-
1
-
-
0018393854
-
The Marfan syndrome: Diagnosis and management
-
Pyeritz R, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979;300:772-7.
-
(1979)
N Engl J Med
, vol.300
, pp. 772-777
-
-
Pyeritz, R.1
McKusick, V.A.2
-
2
-
-
0025018011
-
Location on chromosome 15 of the gene causing Marfan syndrome
-
Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene causing Marfan syndrome. N Engl J Med 1990;323:935-9.
-
(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
-
3
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
Dietz HC, Cutting GR, Pyeritz RE. 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.C.1
Cutting, G.R.2
Pyeritz, R.E.3
-
4
-
-
0025335330
-
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
-
Hollister DW, Godfrey M, Sakai LY, Pyeritz R. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 1990;323:152-9.
-
(1990)
N Engl J Med
, vol.323
, pp. 152-159
-
-
Hollister, D.W.1
Godfrey, M.2
Sakai, L.Y.3
Pyeritz, R.4
-
5
-
-
0023917651
-
International nosology of heritable disorders of connective tissue, Berlin 1986
-
Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin 1986. Am J Med Genet 1988;29:581-94.
-
(1988)
Am J Med Genet
, vol.29
, pp. 581-594
-
-
Beighton, P.1
De Paepe, A.2
Danks, D.3
-
6
-
-
0028292451
-
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome
-
Pereira L, Levran O, Ramirez F, et al. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med 1994;331:148-53.
-
(1994)
N Engl J Med
, vol.331
, pp. 148-153
-
-
Pereira, L.1
Levran, O.2
Ramirez, F.3
-
7
-
-
0026521920
-
A Linkage map of 10 loci flanking the Marfan syndrome locus on 15q: Results of an international consortium study
-
Safarzi M, Tsipouras P, Del Maestro R, et al. A Linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an international consortium study. J Med Genet 1992;29:75-80.
-
(1992)
J Med Genet
, vol.29
, pp. 75-80
-
-
Safarzi, M.1
Tsipouras, P.2
Del Maestro, R.3
-
8
-
-
0026020269
-
The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3
-
Dietz HC, Pyeritz R, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 1991;9:355-61.
-
(1991)
Genomics
, vol.9
, pp. 355-361
-
-
Dietz, H.C.1
Pyeritz, R.2
Hall, B.D.3
-
9
-
-
0020581302
-
The Marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age
-
Sisk H, Zahka K, Pyeritz R. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol 1983;52:353-8.
-
(1983)
Am J Cardiol
, vol.52
, pp. 353-358
-
-
Sisk, H.1
Zahka, K.2
Pyeritz, R.3
-
10
-
-
0023617140
-
The clinical course and echocardiographic features of Marfan's syndrome in childhood
-
Geva T, Hegesh J, Frand M. The clinical course and echocardiographic features of Marfan's syndrome in childhood. Am J Dis Child 1987;141:1179-82.
-
(1987)
Am J Dis Child
, vol.141
, pp. 1179-1182
-
-
Geva, T.1
Hegesh, J.2
Frand, M.3
-
11
-
-
0025651697
-
Diagnosis and management of infantile Marfan's syndrome
-
Morse R, Rochenmacher S, Pyeritz R, et al. Diagnosis and management of infantile Marfan's syndrome. Pediatrics 1990;86:888-95.
-
(1990)
Pediatrics
, vol.86
, pp. 888-895
-
-
Morse, R.1
Rochenmacher, S.2
Pyeritz, R.3
-
12
-
-
0015593354
-
Cardiac manifestations of Marfan syndrome in infancy and childhood
-
Phornphutkul C, Rosenthal A, Nadas AS. Cardiac manifestations of Marfan syndrome in infancy and childhood. Circulation 1973;47:587-96.
-
(1973)
Circulation
, vol.47
, pp. 587-596
-
-
Phornphutkul, C.1
Rosenthal, A.2
Nadas, A.S.3
-
14
-
-
0026554299
-
Cardiovascular manifestations of Marfan's syndrome in the young
-
El Habbal M. Cardiovascular manifestations of Marfan's syndrome in the young. Am Heart J 1992;123:752-7.
-
(1992)
Am Heart J
, vol.123
, pp. 752-757
-
-
El Habbal, M.1
-
15
-
-
0015113781
-
A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment
-
Halpern BL, Char F, Murdoch T, Horton W, McKusick VA. A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment. Johns Hopkins Med J 1971;129:123-9.
-
(1971)
Johns Hopkins Med J
, vol.129
, pp. 123-129
-
-
Halpern, B.L.1
Char, F.2
Murdoch, T.3
Horton, W.4
McKusick, V.A.5
-
16
-
-
0019140177
-
Diagnosis and management of cardiovascular disorders in the Marfan syndrome
-
Pyeritz RE. Diagnosis and management of cardiovascular disorders in the Marfan syndrome. J Cardiovasc Med 1980; 5:759-69.
-
(1980)
J Cardiovasc Med
, vol.5
, pp. 759-769
-
-
Pyeritz, R.E.1
-
17
-
-
0024405879
-
Severe perinatal Marfan syndrome
-
Gross D, Robinson L, Smith L, Glass N, Rosenberg H, Duvic D. Severe perinatal Marfan syndrome. Pediatrics 1989; 84: 84-9.
-
(1989)
Pediatrics
, vol.84
, pp. 84-89
-
-
Gross, D.1
Robinson, L.2
Smith, L.3
Glass, N.4
Rosenberg, H.5
Duvic, D.6
-
18
-
-
0025801891
-
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency
-
Buntinx I, Willems P, Spitaels S, Van Reempst P, De Paepe A, Durnan J. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet 1991;28:267-73.
-
(1991)
J Med Genet
, vol.28
, pp. 267-273
-
-
Buntinx, I.1
Willems, P.2
Spitaels, S.3
Van Reempst, P.4
De Paepe, A.5
Durnan, J.6
-
20
-
-
0013912750
-
A simple screening test for the Marfan syndrome
-
Steinberg DA. A simple screening test for the Marfan syndrome. AJR 1966;97:118-24.
-
(1966)
AJR
, vol.97
, pp. 118-124
-
-
Steinberg, D.A.1
-
21
-
-
85047692195
-
The wrist sign: A useful physical guide to the Marfan syndrome
-
Walker BA, Murdoch JL. The wrist sign: a useful physical guide to the Marfan syndrome. Arch Intern Med 1970;126: 276-7.
-
(1970)
Arch Intern Med
, vol.126
, pp. 276-277
-
-
Walker, B.A.1
Murdoch, J.L.2
-
23
-
-
0024396654
-
Two dimensional echocardiographic aortic root dimensions in children and adults
-
Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin B. Two dimensional echocardiographic aortic root dimensions in children and adults. Am J Cardiol 1989;64:507-12.
-
(1989)
Am J Cardiol
, vol.64
, pp. 507-512
-
-
Roman, M.J.1
Devereux, R.B.2
Kramer-Fox, R.3
O'Loughlin, B.4
-
24
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
Collod G, Babron M, Jondeau G, et al. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 1994;8:264-8.
-
(1994)
Nat Genet
, vol.8
, pp. 264-268
-
-
Collod, G.1
Babron, M.2
Jondeau, G.3
-
25
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 1994;6:64-9.
-
(1994)
Nat Genet
, vol.6
, pp. 64-69
-
-
Kainulainen, K.1
Karttunen, L.2
Puhakka, L.3
Sakai, L.4
Peltonen, L.5
-
26
-
-
0027955749
-
Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15
-
Milewicz D, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 1994;54:447-53.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 447-453
-
-
Milewicz, D.1
Duvic, M.2
-
27
-
-
0026740962
-
Marfan phenotype variability segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene
-
Deitz H, Pyeritz R, Puffenberger E, et al. Marfan phenotype variability segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 1992;89:1674-80.
-
(1992)
J Clin Invest
, vol.89
, pp. 1674-1680
-
-
Deitz, H.1
Pyeritz, R.2
Puffenberger, E.3
-
28
-
-
7144235462
-
The natural history of lens dislocation in children with the Marfan syndrome
-
Alcorn DM, Maumenee I. The natural history of lens dislocation in children with the Marfan syndrome [abst]. Am J Hum Genet 1989;45:38.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 38
-
-
Alcorn, D.M.1
Maumenee, I.2
-
30
-
-
0026510275
-
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
-
Tsipouras P, Del Mastro R, Sarfazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905-9.
-
(1992)
N Engl J Med
, vol.326
, pp. 905-909
-
-
Tsipouras, P.1
Del Mastro, R.2
Sarfazi, M.3
-
31
-
-
0027261517
-
Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan's syndrome
-
Deitz HC, McIntosh I, Sakai L, et al. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan's syndrome. Genomics 1993;17:468-75.
-
(1993)
Genomics
, vol.17
, pp. 468-475
-
-
Deitz, H.C.1
McIntosh, I.2
Sakai, L.3
-
32
-
-
0028029081
-
Two novel mutations and a neutral polymorphism in the EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients
-
Haywood J, Rae A, Porteous M, Logie L, Brock D. Two novel mutations and a neutral polymorphism in the EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. Hum Mol Genet 1994;3:373-5.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 373-375
-
-
Haywood, J.1
Rae, A.2
Porteous, M.3
Logie, L.4
Brock, D.5
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