-
1
-
-
0034050792
-
The Marfan syndrome
-
Pyeritz RE. The Marfan syndrome. Ann Rev Med 2000,51:481-510.
-
(2000)
Ann Rev Med
, vol.51
, pp. 481-510
-
-
Pyeritz, R.E.1
-
2
-
-
0028626352
-
Marfan syndrome and other microfibrillar diseases
-
Harris H, Hirschhorn K, eds. New York: Plenum Press
-
Dietz H, Ramirez F, Sakai L. Marfan syndrome and other microfibrillar diseases. In: Harris H, Hirschhorn K, eds. Advances in human genetics, vol 22. New York: Plenum Press, 1994:153-86.
-
(1994)
Advances in Human Genetics
, vol.22
, pp. 153-186
-
-
Dietz, H.1
Ramirez, F.2
Sakai, L.3
-
3
-
-
0018393854
-
The Marfan syndrome: Diagnosis and management
-
Pyeritz RE, 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.E.1
McKusick, V.A.2
-
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
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A, Devereux RB, Dietz HC, et al. 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
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
-
7
-
-
0033546896
-
Dural ectasia and the diagnosis of Marfan's syndrome
-
de Paepe A. Dural ectasia and the diagnosis of Marfan's syndrome. Lancet 1999;354:878-9.
-
(1999)
Lancet
, vol.354
, pp. 878-879
-
-
De Paepe, A.1
-
8
-
-
0000296991
-
Un cas de déformation congénitale des quatres membres, plus prononcée aux extrémités caractérisée par l'allongement des os avec un certain degree d'amincissement
-
Marfan AB. Un cas de déformation congénitale des quatres membres, plus prononcée aux extrémités caractérisée par l'allongement des os avec un certain degree d'amincissement. Bull Mem Soc Med Hop (Paris) 1896;13:220-6.
-
(1896)
Bull Mem Soc Med Hop (Paris)
, vol.13
, pp. 220-226
-
-
Marfan, A.B.1
-
9
-
-
0038123409
-
Arachnodactyly
-
Young ML. Arachnodactyly. Arch Dis Child 1929;4:190-209.
-
(1929)
Arch Dis Child
, vol.4
, pp. 190-209
-
-
Young, M.L.1
-
10
-
-
67650962259
-
Arachnodactyly and its medical complications
-
Fulcher PH, Southworth H. Arachnodactyly and its medical complications. Arch Intern Med 1938;61:693-703.
-
(1938)
Arch Intern Med
, vol.61
, pp. 693-703
-
-
Fulcher, P.H.1
Southworth, H.2
-
12
-
-
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
-
13
-
-
0023002893
-
Fibrillin, a new 350 kD glycoprotein, is a component of extracellular microfibrils
-
Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350 kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986;103:2499-509.
-
(1986)
J Cell Biol
, vol.103
, pp. 2499-2509
-
-
Sakai, L.Y.1
Keene, D.R.2
Engvall, E.3
-
14
-
-
0029023792
-
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils
-
Zhang H, Hu W, Ramirez F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 1995;129:1165-76.
-
(1995)
J Cell Biol
, vol.129
, pp. 1165-1176
-
-
Zhang, H.1
Hu, W.2
Ramirez, F.3
-
15
-
-
0031875947
-
Microfibril-associated glycoprotein-2 (MAGP-2) is specifically associated with fibrillin-containing microfibrils but exhibits more restricted patterns of tissue localisation and developmental expression than its structural relative MAGP-1
-
Gibson MA, Finnis ML, Kumaratilake JS, et al. Microfibril-associated glycoprotein-2 (MAGP-2) is specifically associated with fibrillin-containing microfibrils but exhibits more restricted patterns of tissue localisation and developmental expression than its structural relative MAGP-1. J Histochem Cytochem 1998;46:871-8.
-
(1998)
J Histochem Cytochem
, vol.46
, pp. 871-878
-
-
Gibson, M.A.1
Finnis, M.L.2
Kumaratilake, J.S.3
-
16
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo nonsense mutation in the fibrillin gene
-
Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo nonsense 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
-
17
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
Collod G, Babron MC, 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.C.2
Jondeau, G.3
-
18
-
-
0025985435
-
Mitochondrial abnormalities in the postviral fatigue syndrome
-
Behan WMH, More IAR, Behan PO. Mitochondrial abnormalities in the postviral fatigue syndrome. Acta Neuropathol 1991;83:61-5.
-
(1991)
Acta Neuropathol
, vol.83
, pp. 61-65
-
-
Behan, W.M.H.1
More, I.A.R.2
Behan, P.O.3
-
19
-
-
0002625087
-
Multiple immunolabelling techniques
-
Beesley JE, ed. Oxford: Oxford University Press
-
Beesley JE. Multiple immunolabelling techniques, in: Beesley JE, ed. Immunocytochemistry. A practical approach. Oxford: Oxford University Press, 1993:103-25.
-
(1993)
Immunocytochemistry. A Practical Approach
, pp. 103-125
-
-
Beesley, J.E.1
-
20
-
-
0029052915
-
Fifteen novel FBN 1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
-
Nijbroek G, Sood S, McIntosh I, et al. Fifteen novel FBN 1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995;57:8-21.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 8-21
-
-
Nijbroek, G.1
Sood, S.2
McIntosh, I.3
-
21
-
-
0028292451
-
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome
-
Pereira L, Levran O, Ramirez, 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
Ramirez3
-
24
-
-
0014705967
-
A calcitonin-secreting medullary thyroid carcinoma associated with mucosal neuromas, marfanoid features, myopathy and pigmentation
-
Cunliffe WJ, Hudgson P, Fulthorpe JJ, et al. A calcitonin-secreting medullary thyroid carcinoma associated with mucosal neuromas, marfanoid features, myopathy and pigmentation. Am J Med 1970;48:120-6.
-
(1970)
Am J Med
, vol.48
, pp. 120-126
-
-
Cunliffe, W.J.1
Hudgson, P.2
Fulthorpe, J.J.3
-
25
-
-
0015709753
-
Myopathy associated with Marfan's syndrome
-
Goebel HH, Muller J, DeMyer W. Myopathy associated with Marfan's syndrome. Neurology 1973;23:1257-68.
-
(1973)
Neurology
, vol.23
, pp. 1257-1268
-
-
Goebel, H.H.1
Muller, J.2
DeMyer, W.3
-
26
-
-
0018841169
-
Ocular myopathy and Marfan's syndrome. A family study
-
Gross MLP, Teoh R, Legg NJ, et al. Ocular myopathy and Marfan's syndrome. A family study. J Neurol Sci 1980;46:105-12.
-
(1980)
J Neurol Sci
, vol.46
, pp. 105-112
-
-
Gross, M.L.P.1
Teoh, R.2
Legg, N.J.3
-
27
-
-
0018903525
-
Centronuclear myopathy with type 1 fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome
-
Jadro-Santel D, Grcevic N, Dogan S, et al. Centronuclear myopathy with type 1 fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome. J Neurol Sci 1980;45:43-56.
-
(1980)
J Neurol Sci
, vol.45
, pp. 43-56
-
-
Jadro-Santel, D.1
Grcevic, N.2
Dogan, S.3
-
28
-
-
0019312619
-
Arachnodactyly with unusual neuromyopathic and skeletal abnormalities
-
Barrison IG, Isenberg DA, Kane SP. Arachnodactyly with unusual neuromyopathic and skeletal abnormalities. J R Soc Med 1980;73:64-8.
-
(1980)
J R Soc Med
, vol.73
, pp. 64-68
-
-
Barrison, I.G.1
Isenberg, D.A.2
Kane, S.P.3
-
29
-
-
0021721776
-
Familial myopathy associated with Marfanoid features and multicores
-
Joyce DA, Mastaglia FL, Ojeda VJ, et al. Familial myopathy associated with Marfanoid features and multicores. Aust NZ J Med 1984;14:495-9.
-
(1984)
Aust NZ J Med
, vol.14
, pp. 495-499
-
-
Joyce, D.A.1
Mastaglia, F.L.2
Ojeda, V.J.3
-
30
-
-
0021985859
-
Multicore disease and Marfan's syndrome: A case report
-
Pagès M, Echenne B, Pagès A-M, et al. Multicore disease and Marfan's syndrome: a case report. Eur Neurol 1985;24:170-5.
-
(1985)
Eur Neurol
, vol.24
, pp. 170-175
-
-
Pagès, M.1
Echenne, B.2
Pagès, A.-M.3
-
31
-
-
0022994204
-
Marfan's syndrome and familial tomaculous neuropathy. A case of fortuitous association
-
Eymard B, Tome FMS, Brunet P, et al. Marfan's syndrome and familial tomaculous neuropathy. A case of fortuitous association. Rev Neurol (Paris) 1986;142:703-5.
-
(1986)
Rev Neurol (Paris)
, vol.142
, pp. 703-705
-
-
Eymard, B.1
Tome, F.M.S.2
Brunet, P.3
-
32
-
-
0028540296
-
A rare combination of Marfan's syndrome, rheumatic heart disease and muscular dystrophy - A case report
-
Kumar P, Gupta D, Sagar RK. A rare combination of Marfan's syndrome, rheumatic heart disease and muscular dystrophy - a case report. Indian Heart J 1994;46:351-2.
-
(1994)
Indian Heart J
, vol.46
, pp. 351-352
-
-
Kumar, P.1
Gupta, D.2
Sagar, R.K.3
-
33
-
-
0015322684
-
New syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896
-
Hecht F, Beals RK. New syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 1972;49:574-9.
-
(1972)
Pediatrics
, vol.49
, pp. 574-579
-
-
Hecht, F.1
Beals, R.K.2
-
34
-
-
0028828221
-
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
-
Putnam EA, Zhang H, Ramirez F, et al. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet 1995;11:456-8.
-
(1995)
Nat Genet
, vol.11
, pp. 456-458
-
-
Putnam, E.A.1
Zhang, H.2
Ramirez, F.3
-
35
-
-
0027261517
-
Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
-
Dietz H, McIntoch I, Sakai LY, et al. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 1993;17:468-75.
-
(1993)
Genomics
, vol.17
, pp. 468-475
-
-
Dietz, H.1
McIntoch, I.2
Sakai, L.Y.3
-
36
-
-
0002845186
-
The embryonic origin of muscle
-
Engel AG, Franzini-Armstrong C, eds. New York: McGraw Hill
-
Hauschka SD. The embryonic origin of muscle. In: Engel AG, Franzini-Armstrong C, eds. Myology, basic and clinical, 2nd ed. New York: McGraw Hill, 1994:19.
-
(1994)
Myology, Basic and Clinical, 2nd Ed.
, pp. 19
-
-
Hauschka, S.D.1
-
37
-
-
0033401673
-
Molecular analysis of eight mutations in FBN1
-
Halliday D, Hutchinson S, Kettle S, et al. Molecular analysis of eight mutations in FBN1. Hum Genet 1999;105:587-97.
-
(1999)
Hum Genet
, vol.105
, pp. 587-597
-
-
Halliday, D.1
Hutchinson, S.2
Kettle, S.3
-
38
-
-
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;161:2447-54.
-
(2001)
Arch Intern Med
, vol.161
, pp. 2447-2454
-
-
Loeys, B.1
Nuytinck, L.2
Delvaux, I.3
-
39
-
-
0036197411
-
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
-
Matyas G, De Paepe A, Halliday D, et al. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat 2002;19:443-56.
-
(2002)
Hum Mutat
, vol.19
, pp. 443-456
-
-
Matyas, G.1
De Paepe, A.2
Halliday, D.3
|