
Gilinsky, N.H.1
Elliot, M.S.2
Price, S.K.3
Wright, J.P.4
-
22
-
-
0021195925
-
Juvenile polyposis of the colon with atypical adenomatous changes and carcinoma in situ: Report of a case and review of the literature
-
Ramaswamy G, Elhosseiny AA, Tchertkoff V. Juvenile polyposis of the colon with atypical adenomatous changes and carcinoma in situ: report of a case and review of the literature. Dis Colon Rectum 1984;27:393-8.
-
(1984)
Dis Colon Rectum
, vol.27
, pp. 393-398
-
-
Ramaswamy, G.1
Elhosseiny, A.A.2
Tchertkoff, V.3
-
23
-
-
0021261655
-
Familial juvenile polyposis coli: Increased risk of colorectal cancer
-
Jarvinen H, Franssila KO. Familial juvenile polyposis coli: increased risk of colorectal cancer. Gut 1984;25:792-800.
-
(1984)
Gut
, vol.25
, pp. 792-800
-
-
Jarvinen, H.1
Franssila, K.O.2
-
24
-
-
0034795917
-
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: Evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers
-
Woodford-Richens KL, Rowan AJ, Poulsom R, et al. Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. Am J Pathol 2001;159:1293-300.
-
(2001)
Am J Pathol
, vol.159
, pp. 1293-1300
-
-
Woodford-Richens, K.L.1
Rowan, A.J.2
Poulsom, R.3
-
25
-
-
0030281252
-
Pulmonary arteriovenous malformations: Diagnosis and transcatheter embolotherapy
-
White RI Jr, Pollak JS, Wirth JA. 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 Jr., R.I.1
Pollak, J.S.2
Wirth, J.A.3
-
26
-
-
0034727052
-
Liver disease in patients with hereditary hemorrhagic telangiectasia
-
Garcia-Tsao G, Korzenik JR, Young L, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:931-6.
-
(2000)
N Engl J Med
, vol.343
, pp. 931-936
-
-
Garcia-Tsao, G.1
Korzenik, J.R.2
Young, L.3
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