-
1
-
-
10744231927
-
Characterizing the young patient with aortic dissection: Results from the international registry of aortic dissection (IRAD)
-
DOI 10.1016/j.jacc.2003.08.054
-
Januzzi JL, Isselbacher EM, Fattori R, Cooper JV, Smith DE, Fang J, et al. Characterizing the young patient with aortic dissection: results from the International Registry of Aortic Dissection (IRAD). J Am Coll Cardiol 2004;43:665-9. (Pubitemid 38229542)
-
(2004)
Journal of the American College of Cardiology
, vol.43
, Issue.4
, pp. 665-669
-
-
Januzzi, J.L.1
Isselbacher, E.M.2
Fattori, R.3
Cooper, J.V.4
Smith, D.E.5
Fang, J.6
Eagle, K.A.7
Mehta, R.H.8
Nienaber, C.A.9
Pape, L.A.10
-
2
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
DOI 10.1038/ng1392
-
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-60. (Pubitemid 39014103)
-
(2004)
Nature Genetics
, vol.36
, Issue.8
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Beroud, G.2
Akiyama, T.3
Abifadel, M.4
Harada, N.5
Morisaki, T.6
Allard, D.7
Varret, M.8
Claustres, M.9
Morisaki, H.10
Ihara, M.11
Kinoshita, A.12
Yoshiura, K.-I.13
Junien, C.14
Kajii, T.15
Jondeau, G.16
Ohta, T.17
Kishino, T.18
Furukawa, Y.19
Nakamura, Y.20
Niikawa, N.21
Boileau, C.22
Matsumoto, N.23
more..
-
3
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
DOI 10.1038/ng1511
-
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81. (Pubitemid 41716254)
-
(2005)
Nature Genetics
, vol.37
, Issue.3
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
Judge, D.P.4
Podowski, M.5
Holm, T.6
Meyers, J.7
Leitch, C.C.8
Katsanis, N.9
Sharifi, N.10
Xu, F.L.11
Myers, L.A.12
Spevak, P.J.13
Cameron, D.E.14
De Backer, J.15
Hellemans, J.16
Chen, Y.17
Davis, E.C.18
Webb, C.L.19
Kress, W.20
Coucke, P.21
Rifkin, D.B.22
De Paepe, A.M.23
Dietz, H.C.24
more..
-
4
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-β receptor
-
DOI 10.1056/NEJMoa055695
-
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98. (Pubitemid 44285584)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.8
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
Callewaert, B.L.4
Thomas, G.H.5
Pannu, H.6
De Backer, J.F.7
Oswald, G.L.8
Symoens, S.9
Manouvrier, S.10
Roberts, A.E.11
Faravelli, F.12
Alba Greco, M.13
Pyeritz, R.E.14
Milewicz, D.M.15
Coucke, P.J.16
Cameron, D.E.17
Braverman, A.C.18
Byers, P.H.19
De Paepe, A.M.20
Dietz, H.C.21
more..
-
5
-
-
33846370126
-
Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease
-
Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83:S757-63; discussion S85-90.
-
(2007)
Ann Thorac Surg
, vol.83
-
-
Williams, J.A.1
Loeys, B.L.2
Nwakanma, L.U.3
Dietz, H.C.4
Spevak, P.J.5
Patel, N.D.6
-
6
-
-
34547590052
-
Phenotypic heterogeneity of marfan-like connective tissue disorders associated with mutations in the transforming growth factor-β receptor genes
-
DOI 10.1253/circj.71.1305
-
Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, et al. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. Circ J 2007;71:1305-9. (Pubitemid 47195351)
-
(2007)
Circulation Journal
, vol.71
, Issue.8
, pp. 1305-1309
-
-
Akutsu, K.1
Morisaki, H.2
Takeshita, S.3
Sakamoto, S.4
Tamori, Y.5
Yoshimuta, T.6
Yokoyama, N.7
Nonogi, H.8
Ogino, H.9
Morisaki, T.10
-
7
-
-
58149242697
-
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome
-
Alberts JJ, van den Berg MP, Bergman JE, du Marchie Sarvaas GJ, Post JG, van Unen H, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J 2008;16:299-304.
-
(2008)
Neth Heart J
, vol.16
, pp. 299-304
-
-
Alberts, J.J.1
Van Den Berg, M.P.2
Bergman, J.E.3
Du Marchie Sarvaas, G.J.4
Post, J.G.5
Van Unen, H.6
-
8
-
-
33747030405
-
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
-
DOI 10.1002/humu.20354
-
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006;27:770-7. (Pubitemid 44205070)
-
(2006)
Human Mutation
, vol.27
, Issue.8
, pp. 770-777
-
-
Singh, K.K.1
Rommel, K.2
Mishra, A.3
Karck, M.4
Haverich, A.5
Schmidtke, J.6
Arslan-Kirchner, M.7
-
9
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2- R
-
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-26. (Pubitemid 26131122)
-
(1996)
American Journal of Medical Genetics
, vol.62
, Issue.4
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.M.4
Pyeritz, R.E.5
-
10
-
-
34250886959
-
Loeys-Dietz syndrome: MDCT angiography findings
-
Johnson PT, Chen JK, Loeys BL, Dietz HC, Fishman EK. Loeys-Dietz syndrome: MDCT angiography fi ndings. AJR Am J Roentgenol 2007;189:W29-35.
-
(2007)
AJR Am J Roentgenol
, vol.189
-
-
Johnson, P.T.1
Chen, J.K.2
Loeys, B.L.3
Dietz, H.C.4
Fishman, E.K.5
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