-
1
-
-
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, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37:275-281. (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..
-
2
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-β receptor
-
DOI 10.1056/NEJMoa055695
-
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355:788-798. (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..
-
3
-
-
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, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006; 27:770-777. (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
-
4
-
-
73949113485
-
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
-
Attias D, Stheneur C, Roy C, et al. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 2009; 120:2541-2549.
-
(2009)
Circulation
, vol.120
, pp. 2541-2549
-
-
Attias, D.1
Stheneur, C.2
Roy, C.3
-
5
-
-
63849302971
-
Mitral valve prolapse in Marfan syndrome: An old topic revisited
-
Taub CC, Stoler JM, Perez-Sanz T, et al. Mitral valve prolapse in Marfan syndrome: an old topic revisited. Echocardiography 2009; 26:357-364.
-
(2009)
Echocardiography
, vol.26
, pp. 357-364
-
-
Taub, C.C.1
Stoler, J.M.2
Perez-Sanz, T.3
-
6
-
-
77953662342
-
Impaired systolic function in Loeys-Dietz syndrome: A novel cardiomyopathy?
-
Eckman PM, Hsich E, Rodriguez ER, et al. Impaired systolic function in Loeys-Dietz syndrome: A novel cardiomyopathy? Circ Heart Fail 2009; 2:707-708.
-
(2009)
Circ Heart Fail
, vol.2
, pp. 707-708
-
-
Eckman, P.M.1
Hsich, E.2
Rodriguez, E.R.3
-
7
-
-
70350651190
-
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability
-
Jamsheer A, Henggeler C, Wierzba J, etal.A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. J Appl Genet 2009; 50:405-410.
-
(2009)
J Appl Genet
, vol.50
, pp. 405-410
-
-
Jamsheer, A.1
Henggeler, C.2
Wierzba, J.3
-
8
-
-
77950401077
-
Germline TGF-beta receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome
-
Kirmani S, Tebben PJ, Lteif AN, et al. Germline TGF-beta receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome. Am J Med Genet A 2010; 152A:1016-1019.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1016-1019
-
-
Kirmani, S.1
Tebben, P.J.2
Lteif, A.N.3
-
9
-
-
75449094019
-
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B
-
Muramatsu Y, Kosho T, Magota M, et al. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. Am J Med Genet A 2010; 152A:417-421.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 417-421
-
-
Muramatsu, Y.1
Kosho, T.2
Magota, M.3
-
10
-
-
58149242697
-
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome
-
Aalberts JJ,van den Berg MP, Bergman JE, 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
-
-
Jjvan Den, A.1
Berg, M.P.2
Bergman, J.E.3
-
11
-
-
72849137875
-
Loeys-Dietz syndrome type i and type II: Clinical findings and novel mutations in two Italian patients
-
Drera B, Ritelli M, Zoppi N, et al. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis 2009; 4:24.
-
(2009)
Orphanet J Rare Dis
, vol.4
, pp. 24
-
-
Drera, B.1
Ritelli, M.2
Zoppi, N.3
-
12
-
-
34248149387
-
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period
-
DOI 10.1542/peds.2006-2886
-
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-e1202. (Pubitemid 46715696)
-
(2007)
Pediatrics
, vol.119
, Issue.5
-
-
Yetman, A.T.1
Beroukhim, R.S.2
Ivy, D.D.3
Manchester, D.4
-
13
-
-
55349129650
-
Evolution of the face in Loeys-Dietz syndrome type II: Longitudinal observations from infancy in seven cases
-
Ades LC. Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. Clin Dysmorphol 2008; 17:243-248.
-
(2008)
Clin Dysmorphol
, vol.17
, pp. 243-248
-
-
Ades, L.C.1
-
14
-
-
70350763862
-
Loeys-Dietz syndrome in pregnancy: A case description and report of a novel mutation
-
Gutman G, Baris HN, Hirsch R, et al. Loeys-Dietz syndrome in pregnancy: A case description and report of a novel mutation. Fetal Diagn Ther 2009; 26:35-37.
-
(2009)
Fetal Diagn Ther
, vol.26
, pp. 35-37
-
-
Gutman, G.1
Baris, H.N.2
Hirsch, R.3
-
15
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
DOI 10.1038/ng1392
-
Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36:855-860. (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..
-
16
-
-
23044438103
-
Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections
-
DOI 10.1161/CIRCULATIONAHA.105.537340
-
Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005; 112:513-520. (Pubitemid 41060791)
-
(2005)
Circulation
, vol.112
, Issue.4
, pp. 513-520
-
-
Pannu, H.1
Fadulu, V.T.2
Chang, J.3
Lafont, A.4
Hasham, S.N.5
Sparks, E.6
Giampietro, P.F.7
Zaleski, C.8
Estrera, A.L.9
Safi, H.J.10
Shete, S.11
Willing, M.C.12
Raman, C.S.13
Milewicz, D.M.14
-
17
-
-
29644441249
-
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects
-
DOI 10.1038/sj.ejhg.5201502, PII 5201502
-
Disabella E, Grasso M, Marziliano N, et al. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. Eur J Hum Genet 2006; 14:34-38. (Pubitemid 43019081)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.1
, pp. 34-38
-
-
Disabella, E.1
Grasso, M.2
Marziliano, N.3
Ansaldi, S.4
Lucchelli, C.5
Porcu, E.6
Tagliani, M.7
Pilotto, A.8
Diegoli, M.9
Lanzarini, L.10
Malattia, C.11
Pelliccia, A.12
Ficcadenti, A.13
Gabrielli, O.14
Arbustini, E.15
-
18
-
-
0030300115
-
MADR2 is a substrate of the TGFβ receptor and its phosphorylation is required for nuclear accumulation and signaling
-
DOI 10.1016/S0092-8674(00)81817-6
-
Macias-Silva M, Abdollah S, Hoodless PA, et al. MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling. Cell 1996; 87:1215-1224. (Pubitemid 27010105)
-
(1996)
Cell
, vol.87
, Issue.7
, pp. 1215-1224
-
-
Macias-Silva, M.1
Abdollah, S.2
Hoodless, P.A.3
Pirone, R.4
Attisano, L.5
Wrana, J.L.6
-
19
-
-
0028170226
-
Mechanism of activation of the TGF-beta receptor
-
DOI 10.1038/370341a0
-
Wrana JL, Attisano L, Wieser R, et al. Mechanism of activation of the TGF-beta receptor. Nature 1994; 370:341-347. (Pubitemid 2110860)
-
(1994)
Nature
, vol.370
, Issue.6488
, pp. 341-347
-
-
Wrana, J.L.1
Attisano, L.2
Wieser, R.3
Ventura, F.4
Massague, J.5
-
20
-
-
0030690337
-
Dual role of the Smad4/DPC4 tumor suppressor in TGFβ-inducible transcriptional complexes
-
Liu F, Pouponnot C, Massague J. Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. Genes Dev 1997; 11:3157-3167. (Pubitemid 27528056)
-
(1997)
Genes and Development
, vol.11
, Issue.23
, pp. 3157-3167
-
-
Liu, F.1
Pouponnot, C.2
Massague, J.3
-
21
-
-
0037373277
-
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
-
Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33:407-411.
-
(2003)
Nat Genet
, vol.33
, pp. 407-411
-
-
Neptune, E.R.1
Frischmeyer, P.A.2
Arking, D.E.3
-
22
-
-
60249085947
-
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS)
-
Maleszewski JJ, Miller DV, Lu J, et al. Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). Am J Surg Pathol 2009; 33:194-201.
-
(2009)
Am J Surg Pathol
, vol.33
, pp. 194-201
-
-
Maleszewski, J.J.1
Miller, D.V.2
Lu, J.3
-
23
-
-
69749113581
-
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
-
Tran-Fadulu V, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet 2009; 46:607-613.
-
(2009)
J Med Genet
, vol.46
, pp. 607-613
-
-
Tran-Fadulu, V.1
Pannu, H.2
Kim, D.H.3
-
24
-
-
57149116772
-
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome
-
DOI 10.1002/ajmg.a.32567
-
Watanabe Y, Sakai H, Nishimura A, et al. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. Am J Med Genet A 2008; 146A:3070-3074. (Pubitemid 352774648)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.23
, pp. 3070-3074
-
-
Watanabe, Y.1
Sakai, H.2
Nishimura, A.3
Miyake, N.4
Saitsu, H.5
Mizuguchi, T.6
Matsumoto, N.7
-
25
-
-
33846370126
-
Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease
-
discussion S785-S790
-
Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007; 83:S757-S763; discussion S785-S790.
-
(2007)
Ann Thorac Surg
, vol.83
-
-
Williams, J.A.1
Loeys, B.L.2
Nwakanma, L.U.3
-
26
-
-
70349218593
-
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1
-
Rodrigues VJ, Elsayed S, Loeys BL, et al. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 2009; 30:1614-1619.
-
(2009)
AJNR Am J Neuroradiol
, vol.30
, pp. 1614-1619
-
-
Rodrigues, V.J.1
Elsayed, S.2
Loeys, B.L.3
-
27
-
-
33746253853
-
Long-term results of aortic valve-sparing operations for aortic root aneurysm
-
DOI 10.1016/j.jtcvs.2006.03.053, PII S0022522306006908
-
David TE, Feindel CM, Webb GD, et al. Long-term results of aortic valve-sparing operations for aortic root aneurysm. J Thorac Cardiovasc Surg 2006; 132:347-354. (Pubitemid 44092855)
-
(2006)
Journal of Thoracic and Cardiovascular Surgery
, vol.132
, Issue.2
, pp. 347-354
-
-
David, T.E.1
Feindel, C.M.2
Webb, G.D.3
Colman, J.M.4
Armstrong, S.5
Maganti, M.6
-
28
-
-
67349096313
-
Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome
-
discussion 1332-1333
-
Everitt MD, Pinto N, Hawkins JA, et al. Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome. JThorac Cardiovasc Surg 2009; 137:1327-1332; discussion 1332-1333.
-
(2009)
JThorac Cardiovasc Surg
, vol.137
, pp. 1327-1332
-
-
Everitt, M.D.1
Pinto, N.2
Hawkins, J.A.3
-
29
-
-
33748746933
-
Nine-Year Single Center Experience With Cervical Mediastinoscopy: Complications and False Negative Rate
-
DOI 10.1016/j.athoracsur.2006.05.023, PII S0003497506009465
-
Lemaire A, Nikolic I, Petersen T, et al. Nine-year single center experience with cervical mediastinoscopy: complications and false negative rate. Ann Thorac Surg 2006; 82:1185-1189; discussion 1189-1190. (Pubitemid 44402349)
-
(2006)
Annals of Thoracic Surgery
, vol.82
, Issue.4
, pp. 1185-1190
-
-
Lemaire, A.1
Nikolic, I.2
Petersen, T.3
Haney, J.C.4
Toloza, E.M.5
Harpole Jr., D.H.6
D'Amico, T.A.7
Burfeind, W.R.8
-
30
-
-
77749274071
-
Two-stage total aortic replacement for Loeys-Dietz syndrome
-
Williams ML, Wechsler SB, Hughes GC. Two-stage total aortic replacement for Loeys-Dietz syndrome. J Card Surg 2010; 25:223-224.
-
(2010)
J Card Surg
, vol.25
, pp. 223-224
-
-
Williams, M.L.1
Wechsler, S.B.2
Hughes, G.C.3
-
32
-
-
74449088237
-
Innovations in aortic disease: The ascending aorta and aortic arch
-
Augoustides JG, Andritsos M. Innovations in aortic disease: the ascending aorta and aortic arch. J Cardiothorac Vasc Anesth 2010; 24:198-207.
-
(2010)
J Cardiothorac Vasc Anesth
, vol.24
, pp. 198-207
-
-
Augoustides, J.G.1
Andritsos, M.2
-
33
-
-
67651097914
-
Aortic decision-making in the Loeys-Dietz syndrome: Aortic root aneurysm and a normal-caliber ascending aorta and aortic arch
-
Augoustides JG, Plappert T, Bavaria JE. Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. J Thorac Cardiovasc Surg 2009; 138:502-503.
-
(2009)
J Thorac Cardiovasc Surg
, vol.138
, pp. 502-503
-
-
Augoustides, J.G.1
Plappert, T.2
Bavaria, J.E.3
-
34
-
-
77949483444
-
Aortic decision making in Loeys-Dietz syndrome
-
author reply 1089
-
Jayle C, Hajj-Chahine J, Corbi P. Aortic decision making in Loeys-Dietz syndrome. J Thorac Cardiovasc Surg 2010; 139:1088-1089; author reply 1089.
-
(2010)
J Thorac Cardiovasc Surg
, vol.139
, pp. 1088-1089
-
-
Jayle, C.1
Hajj-Chahine, J.2
Corbi, P.3
-
35
-
-
38649094252
-
Recent advances in understanding Marfan syndrome: Should we now treat surgical patients with losartan?
-
DOI 10.1016/j.jtcvs.2007.08.047, PII S0022522307015462
-
Matt P, Habashi J, Carrel T, et al. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? J Thorac Cardiovasc Surg 2008; 135:389-394. (Pubitemid 351173114)
-
(2008)
Journal of Thoracic and Cardiovascular Surgery
, vol.135
, Issue.2
, pp. 389-394
-
-
Matt, P.1
Habashi, J.2
Carrel, T.3
Cameron, D.E.4
Van Eyk, J.E.5
Dietz, H.C.6
|