-
1
-
-
24744453350
-
Treatment of aortic disease in patients with Marfan syndrome
-
Milewicz D.M., Dietz H.C., Miller D.C. Treatment of aortic disease in patients with Marfan syndrome. Circulation 2005, 111:e150-e157.
-
(2005)
Circulation
, vol.111
-
-
Milewicz, D.M.1
Dietz, H.C.2
Miller, D.C.3
-
2
-
-
0028876793
-
Marfan syndrome. Long-term survival and complications after aortic aneurysm repair
-
Finkbohner R., Johnston D., Crawford E.S., et al. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 1995, 91:728-733.
-
(1995)
Circulation
, vol.91
, pp. 728-733
-
-
Finkbohner, R.1
Johnston, D.2
Crawford, E.S.3
-
3
-
-
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., et al. Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol 1995, 26:1062-1067.
-
(1995)
J Am Coll Cardiol
, vol.26
, pp. 1062-1067
-
-
Silverman, D.I.1
Gray, J.2
Roman, M.J.3
-
5
-
-
0035122187
-
Natural history of cardiovascular manifestations in Marfan syndrome
-
van Karnebeek C.D., Naeff M.S., Mulder B.J., et al. Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child 2001, 84:129-137.
-
(2001)
Arch Dis Child
, vol.84
, pp. 129-137
-
-
van Karnebeek, C.D.1
Naeff, M.S.2
Mulder, B.J.3
-
6
-
-
0028902039
-
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome
-
Milewicz D.M., Grossfield J., Cao S.N., et al. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 1995, 95:2373-2378.
-
(1995)
J Clin Invest
, vol.95
, pp. 2373-2378
-
-
Milewicz, D.M.1
Grossfield, J.2
Cao, S.N.3
-
7
-
-
0029801012
-
Fibrillin-1 FBN1 mutations in patients with thoracic aortic aneurysms
-
Milewicz D.M., Michael K., Fisher N., et al. Fibrillin-1 FBN1 mutations in patients with thoracic aortic aneurysms. Circulation 1996, 94:2708-2711.
-
(1996)
Circulation
, vol.94
, pp. 2708-2711
-
-
Milewicz, D.M.1
Michael, K.2
Fisher, N.3
-
8
-
-
0029001289
-
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic-aneurysm and dissection
-
Francke U., Berg M.A., Tynan K., et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic-aneurysm and dissection. Am J Hum Genet 1995, 56:1287-1296.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1287-1296
-
-
Francke, U.1
Berg, M.A.2
Tynan, K.3
-
9
-
-
0037093750
-
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
-
Ades L.C., Sreetharan D., Onikul E., et al. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. Am J Med Genet 2002, 109:261-270.
-
(2002)
Am J Med Genet
, vol.109
, pp. 261-270
-
-
Ades, L.C.1
Sreetharan, D.2
Onikul, E.3
-
10
-
-
0036024849
-
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
-
Katzke S., Booms P., Tiecke F., et al. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat 2002, 20:197-208.
-
(2002)
Hum Mutat
, vol.20
, pp. 197-208
-
-
Katzke, S.1
Booms, P.2
Tiecke, F.3
-
11
-
-
69249220259
-
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
-
Stheneur C., Collod-Beroud G., Faivre L., et al. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet 2009, 17:1121-1128.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1121-1128
-
-
Stheneur, C.1
Collod-Beroud, G.2
Faivre, L.3
-
12
-
-
3442886498
-
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
-
Loeys B., De Backer J., Van Acker P., et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004, 24:140-146.
-
(2004)
Hum Mutat
, vol.24
, pp. 140-146
-
-
Loeys, B.1
De Backer, J.2
Van Acker, P.3
-
13
-
-
0027434893
-
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes
-
[see comments]
-
Boileau C., Jondeau G., Babron M.C., et al. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet 1993, 53:46-54. [see comments].
-
(1993)
Am J Hum Genet
, vol.53
, pp. 46-54
-
-
Boileau, C.1
Jondeau, G.2
Babron, M.C.3
-
14
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
[see comments]
-
Collod G., Babron M.C., Jondeau G., et al. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 1994, 8:264-268. [see comments].
-
(1994)
Nat Genet
, vol.8
, pp. 264-268
-
-
Collod, G.1
Babron, M.C.2
Jondeau, G.3
-
15
-
-
0029263728
-
The question of heterogeneity in Marfan syndrome
-
Dietz H., Francke U., Furthmayr H., et al. The question of heterogeneity in Marfan syndrome. Nat Genet 1995, 9:228-231.
-
(1995)
Nat Genet
, vol.9
, pp. 228-231
-
-
Dietz, H.1
Francke, U.2
Furthmayr, H.3
-
16
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys B.L., Schwarze U., Holm T., et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006, 355:788-798.
-
(2006)
N Engl J Med
, vol.355
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
-
17
-
-
33847639690
-
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation
-
LeMaire S.A., Pannu H., Tran-Fadulu V., et al. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med 2007, 4:167-171.
-
(2007)
Nat Clin Pract Cardiovasc Med
, vol.4
, pp. 167-171
-
-
LeMaire, S.A.1
Pannu, H.2
Tran-Fadulu, V.3
-
18
-
-
33846370126
-
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease
-
Williams J.A., Loeys B.L., Nwakanma L.U., et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007, 83:S757-S763.
-
(2007)
Ann Thorac Surg
, vol.83
-
-
Williams, J.A.1
Loeys, B.L.2
Nwakanma, L.U.3
-
19
-
-
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., 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.
-
(2005)
Nat Genet
, vol.37
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
-
21
-
-
0030946538
-
Familial thoracic aortic dilatations and dissections: a case control study
-
Biddinger A., Rocklin M., Coselli J., et al. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg 1997, 25:506-511.
-
(1997)
J Vasc Surg
, vol.25
, pp. 506-511
-
-
Biddinger, A.1
Rocklin, M.2
Coselli, J.3
-
22
-
-
0033017099
-
Familial patterns of thoracic aortic aneurysms
-
Coady M.A., Davies R.R., Roberts M., et al. Familial patterns of thoracic aortic aneurysms. Arch Surg 1999, 134:361-367.
-
(1999)
Arch Surg
, vol.134
, pp. 361-367
-
-
Coady, M.A.1
Davies, R.R.2
Roberts, M.3
-
23
-
-
33748752789
-
Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns
-
Albornoz G., Coady M.A., Roberts M., et al. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006, 82:1400-1405.
-
(2006)
Ann Thorac Surg
, vol.82
, pp. 1400-1405
-
-
Albornoz, G.1
Coady, M.A.2
Roberts, M.3
-
24
-
-
0031823564
-
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections
-
Milewicz D.M., Chen H., Park E.S., et al. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol 1998, 82:474-479.
-
(1998)
Am J Cardiol
, vol.82
, pp. 474-479
-
-
Milewicz, D.M.1
Chen, H.2
Park, E.S.3
-
25
-
-
0015495758
-
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis
-
McKusick V.A. Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. Lancet 1972, 1:1026-1027.
-
(1972)
Lancet
, vol.1
, pp. 1026-1027
-
-
McKusick, V.A.1
-
26
-
-
0027958601
-
Congenitally bicuspid aortic valve in multiple family members
-
Glick B.N., Roberts W.C. Congenitally bicuspid aortic valve in multiple family members. Am J Cardiol 1994, 73:400-404.
-
(1994)
Am J Cardiol
, vol.73
, pp. 400-404
-
-
Glick, B.N.1
Roberts, W.C.2
-
27
-
-
0029965973
-
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance
-
Clementi M., Notari L., Borghi A., et al. Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am J Med Genet 1996, 62:336-338.
-
(1996)
Am J Med Genet
, vol.62
, pp. 336-338
-
-
Clementi, M.1
Notari, L.2
Borghi, A.3
-
28
-
-
34548307188
-
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance
-
Loscalzo M.L., Goh D.L., Loeys B., et al. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A 2007, 143:1960-1967.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1960-1967
-
-
Loscalzo, M.L.1
Goh, D.L.2
Loeys, B.3
-
29
-
-
0035869147
-
Aortic dissection and patent ductus arteriosus in three generations
-
A9
-
Glancy D.L., Wegmann M., Dhurandhar R.W. Aortic dissection and patent ductus arteriosus in three generations. Am J Cardiol 2001, 87:813-815. A9.
-
(2001)
Am J Cardiol
, vol.87
, pp. 813-815
-
-
Glancy, D.L.1
Wegmann, M.2
Dhurandhar, R.W.3
-
30
-
-
16544395254
-
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity
-
Khau Van K.P., Wolf J.E., Mathieu F., et al. Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur J Hum Genet 2004, 12:173-180.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 173-180
-
-
Khau Van, K.P.1
Wolf, J.E.2
Mathieu, F.3
-
31
-
-
23044438103
-
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections
-
Pannu H., Fadulu V., 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.
-
(2005)
Circulation
, vol.112
, pp. 513-520
-
-
Pannu, H.1
Fadulu, V.2
Chang, J.3
-
32
-
-
33644627494
-
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
-
Zhu L., Vranckx R., Khau Van K.P., et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006, 38:343-349.
-
(2006)
Nat Genet
, vol.38
, pp. 343-349
-
-
Zhu, L.1
Vranckx, R.2
Khau Van, K.P.3
-
33
-
-
36549071997
-
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
-
Guo D.C., Pannu H., Papke C.L., et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007, 39:1488-1493.
-
(2007)
Nat Genet
, vol.39
, pp. 1488-1493
-
-
Guo, D.C.1
Pannu, H.2
Papke, C.L.3
-
34
-
-
33846163129
-
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene
-
Law C., Bunyan D., Castle B., et al. Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. J Med Genet 2006, 43:908-916.
-
(2006)
J Med Genet
, vol.43
, pp. 908-916
-
-
Law, C.1
Bunyan, D.2
Castle, B.3
-
35
-
-
69749113581
-
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
-
Tran-Fadulu V.T., Pannu H., Kim D.H., 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.T.1
Pannu, H.2
Kim, D.H.3
-
36
-
-
22144495760
-
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13
-
Van Kien P.K., Mathieu F., Zhu L., et al. Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. Circulation 2005, 112:200-206.
-
(2005)
Circulation
, vol.112
, pp. 200-206
-
-
Van Kien, P.K.1
Mathieu, F.2
Zhu, L.3
-
37
-
-
34848825045
-
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
-
Pannu H., Tran-Fadulu V., Papke C.L., et al. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet 2007, 16:3453-3462.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3453-3462
-
-
Pannu, H.1
Tran-Fadulu, V.2
Papke, C.L.3
-
38
-
-
0021687082
-
Actin and tropomyosin variants in smooth muscles. Dependence on tissue type
-
Fatigati V., Murphy R.A. Actin and tropomyosin variants in smooth muscles. Dependence on tissue type. J Biol Chem 1984, 259:14383-14388.
-
(1984)
J Biol Chem
, vol.259
, pp. 14383-14388
-
-
Fatigati, V.1
Murphy, R.A.2
-
39
-
-
65149088429
-
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease
-
Guo D.C., Papke C.L., Tran-Fadulu V., et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 2009, 84:617-627.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 617-627
-
-
Guo, D.C.1
Papke, C.L.2
Tran-Fadulu, V.3
|