-
1
-
-
0001885603
-
Marfan syndrome and related disorders
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
-
Dietz H.C., Pyeritz R.E. Marfan syndrome and related disorders. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular basis of inherited disease. 8th edition :2001;5287-5311 McGraw-Hill, New York
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease 8th Edition
, pp. 5287-5311
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
2
-
-
0015598872
-
Ocular manifestations in the Marfan syndrome and homocystinuria
-
Cross H.E., Jensen A.D. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol. 75:1973;405-420
-
(1973)
Am J Ophthalmol
, vol.75
, pp. 405-420
-
-
Cross, H.E.1
Jensen, A.D.2
-
3
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz H.C., Cutting G.R., Pyeritz R.E., et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 352:1991;337-339
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
-
4
-
-
0025018011
-
Location on chromosome 15 of the gene defect causing Marfan syndrome
-
Kainulainen K., Pulkkinen L., Savolainen A., Kaitila I., Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med. 323:1990;935-939
-
(1990)
N Engl J Med
, vol.323
, pp. 935-939
-
-
Kainulainen, K.1
Pulkkinen, L.2
Savolainen, A.3
Kaitila, I.4
Peltonen, L.5
-
5
-
-
0026020269
-
The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3
-
Dietz H.C., Pyeritz R.E., Hall B.D., et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics. 9:1991;355-361
-
(1991)
Genomics
, vol.9
, pp. 355-361
-
-
Dietz, H.C.1
Pyeritz, R.E.2
Hall, B.D.3
-
6
-
-
0028012750
-
Ascertainment and severity of Marfan syndrome in a Scottish population
-
Gray J.R., Bridges A.B., Faed M.J., et al. Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet. 31:1994;51-54
-
(1994)
J Med Genet
, vol.31
, pp. 51-54
-
-
Gray, J.R.1
Bridges, A.B.2
Faed, M.J.3
-
7
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A., Devereux R.B., Dietz H.C., Hennekam R.C., Pyeritz R.E. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 62:1996;417-426
-
(1996)
Am J Med Genet
, vol.62
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.4
Pyeritz, R.E.5
-
8
-
-
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., Pyeritz R.E. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 330:1994;1335-1341
-
(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
-
9
-
-
0033059773
-
Operative management of Marfan syndrome: The Johns Hopkins experience
-
Baumgartner W.A., Cameron D.E., Redmond J.M., Greene P.S., Gott V.L. Operative management of Marfan syndrome: the Johns Hopkins experience. Ann Thorac Surg. 67:1999;1859-1860
-
(1999)
Ann Thorac Surg
, vol.67
, pp. 1859-1860
-
-
Baumgartner, W.A.1
Cameron, D.E.2
Redmond, J.M.3
Greene, P.S.4
Gott, V.L.5
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