-
1
-
-
0033652090
-
Surgery: Cardiovascular surgery for Marfan syndrome
-
Treasure T. Surgery: cardiovascular surgery for Marfan syndrome. Heart 2000;84:674-8.
-
(2000)
Heart
, vol.84
, pp. 674-678
-
-
Treasure, T.1
-
2
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz Hc, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.1
Cutting, G.R.2
Pyeritz, R.E.3
-
3
-
-
0034017021
-
The molecular genetics of Marfan syndrome and related microfibrillopathies
-
Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000;37:9-25.
-
(2000)
J Med Genet
, vol.37
, pp. 9-25
-
-
Robinson, P.N.1
Godfrey, M.2
-
4
-
-
0012700905
-
Marfan syndrome and other disorders of fibrillin
-
Rimoin DL, Conner JM, Pyeritz RE, Korf B, eds, 4th edn. Edinburgh: Churchill Livingstone;
-
Pyeritz RE. Marfan syndrome and other disorders of fibrillin. In: Rimoin DL, Conner JM, Pyeritz RE, Korf B, eds. Principles and Practice of Medical Genetics. 4th edn. Edinburgh: Churchill Livingstone; 2002:3977-4020.
-
(2002)
Principles and Practice of Medical Genetics
, pp. 3977-4020
-
-
Pyeritz, R.E.1
-
5
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
DePaepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-26.
-
(1996)
Am J Med Genet
, vol.62
, pp. 417-426
-
-
DePaepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.4
Pyeritz, R.E.5
-
6
-
-
0028852659
-
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
-
Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995;4:1799-809.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1799-1809
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
7
-
-
0035851312
-
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
-
Loeys B, Nuytinck L, Delvaux I, et al. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 2001;161:244-54.
-
(2001)
Arch Intern Med
, vol.161
, pp. 244-254
-
-
Loeys, B.1
Nuytinck, L.2
Delvaux, I.3
-
8
-
-
43549122384
-
Marfan syndrome
-
2nd ed. Montvale, NJ: Dowden Publishing Company, Inc
-
Thoene JG. Marfan syndrome. In: Physician's Guide to Rare Diseases. 2nd ed. Montvale, NJ: Dowden Publishing Company, Inc, 1995.
-
(1995)
Physician's Guide to Rare Diseases
-
-
Thoene, J.G.1
-
9
-
-
0003002602
-
Multi-exon deletions of the FBN1 gene in Marfan syndrome
-
Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. Multi-exon deletions of the FBN1 gene in Marfan syndrome. Med Genet 2001; 2:11.
-
(2001)
Med Genet
, vol.2
, pp. 11
-
-
Liu, W.1
Schrijver, I.2
Brenn, T.3
Furthmayr, H.4
Francke, U.5
-
10
-
-
0028903613
-
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome
-
Wang M, Price CE, Han J, et al. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Mol Genet 1995;4:607-13.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 607-613
-
-
Wang, M.1
Price, C.E.2
Han, J.3
-
11
-
-
34248212374
-
Congenital contractural arachnodactyly (Beals syndrome)
-
Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis 2006;1:20.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 20
-
-
Tuncbilek, E.1
Alanay, Y.2
-
12
-
-
0036086275
-
Management of Marfan syndrome
-
Dean JCS. Management of Marfan syndrome. Heart 2002;88:97-103.
-
(2002)
Heart
, vol.88
, pp. 97-103
-
-
Dean, J.C.S.1
-
14
-
-
0032846248
-
Survival and complication free survival in Marfan's syndrome: Implications of current guidelines
-
Groenink M, Lohuis TA, Tijssen JG, et al. Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart 1999:82:499-504.
-
(1999)
Heart
, vol.82
, pp. 499-504
-
-
Groenink, M.1
Lohuis, T.A.2
Tijssen, J.G.3
-
15
-
-
0028296142
-
Progression of aortic dilatation and the benefit of long-term β-adrenergic blockade in Marfan's syndrome
-
Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term β-adrenergic blockade in Marfan's syndrome. N Engl J Med 1994;330;1335-41.
-
(1994)
N Engl J Med
, vol.330
, pp. 1335-1341
-
-
Shores, J.1
Berger, K.R.2
Murphy, E.A.3
Pyeritz, R.E.4
-
16
-
-
0027939984
-
Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome
-
Salim MA, Alpert BS, Ward JC, et al. Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am J Cardiol 1994;74:629-33.
-
(1994)
Am J Cardiol
, vol.74
, pp. 629-633
-
-
Salim, M.A.1
Alpert, B.S.2
Ward, J.C.3
-
17
-
-
0030897069
-
Heterogeneous aortic response to acute beta-adrenergic blockade in Marfan syndrome
-
Haouzi A, Berglund H, Pelikan PC, et al. Heterogeneous aortic response to acute beta-adrenergic blockade in Marfan syndrome. Am Heart J 1997;133:60-3.
-
(1997)
Am Heart J
, vol.133
, pp. 60-63
-
-
Haouzi, A.1
Berglund, H.2
Pelikan, P.C.3
-
18
-
-
0032527660
-
Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome
-
Groenink M, de Roos A, Mulder BJ, et al. Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome. Am J Cardiol 1998;82:203-8.
-
(1998)
Am J Cardiol
, vol.82
, pp. 203-208
-
-
Groenink, M.1
de Roos, A.2
Mulder, B.J.3
-
19
-
-
0037438497
-
Long-term outcome in patients with Marfan syndrome: Is aortic dissection the only cause of sudden death?
-
Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol 2003:41:329-32.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 329-332
-
-
Yetman, A.T.1
Bornemeier, R.A.2
McCrindle, B.W.3
-
20
-
-
33845619561
-
Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome
-
Tierney ESS, Feingold B, Printz BF, et al. Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr 2007;150:77-82.
-
(2007)
J Pediatr
, vol.150
, pp. 77-82
-
-
Tierney, E.S.S.1
Feingold, B.2
Printz, B.F.3
-
21
-
-
0035908959
-
Angiotensin II type 2 receptor mediates muscle cell apoptosis in cystic medical degeneration associated with Marfan's syndrome
-
Nagashima H, Sakomura Y, Aoka Y, et al. Angiotensin II type 2 receptor mediates muscle cell apoptosis in cystic medical degeneration associated with Marfan's syndrome. Circulation 2001; 104(Suppl I):I-282-7.
-
(2001)
Circulation
, vol.104
, Issue.SUPPL. I
-
-
Nagashima, H.1
Sakomura, Y.2
Aoka, Y.3
-
22
-
-
0034878317
-
Marfan syndrome and pregnancy: A retrospective study in a Dutch population
-
Lind J, Wallenburg HC. Marfan syndrome and pregnancy: a retrospective study in a Dutch population. Eur J Obstet Gynaecol Reprod Biol 2001;98:28-35.
-
(2001)
Eur J Obstet Gynaecol Reprod Biol
, vol.98
, pp. 28-35
-
-
Lind, J.1
Wallenburg, H.C.2
-
23
-
-
17144431938
-
Task force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome
-
Maron BJ, Ackerman MJ, Nishimura RA, Pyeritz RE, Towbin JA, Udelson JE. Task force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol 2005; 45:1340-5.
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 1340-1345
-
-
Maron, B.J.1
Ackerman, M.J.2
Nishimura, R.A.3
Pyeritz, R.E.4
Towbin, J.A.5
Udelson, J.E.6
-
24
-
-
34250836735
-
guidelines for the management of patients with valvular heart disease
-
ACC/AHA
-
ACC/AHA 2006 guidelines for the management of patients with valvular heart disease. J Am Coll Cardiol 2006;48:1-148.
-
(2006)
J Am Coll Cardiol
, vol.2006
, Issue.48
, pp. 1-148
-
-
-
25
-
-
0028876793
-
Marfan syndrome: Long-term survival and complications after aortic aneurysm repair
-
Finkbohner R, Johnston D, Crawford S, et al. Marfan syndrome: long-term survival and complications after aortic aneurysm repair. Circulation 1995;91:728-33.
-
(1995)
Circulation
, vol.91
, pp. 728-733
-
-
Finkbohner, R.1
Johnston, D.2
Crawford, S.3
|