-
1
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz H.C., Cutting G.R., Pyeritz R.E., Maslen C.L., Sakai L.Y., Corson G.M., et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 6333 (1991 Jul 25) 337-339
-
(1991)
Nature
, vol.352
, Issue.6333
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
-
2
-
-
0027422979
-
Extracellular matrix 4: the elastic fiber
-
Rosenbloom J., Abrams W.R., and Mecham R. Extracellular matrix 4: the elastic fiber. FASEB J 7 13 (1993 Oct) 1208-1218
-
(1993)
FASEB J
, vol.7
, Issue.13
, pp. 1208-1218
-
-
Rosenbloom, J.1
Abrams, W.R.2
Mecham, R.3
-
3
-
-
0031252407
-
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome
-
Pereira L., Andrikopoulos K., Tian J., Lee S.Y., Keene D.R., Ono R., et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 17 2 (1997 Oct) 218-222
-
(1997)
Nat Genet
, vol.17
, Issue.2
, pp. 218-222
-
-
Pereira, L.1
Andrikopoulos, K.2
Tian, J.3
Lee, S.Y.4
Keene, D.R.5
Ono, R.6
-
4
-
-
13044266360
-
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1
-
Pereira L., Lee S.Y., Gayraud B., Andrikopoulos K., Shapiro S.D., Bunton T., et al. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A 96 7 (1999 Mar 30) 3819-3823
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, Issue.7
, pp. 3819-3823
-
-
Pereira, L.1
Lee, S.Y.2
Gayraud, B.3
Andrikopoulos, K.4
Shapiro, S.D.5
Bunton, T.6
-
5
-
-
4043070821
-
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
-
Judge D.P., Biery N.J., Keene D.R., Geubtner J., Myers L., Huso D.L., et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 114 2 (2004 Jul) 172-181
-
(2004)
J Clin Invest
, vol.114
, Issue.2
, pp. 172-181
-
-
Judge, D.P.1
Biery, N.J.2
Keene, D.R.3
Geubtner, J.4
Myers, L.5
Huso, D.L.6
-
6
-
-
0035910615
-
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome
-
Bunton T.E., Biery N.J., Myers L., Gayraud B., Ramirez F., and Dietz H.C. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res 88 1 (2001 Jan 19) 37-43
-
(2001)
Circ Res
, vol.88
, Issue.1
, pp. 37-43
-
-
Bunton, T.E.1
Biery, N.J.2
Myers, L.3
Gayraud, B.4
Ramirez, F.5
Dietz, H.C.6
-
7
-
-
0033982504
-
Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo
-
Dallas S.L., Keene D.R., Bruder S.P., Saharinen J., Sakai L.Y., Mundy G.R., et al. Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo. J Bone Miner Res 15 1 (2000 Jan) 68-81
-
(2000)
J Bone Miner Res
, vol.15
, Issue.1
, pp. 68-81
-
-
Dallas, S.L.1
Keene, D.R.2
Bruder, S.P.3
Saharinen, J.4
Sakai, L.Y.5
Mundy, G.R.6
-
8
-
-
0028885716
-
Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein
-
Dallas S.L., Miyazono K., Skerry T.M., Mundy G.R., and Bonewald L.F. Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. J Cell Biol 131 2 (1995 Oct) 539-549
-
(1995)
J Cell Biol
, vol.131
, Issue.2
, pp. 539-549
-
-
Dallas, S.L.1
Miyazono, K.2
Skerry, T.M.3
Mundy, G.R.4
Bonewald, L.F.5
-
9
-
-
0344721500
-
Latent transforming growth factor-beta binding proteins (LTBPs) - structural extracellular matrix proteins for targeting TGF-beta action
-
Saharinen J., Hyytiainen M., Taipale J., and Keski-Oja J. Latent transforming growth factor-beta binding proteins (LTBPs) - structural extracellular matrix proteins for targeting TGF-beta action. Cytokine Growth Factor Rev 10 2 (1999 Jun) 99-117
-
(1999)
Cytokine Growth Factor Rev
, vol.10
, Issue.2
, pp. 99-117
-
-
Saharinen, J.1
Hyytiainen, M.2
Taipale, J.3
Keski-Oja, J.4
-
10
-
-
0037462678
-
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
-
Isogai Z., Ono R.N., Ushiro S., Keene D.R., Chen Y., Mazzieri R., et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 278 4 (2003 Jan 24) 2750-2757
-
(2003)
J Biol Chem
, vol.278
, Issue.4
, pp. 2750-2757
-
-
Isogai, Z.1
Ono, R.N.2
Ushiro, S.3
Keene, D.R.4
Chen, Y.5
Mazzieri, R.6
-
11
-
-
0037373277
-
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
-
Neptune E.R., Frischmeyer P.A., Arking D.E., Myers L., Bunton T.E., Gayraud B., et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33 3 (2003 Mar) 407-411
-
(2003)
Nat Genet
, vol.33
, Issue.3
, pp. 407-411
-
-
Neptune, E.R.1
Frischmeyer, P.A.2
Arking, D.E.3
Myers, L.4
Bunton, T.E.5
Gayraud, B.6
-
12
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A., Devereux R.B., Dietz H.C., Hennekam R.C., and Pyeritz R.E. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62 4 (1996) 417-426
-
(1996)
Am J Med Genet
, vol.62
, Issue.4
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.4
Pyeritz, R.E.5
-
13
-
-
0035141446
-
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
-
Tiecke F., Katzke S., Booms P., Robinson P.N., Neumann L., Godfrey M., et al. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 9 1 (2001 Jan) 13-21
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.1
, pp. 13-21
-
-
Tiecke, F.1
Katzke, S.2
Booms, P.3
Robinson, P.N.4
Neumann, L.5
Godfrey, M.6
-
14
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
Kainulainen K., Karttunen L., Puhakka L., Sakai L., and Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6 1 (1994 Jan) 64-69
-
(1994)
Nat Genet
, vol.6
, Issue.1
, pp. 64-69
-
-
Kainulainen, K.1
Karttunen, L.2
Puhakka, L.3
Sakai, L.4
Peltonen, L.5
-
15
-
-
0029962419
-
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
-
Putnam E.A., Cho M., Zinn A.B., Towbin J.A., Byers P.H., and Milewicz D.M. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 62 3 (1996 Mar 29) 233-242
-
(1996)
Am J Med Genet
, vol.62
, Issue.3
, pp. 233-242
-
-
Putnam, E.A.1
Cho, M.2
Zinn, A.B.3
Towbin, J.A.4
Byers, P.H.5
Milewicz, D.M.6
-
16
-
-
0031965598
-
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype
-
Black C., Withers A.P., Gray J.R., Bridges A.B., Craig A., Baty D.U., et al. Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. Hum Mutat Suppl. 1 (1998) S198-S200
-
(1998)
Hum Mutat
, Issue.SUPPL. 1
-
-
Black, C.1
Withers, A.P.2
Gray, J.R.3
Bridges, A.B.4
Craig, A.5
Baty, D.U.6
-
17
-
-
34548133577
-
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
-
De Backer J., Loeys B., Leroy B., Coucke P., Dietz H., and De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet 72 3 (2007 Sep) 188-198
-
(2007)
Clin Genet
, vol.72
, Issue.3
, pp. 188-198
-
-
De Backer, J.1
Loeys, B.2
Leroy, B.3
Coucke, P.4
Dietz, H.5
De Paepe, A.6
-
18
-
-
28244441145
-
Marfan's syndrome
-
Judge D.P., and Dietz H.C. Marfan's syndrome. Lancet 366 9501 (2005 Dec 3) 1965-1976
-
(2005)
Lancet
, vol.366
, Issue.9501
, pp. 1965-1976
-
-
Judge, D.P.1
Dietz, H.C.2
-
19
-
-
0024396654
-
Two-dimensional echocardiographic aortic root dimensions in normal children and adults
-
Roman M.J., Devereux R.B., Kramer-Fox R., and O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 64 8 (1989) 507-512
-
(1989)
Am J Cardiol
, vol.64
, Issue.8
, pp. 507-512
-
-
Roman, M.J.1
Devereux, R.B.2
Kramer-Fox, R.3
O'Loughlin, J.4
-
20
-
-
0014179993
-
Correlation of visco-elastic properties with microscopic structure of large arteries. IV. Thermal responses of collagen, elastin, smooth muscle, and intact arteries
-
Apter J.T. Correlation of visco-elastic properties with microscopic structure of large arteries. IV. Thermal responses of collagen, elastin, smooth muscle, and intact arteries. Circ Res 21 6 (1967 Dec) 901-918
-
(1967)
Circ Res
, vol.21
, Issue.6
, pp. 901-918
-
-
Apter, J.T.1
-
21
-
-
0027352682
-
Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations
-
Pyeritz R.E. Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations. Semin Thorac Cardiovasc Surg 5 1 (1993 Jan) 11-16
-
(1993)
Semin Thorac Cardiovasc Surg
, vol.5
, Issue.1
, pp. 11-16
-
-
Pyeritz, R.E.1
-
22
-
-
0027375360
-
Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome
-
Roman M.J., Rosen S.E., Kramer-Fox R., and Devereux R.B. Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol 22 5 (1993) 1470-1476
-
(1993)
J Am Coll Cardiol
, vol.22
, Issue.5
, pp. 1470-1476
-
-
Roman, M.J.1
Rosen, S.E.2
Kramer-Fox, R.3
Devereux, R.B.4
-
23
-
-
0028354261
-
The natural history of thoracic aortic aneurysms
-
[discussion 32-3]
-
Dapunt O.E., Galla J.D., Sadeghi A.M., Lansman S.L., Mezrow C.K., de Asla R.A., et al. The natural history of thoracic aortic aneurysms. J Thorac Cardiovasc Surg 107 5 (1994 May) 1323-1332 [discussion 32-3]
-
(1994)
J Thorac Cardiovasc Surg
, vol.107
, Issue.5
, pp. 1323-1332
-
-
Dapunt, O.E.1
Galla, J.D.2
Sadeghi, A.M.3
Lansman, S.L.4
Mezrow, C.K.5
de Asla, R.A.6
-
24
-
-
0012020324
-
Genetics and cardiovascular disease
-
Braunwald E. (Ed), Saunders, Philadelphia
-
Pyeritz R.E. Genetics and cardiovascular disease. In: Braunwald E. (Ed). Cardiovascular disease (1992), Saunders, Philadelphia 1641-1643
-
(1992)
Cardiovascular disease
, pp. 1641-1643
-
-
Pyeritz, R.E.1
-
25
-
-
0032846248
-
Survival and complication free survival in Marfan's syndrome: implications of current guidelines
-
Groenink M., Lohuis T.A., Tijssen J.G., Naeff M.S., Hennekam R.C., van der Wall E.E., et al. Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart 82 4 (1999) 499-504
-
(1999)
Heart
, vol.82
, Issue.4
, pp. 499-504
-
-
Groenink, M.1
Lohuis, T.A.2
Tijssen, J.G.3
Naeff, M.S.4
Hennekam, R.C.5
van der Wall, E.E.6
-
26
-
-
0029973288
-
Aortic root complications in Marfan's syndrome: identification of a lower risk group
-
Legget M.E., Unger T.A., O'Sullivan C.K., Zwink T.R., Bennett R.L., Byers P.H., et al. Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart 75 4 (1996 Apr) 389-395
-
(1996)
Heart
, vol.75
, Issue.4
, pp. 389-395
-
-
Legget, M.E.1
Unger, T.A.2
O'Sullivan, C.K.3
Zwink, T.R.4
Bennett, R.L.5
Byers, P.H.6
-
27
-
-
0028789184
-
Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival
-
Silverman D.I., Gray J., Roman M.J., Bridges A., Burton K., Boxer M., et al. Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol 26 4 (1995) 1062-1067
-
(1995)
J Am Coll Cardiol
, vol.26
, Issue.4
, pp. 1062-1067
-
-
Silverman, D.I.1
Gray, J.2
Roman, M.J.3
Bridges, A.4
Burton, K.5
Boxer, M.6
-
28
-
-
0033602818
-
Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome
-
Jondeau G., Boutouyrie P., Lacolley P., Laloux B., Dubourg O., Bourdarias J.P., et al. Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. Circulation 99 20 (1999) 2677-2681
-
(1999)
Circulation
, vol.99
, Issue.20
, pp. 2677-2681
-
-
Jondeau, G.1
Boutouyrie, P.2
Lacolley, P.3
Laloux, B.4
Dubourg, O.5
Bourdarias, J.P.6
-
29
-
-
0028954079
-
Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome
-
Adams J.N., Brooks M., Redpath T.W., Smith F.W., Dean J., Gray J., et al. Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome. Br Heart J 73 3 (1995) 265-269
-
(1995)
Br Heart J
, vol.73
, Issue.3
, pp. 265-269
-
-
Adams, J.N.1
Brooks, M.2
Redpath, T.W.3
Smith, F.W.4
Dean, J.5
Gray, J.6
-
30
-
-
0035059871
-
Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping
-
Groenink M., de Roos A., Mulder B.J., Verbeeten Jr. B., Timmermans J., Zwinderman A.H., et al. Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping. Radiology 219 2 (2001) 535-540
-
(2001)
Radiology
, vol.219
, Issue.2
, pp. 535-540
-
-
Groenink, M.1
de Roos, A.2
Mulder, B.J.3
Verbeeten Jr., B.4
Timmermans, J.5
Zwinderman, A.H.6
-
31
-
-
0026550134
-
The Marfan syndrome: cardiovascular physical findings and diagnostic correlates
-
Hirata K., Triposkiadis F., Sparks E., Bowen J., Boudoulas H., and Wooley C.F. The Marfan syndrome: cardiovascular physical findings and diagnostic correlates. Am Heart J 123 3 (1992) 743-752
-
(1992)
Am Heart J
, vol.123
, Issue.3
, pp. 743-752
-
-
Hirata, K.1
Triposkiadis, F.2
Sparks, E.3
Bowen, J.4
Boudoulas, H.5
Wooley, C.F.6
-
32
-
-
0028064840
-
Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome
-
Jeremy R.W., Huang H., Hwa J., McCarron H., Hughes C.F., and Richards J.G. Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome. Am J Cardiol 74 4 (1994) 369-373
-
(1994)
Am J Cardiol
, vol.74
, Issue.4
, pp. 369-373
-
-
Jeremy, R.W.1
Huang, H.2
Hwa, J.3
McCarron, H.4
Hughes, C.F.5
Richards, J.G.6
-
33
-
-
20144387581
-
Diagnostic power of aortic elastic properties in young patients with Marfan syndrome
-
Baumgartner D., Baumgartner C., Matyas G., Steinmann B., Loffler-Ragg J., Schermer E., et al. Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. J Thorac Cardiovasc Surg 129 4 (2005 Apr) 730-739
-
(2005)
J Thorac Cardiovasc Surg
, vol.129
, Issue.4
, pp. 730-739
-
-
Baumgartner, D.1
Baumgartner, C.2
Matyas, G.3
Steinmann, B.4
Loffler-Ragg, J.5
Schermer, E.6
-
34
-
-
0020620407
-
Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history
-
Pyeritz R.E., and Wappel M.A. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med 74 5 (1983 May) 797-807
-
(1983)
Am J Med
, vol.74
, Issue.5
, pp. 797-807
-
-
Pyeritz, R.E.1
Wappel, M.A.2
-
35
-
-
33747889618
-
A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome
-
De Backer J., Loeys B., Devos D., Dietz H., De Sutter J., and De Paepe A. A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med 8 7 (2006 Jul) 401-408
-
(2006)
Genet Med
, vol.8
, Issue.7
, pp. 401-408
-
-
De Backer, J.1
Loeys, B.2
Devos, D.3
Dietz, H.4
De Sutter, J.5
De Paepe, A.6
-
36
-
-
0036237906
-
Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion
-
Nollen G.J., van Schijndel K.E., Timmermans J., Groenink M., Barentsz J.O., van der Wall E.E., et al. Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion. Heart 87 5 (2002 May) 470-471
-
(2002)
Heart
, vol.87
, Issue.5
, pp. 470-471
-
-
Nollen, G.J.1
van Schijndel, K.E.2
Timmermans, J.3
Groenink, M.4
Barentsz, J.O.5
van der Wall, E.E.6
-
37
-
-
0001885603
-
Marfan syndrome and related disorders
-
Scriver C.R., Beaudet A., Sly W.S., and Valle D. (Eds)
-
Dietz H.C., and Pyeritz R.E. Marfan syndrome and related disorders. In: Scriver C.R., Beaudet A., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited diseases (1995) 5287-5311
-
(1995)
The metabolic and molecular bases of inherited diseases
, pp. 5287-5311
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
38
-
-
0028876793
-
Marfan syndrome: long-term survival and complications after aortic aneurysm repair
-
Finkbohner R., Johnston D., Crawford E.S., Coselli J., and Milewicz D.M. Marfan syndrome: long-term survival and complications after aortic aneurysm repair. Circulation 91 3 (1995 February 1) 728-733
-
(1995)
Circulation
, vol.91
, Issue.3
, pp. 728-733
-
-
Finkbohner, R.1
Johnston, D.2
Crawford, E.S.3
Coselli, J.4
Milewicz, D.M.5
-
40
-
-
0023915907
-
Marfan's syndrome and isolated aneurysm of the abdominal aorta
-
van Ooijen B. Marfan's syndrome and isolated aneurysm of the abdominal aorta. Br Heart J 59 1 (1988 Jan) 81-84
-
(1988)
Br Heart J
, vol.59
, Issue.1
, pp. 81-84
-
-
van Ooijen, B.1
-
41
-
-
0023912986
-
Isolated descending thoracic aortic aneurysm in Marfan's syndrome
-
Pruzinsky M.S., Katz N.M., Green C.E., and Satler L.F. Isolated descending thoracic aortic aneurysm in Marfan's syndrome. Am J Cardiol 61 13 (1988 May 1) 1159-1160
-
(1988)
Am J Cardiol
, vol.61
, Issue.13
, pp. 1159-1160
-
-
Pruzinsky, M.S.1
Katz, N.M.2
Green, C.E.3
Satler, L.F.4
-
42
-
-
3042577095
-
Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome
-
Nollen G.J., Groenink M., Tijssen J.G., Van Der Wall E.E., and Mulder B.J. Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 25 13 (2004 Jul) 1146-1152
-
(2004)
Eur Heart J
, vol.25
, Issue.13
, pp. 1146-1152
-
-
Nollen, G.J.1
Groenink, M.2
Tijssen, J.G.3
Van Der Wall, E.E.4
Mulder, B.J.5
-
43
-
-
0030977430
-
Thoracoabdominal aorta in Marfan syndrome: MR imaging findings of progression of vasculopathy after surgical repair
-
Kawamoto S., Bluemke D.A., Traill T.A., and Zerhouni E.A. Thoracoabdominal aorta in Marfan syndrome: MR imaging findings of progression of vasculopathy after surgical repair. Radiology 203 3 (1997 Jun) 727-732
-
(1997)
Radiology
, vol.203
, Issue.3
, pp. 727-732
-
-
Kawamoto, S.1
Bluemke, D.A.2
Traill, T.A.3
Zerhouni, E.A.4
-
44
-
-
0037373965
-
Comparison of aortic elasticity in patients with the Marfan syndrome with and without aortic root replacement
-
Nollen G.J., Meijboom L.J., Groenink M., Timmermans J., Barentsz J.O., Merchant N., et al. Comparison of aortic elasticity in patients with the Marfan syndrome with and without aortic root replacement. Am J Cardiol 91 5 (2003 Mar 1) 637-640
-
(2003)
Am J Cardiol
, vol.91
, Issue.5
, pp. 637-640
-
-
Nollen, G.J.1
Meijboom, L.J.2
Groenink, M.3
Timmermans, J.4
Barentsz, J.O.5
Merchant, N.6
-
45
-
-
0037378998
-
Left ventricular function in the Marfan syndrome without significant valvular regurgitation
-
Chatrath R., Beauchesne L.M., Connolly H.M., Michels V.V., and Driscoll D.J. Left ventricular function in the Marfan syndrome without significant valvular regurgitation. Am J Cardiol 91 7 (2003 Apr 1) 914-916
-
(2003)
Am J Cardiol
, vol.91
, Issue.7
, pp. 914-916
-
-
Chatrath, R.1
Beauchesne, L.M.2
Connolly, H.M.3
Michels, V.V.4
Driscoll, D.J.5
-
46
-
-
0028340976
-
Left ventricular function in children with the Marfan syndrome
-
Savolainen A., Nisula L., Keto P., Hekali P., Viitasalo M., Kaitila I., et al. Left ventricular function in children with the Marfan syndrome. Eur Heart J 15 5 (1994) 625-630
-
(1994)
Eur Heart J
, vol.15
, Issue.5
, pp. 625-630
-
-
Savolainen, A.1
Nisula, L.2
Keto, P.3
Hekali, P.4
Viitasalo, M.5
Kaitila, I.6
-
47
-
-
0036727016
-
Diastolic subclinical primary alterations in Marfan syndrome and Marfan-related disorders
-
Porciani M.C., Giurlani L., Chelucci A., Pepe G., Giusti B.H., Brunelli T., et al. Diastolic subclinical primary alterations in Marfan syndrome and Marfan-related disorders. Clin Cardiol 25 9 (2002 Sep) 416-420
-
(2002)
Clin Cardiol
, vol.25
, Issue.9
, pp. 416-420
-
-
Porciani, M.C.1
Giurlani, L.2
Chelucci, A.3
Pepe, G.4
Giusti, B.H.5
Brunelli, T.6
-
48
-
-
33645123434
-
Left ventricular diastolic dysfunction in children and young adults with Marfan syndrome
-
Das B.B., Taylor A.L., and Yetman A.T. Left ventricular diastolic dysfunction in children and young adults with Marfan syndrome. Pediatr Cardiol 27 2 (2006 Mar-Apr) 256-258
-
(2006)
Pediatr Cardiol
, vol.27
, Issue.2
, pp. 256-258
-
-
Das, B.B.1
Taylor, A.L.2
Yetman, A.T.3
-
49
-
-
33748782521
-
Primary impairment of left ventricular function in Marfan syndrome
-
De Backer J.F., Devos D., Segers P., Matthys D., Francois K., Gillebert T.C., et al. Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol (2005 Nov 25)
-
(2005)
Int J Cardiol
-
-
De Backer, J.F.1
Devos, D.2
Segers, P.3
Matthys, D.4
Francois, K.5
Gillebert, T.C.6
-
50
-
-
0033136067
-
Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome
-
Rossi-Foulkes R., Roman M.J., Rosen S.E., Kramer-Fox R., Ehlers K.H., O'Loughlin J.E., et al. Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol 83 9 (1999) 1364-1368
-
(1999)
Am J Cardiol
, vol.83
, Issue.9
, pp. 1364-1368
-
-
Rossi-Foulkes, R.1
Roman, M.J.2
Rosen, S.E.3
Kramer-Fox, R.4
Ehlers, K.H.5
O'Loughlin, J.E.6
-
51
-
-
0028296142
-
Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome
-
Shores J., Berger K.R., Murphy E.A., and Pyeritz R.E. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med 330 19 (1994) 1335-1341
-
(1994)
N Engl J Med
, vol.330
, Issue.19
, pp. 1335-1341
-
-
Shores, J.1
Berger, K.R.2
Murphy, E.A.3
Pyeritz, R.E.4
-
52
-
-
33645672459
-
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
-
Habashi J.P., Judge D.P., Holm T.M., Cohn R.D., Loeys B.L., Cooper T.K., et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312 5770 (2006 Apr 7) 117-121
-
(2006)
Science
, vol.312
, Issue.5770
, pp. 117-121
-
-
Habashi, J.P.1
Judge, D.P.2
Holm, T.M.3
Cohn, R.D.4
Loeys, B.L.5
Cooper, T.K.6
-
53
-
-
45949092534
-
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome
-
Brooke B.S., Habashi J.P., Judge D.P., Patel N., Loeys B., and Dietz III H.C. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med 358 26 (2008 Jun 26) 2787-2795
-
(2008)
N Engl J Med
, vol.358
, Issue.26
, pp. 2787-2795
-
-
Brooke, B.S.1
Habashi, J.P.2
Judge, D.P.3
Patel, N.4
Loeys, B.5
Dietz III, H.C.6
-
54
-
-
34548775221
-
Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome
-
Lacro R.V., Dietz H.C., Wruck L.M., Bradley T.J., Colan S.D., Devereux R.B., et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 154 4 (2007 Oct) 624-631
-
(2007)
Am Heart J
, vol.154
, Issue.4
, pp. 624-631
-
-
Lacro, R.V.1
Dietz, H.C.2
Wruck, L.M.3
Bradley, T.J.4
Colan, S.D.5
Devereux, R.B.6
-
55
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
Loeys B.L., Chen J., Neptune E.R., Judge D.P., 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 37 3 (2005 Mar) 275-281
-
(2005)
Nat Genet
, 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
-
56
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys B.L., Schwarze U., Holm T., Callewaert B.L., Thomas G.H., Pannu H., et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355 8 (2006 Aug 24) 788-798
-
(2006)
N Engl J Med
, 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
-
57
-
-
33846370126
-
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease
-
[discussion S85-90]
-
Williams J.A., Loeys B.L., Nwakanma L.U., Dietz H.C., Spevak P.J., Patel N.D., et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 83 2 (2007 Feb) S757-S763 [discussion S85-90]
-
(2007)
Ann Thorac Surg
, vol.83
, Issue.2
-
-
Williams, J.A.1
Loeys, B.L.2
Nwakanma, L.U.3
Dietz, H.C.4
Spevak, P.J.5
Patel, N.D.6
-
58
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
Pepin M., Schwarze U., Superti-Furga A., and Byers P.H. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342 10 (2000) 673-680
-
(2000)
N Engl J Med
, vol.342
, Issue.10
, pp. 673-680
-
-
Pepin, M.1
Schwarze, U.2
Superti-Furga, A.3
Byers, P.H.4
-
59
-
-
22044433881
-
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience
-
Oderich G.S., Panneton J.M., Bower T.C., Lindor N.M., Cherry K.J., Noel A.A., et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 42 1 (2005 Jul) 98-106
-
(2005)
J Vasc Surg
, vol.42
, Issue.1
, pp. 98-106
-
-
Oderich, G.S.1
Panneton, J.M.2
Bower, T.C.3
Lindor, N.M.4
Cherry, K.J.5
Noel, A.A.6
-
60
-
-
1842591052
-
Increased carotid wall stress in vascular Ehlers-Danlos syndrome
-
Boutouyrie P., Germain D.P., Fiessinger J.N., Laloux B., Perdu J., and Laurent S. Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation 109 12 (2004 Mar 30) 1530-1535
-
(2004)
Circulation
, vol.109
, Issue.12
, pp. 1530-1535
-
-
Boutouyrie, P.1
Germain, D.P.2
Fiessinger, J.N.3
Laloux, B.4
Perdu, J.5
Laurent, S.6
-
61
-
-
33645381280
-
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
-
Coucke P.J., Willaert A., Wessels M.W., Callewaert B., Zoppi N., De Backer J., et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006 Mar 19)
-
(2006)
Nat Genet
-
-
Coucke, P.J.1
Willaert, A.2
Wessels, M.W.3
Callewaert, B.4
Zoppi, N.5
De Backer, J.6
-
62
-
-
23044438103
-
Mutations in transforming growth factor-{beta} receptor type II cause familial thoracic aortic aneurysms and dissections
-
Pannu H., Fadulu V.T., Chang J., Lafont A., Hasham S.N., Sparks E., et al. Mutations in transforming growth factor-{beta} receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112 4 (2005 July 26) 513-520
-
(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
-
63
-
-
33644627494
-
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
-
Zhu L., Vranckx R., Van Kien P.K., Lalande A., Boisset N., Mathieu F., et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 38 3 (2006 Mar) 343-349
-
(2006)
Nat Genet
, vol.38
, Issue.3
, pp. 343-349
-
-
Zhu, L.1
Vranckx, R.2
Van Kien, P.K.3
Lalande, A.4
Boisset, N.5
Mathieu, F.6
-
64
-
-
36549071997
-
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
-
Guo D.C., Pannu H., Tran-Fadulu V., Papke C.L., Yu R.K., Avidan N., et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39 12 (2007 Dec) 1488-1493
-
(2007)
Nat Genet
, vol.39
, Issue.12
, pp. 1488-1493
-
-
Guo, D.C.1
Pannu, H.2
Tran-Fadulu, V.3
Papke, C.L.4
Yu, R.K.5
Avidan, N.6
-
65
-
-
55749095511
-
Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain
-
Lalande A., Khau Van Kien P., Walker P.M., Zhu L., Legrand L., Claustres M., et al. Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain. J Magn Reson Imaging 28 5 (2008 Nov) 1180-1187
-
(2008)
J Magn Reson Imaging
, vol.28
, Issue.5
, pp. 1180-1187
-
-
Lalande, A.1
Khau Van Kien, P.2
Walker, P.M.3
Zhu, L.4
Legrand, L.5
Claustres, M.6
-
66
-
-
20044392868
-
Structural and genetic bases of arterial stiffness
-
Laurent S., Boutouyrie P., and Lacolley P. Structural and genetic bases of arterial stiffness. Hypertension 45 6 (2005 Jun) 1050-1055
-
(2005)
Hypertension
, vol.45
, Issue.6
, pp. 1050-1055
-
-
Laurent, S.1
Boutouyrie, P.2
Lacolley, P.3
-
67
-
-
0018180616
-
The natural history of a non-stenotic bicuspid aortic valve
-
Mills P., Leech G., Davies M., and Leathan A. The natural history of a non-stenotic bicuspid aortic valve. Br Heart J 40 9 (1978 Sep) 951-957
-
(1978)
Br Heart J
, vol.40
, Issue.9
, pp. 951-957
-
-
Mills, P.1
Leech, G.2
Davies, M.3
Leathan, A.4
-
68
-
-
0032883890
-
Histologic abnormalities of the ascending aorta and pulmonary trunk in patients with bicuspid aortic valve disease: clinical relevance to the Ross procedure
-
de Sa M., Moshkovitz Y., Butany J., and David T.E. Histologic abnormalities of the ascending aorta and pulmonary trunk in patients with bicuspid aortic valve disease: clinical relevance to the Ross procedure. J Thorac Cardiovasc Surg 118 4 (1999 Oct) 588-594
-
(1999)
J Thorac Cardiovasc Surg
, vol.118
, Issue.4
, pp. 588-594
-
-
de Sa, M.1
Moshkovitz, Y.2
Butany, J.3
David, T.E.4
-
69
-
-
0037143635
-
Clinical and pathophysiological implications of a bicuspid aortic valve
-
Fedak P.W., Verma S., David T.E., Leask R.L., Weisel R.D., and Butany J. Clinical and pathophysiological implications of a bicuspid aortic valve. Circulation 106 8 (2002 Aug 20) 900-904
-
(2002)
Circulation
, vol.106
, Issue.8
, pp. 900-904
-
-
Fedak, P.W.1
Verma, S.2
David, T.E.3
Leask, R.L.4
Weisel, R.D.5
Butany, J.6
-
70
-
-
0026530616
-
Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves
-
Hahn R.T., Roman M.J., Mogtader A.H., and Devereux R.B. Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. J Am Coll Cardiol 19 2 (1992 Feb) 283-288
-
(1992)
J Am Coll Cardiol
, vol.19
, Issue.2
, pp. 283-288
-
-
Hahn, R.T.1
Roman, M.J.2
Mogtader, A.H.3
Devereux, R.B.4
-
71
-
-
11844270430
-
Aortic dimensions in patients with bicuspid aortic valve without significant valve dysfunction
-
Cecconi M., Manfrin M., Moraca A., Zanoli R., Colonna P.L., Bettuzzi M.G., et al. Aortic dimensions in patients with bicuspid aortic valve without significant valve dysfunction. Am J Cardiol 95 2 (2005 Jan 15) 292-294
-
(2005)
Am J Cardiol
, vol.95
, Issue.2
, pp. 292-294
-
-
Cecconi, M.1
Manfrin, M.2
Moraca, A.3
Zanoli, R.4
Colonna, P.L.5
Bettuzzi, M.G.6
-
72
-
-
7944229161
-
Frequency of aortic root dilation in children with a bicuspid aortic valve
-
Gurvitz M., Chang R.K., Drant S., and Allada V. Frequency of aortic root dilation in children with a bicuspid aortic valve. Am J Cardiol 94 10 (2004 Nov 15) 1337-1340
-
(2004)
Am J Cardiol
, vol.94
, Issue.10
, pp. 1337-1340
-
-
Gurvitz, M.1
Chang, R.K.2
Drant, S.3
Allada, V.4
-
73
-
-
1442324346
-
An echocardiographic survey of primary school children for bicuspid aortic valve
-
Basso C., Boschello M., Perrone C., Mecenero A., Cera A., Bicego D., et al. An echocardiographic survey of primary school children for bicuspid aortic valve. Am J Cardiol 93 5 (2004 Mar 1) 661-663
-
(2004)
Am J Cardiol
, vol.93
, Issue.5
, pp. 661-663
-
-
Basso, C.1
Boschello, M.2
Perrone, C.3
Mecenero, A.4
Cera, A.5
Bicego, D.6
-
74
-
-
0031540602
-
A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve
-
Huntington K., Hunter A.G., and Chan K.L. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30 7 (1997 Dec) 1809-1812
-
(1997)
J Am Coll Cardiol
, vol.30
, Issue.7
, pp. 1809-1812
-
-
Huntington, K.1
Hunter, A.G.2
Chan, K.L.3
-
75
-
-
0018231603
-
Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families
-
Emanuel R., Withers R., O'Brien K., Ross P., and Feizi O. Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. Br Heart J 40 12 (1978 Dec) 1402-1407
-
(1978)
Br Heart J
, vol.40
, Issue.12
, pp. 1402-1407
-
-
Emanuel, R.1
Withers, R.2
O'Brien, K.3
Ross, P.4
Feizi, O.5
-
76
-
-
3242808690
-
Linkage of familial bicuspid aortic valve with aortic aneurysm to chromosome 15q
-
Goh D., Han L., Judge D.P., and Dietz H. Linkage of familial bicuspid aortic valve with aortic aneurysm to chromosome 15q. Am Soc Hum Genet 71 (2002) A239
-
(2002)
Am Soc Hum Genet
, vol.71
-
-
Goh, D.1
Han, L.2
Judge, D.P.3
Dietz, H.4
-
77
-
-
33645476800
-
A prospective analysis of the inheritance, pathogenesis and natural history of bicuspid aortic valve with thoracic aortic aneurysm
-
Loscalzo M., Goh D., and Spevak P.J. A prospective analysis of the inheritance, pathogenesis and natural history of bicuspid aortic valve with thoracic aortic aneurysm. Am Soc Hum Genet (2004)
-
(2004)
Am Soc Hum Genet
-
-
Loscalzo, M.1
Goh, D.2
Spevak, P.J.3
-
78
-
-
0015354918
-
The dominant and recessive forms of cutis laxa
-
Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet 9 2 (1972 Jun) 216-221
-
(1972)
J Med Genet
, vol.9
, Issue.2
, pp. 216-221
-
-
Beighton, P.1
-
79
-
-
33645125433
-
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
-
Szabo Z., Crepeau M.W., Mitchell A.L., Stephan M.J., Puntel R.A., Yin Loke K., et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet 43 3 (2006 Mar) 255-258
-
(2006)
J Med Genet
, vol.43
, Issue.3
, pp. 255-258
-
-
Szabo, Z.1
Crepeau, M.W.2
Mitchell, A.L.3
Stephan, M.J.4
Puntel, R.A.5
Yin Loke, K.6
|