-
1
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788-98.
-
(2006)
N Engl J Med
, vol.355
, 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
Greco, M.A.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..
-
2
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275-81.
-
(2005)
Nat Genet
, vol.37
, 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..
-
3
-
-
34250711373
-
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome
-
243.e1
-
Lee RS, Fazel S, Schwarze U, Fleischmann D, Berry GJ, Liang D, Miller DC, Mitchell RS. Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome. J Thorac Cardiovasc Surg. 2007;134:242-3, 243.e1.
-
(2007)
J Thorac Cardiovasc Surg
, vol.134
, pp. 242-243
-
-
Lee, R.S.1
Fazel, S.2
Schwarze, U.3
Fleischmann, D.4
Berry, G.J.5
Liang, D.6
Miller, D.C.7
Mitchell, R.S.8
-
4
-
-
33847639690
-
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation
-
DOI 10.1038/ncpcardio0797, PII NCPCARDIO0797
-
LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med. 2007;4:167-71. (Pubitemid 46358844)
-
(2007)
Nature Clinical Practice Cardiovascular Medicine
, vol.4
, Issue.3
, pp. 167-171
-
-
LeMaire, S.A.1
Pannu, H.2
Tran-Fadulu, V.3
Carter, S.A.4
Coselli, J.S.5
Milewicz, D.M.6
-
5
-
-
33747030405
-
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
-
Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006;27:770-7.
-
(2006)
Hum Mutat
, vol.27
, 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
-
6
-
-
33751315752
-
Fetal aortic root dilation: A prenatal feature of the Loeys-Dietz syndrome
-
Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F. Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. Prenat Diagn. 2006;26:1081-3.
-
(2006)
Prenat Diagn
, vol.26
, pp. 1081-1083
-
-
Viassolo, V.1
Lituania, M.2
Marasini, M.3
Dietz, H.4
Benelli, F.5
Forzano, F.6
Faravelli, F.7
-
7
-
-
34248149387
-
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period
-
Yetman AT, Beroukhim RS, Ivy DD, Manchester D. Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics. 2007;119:e1199-202.
-
(2007)
Pediatrics
, vol.119
-
-
Yetman, A.T.1
Beroukhim, R.S.2
Ivy, D.D.3
Manchester, D.4
-
8
-
-
0014312758
-
The "thumb sign" in children
-
Phila
-
Feingold M. The "thumb sign" in children. Clin Pediatr (Phila). 1968;7:423-4.
-
(1968)
Clin Pediatr
, vol.7
, pp. 423-424
-
-
Feingold, M.1
-
9
-
-
85047692195
-
The wrist sign. A useful physical finding in the Marfan syndrome
-
Walker BA, Murdoch JL. The wrist sign. A useful physical finding in the Marfan syndrome. Arch Intern Med. 1970;126:276-7.
-
(1970)
Arch Intern Med
, vol.126
, pp. 276-277
-
-
Walker, B.A.1
Murdoch, J.L.2
-
10
-
-
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
-
11
-
-
0020420065
-
Bony interorbital distance (BIOD), head size, and level of the cribriform plate relative to orbital height: I. Normal standards for age and sex
-
Costaras M, Pruzansky S, Broadbent BH Jr. Bony interorbital distance (BIOD), head size, and level of the cribriform plate relative to orbital height: I. Normal standards for age and sex. J Craniofac Genet Dev Biol. 1982;2:5-18.
-
(1982)
J Craniofac Genet Dev Biol
, vol.2
, pp. 5-18
-
-
Costaras, M.1
Pruzansky, S.2
Broadbent Jr., B.H.3
|