-
1
-
-
0017373627
-
A 20 year prospective follow-up of childhood hiatus hernia
-
Astley R (1977): A 20 year prospective follow-up of childhood hiatus hernia. Br J Radiol 50:400-407.
-
(1977)
Br J Radiol
, vol.50
, pp. 400-407
-
-
Astley, R.1
-
2
-
-
0014589377
-
The radiology of Ehlers-Danlos
-
Beighton P, Thomas ML (1969): The radiology of Ehlers-Danlos. Clin Radiol 20:354-361.
-
(1969)
Clin Radiol
, vol.20
, pp. 354-361
-
-
Beighton, P.1
Thomas, M.L.2
-
3
-
-
0025801891
-
Neonatal Marfan syndrome with congenital archnodactyly, flexion contractures, and severe cardiac valve insufficiency
-
Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE (1991): Neonatal Marfan syndrome with congenital archnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet 28:267-273.
-
(1991)
J Med Genet
, vol.28
, pp. 267-273
-
-
Buntinx, I.M.1
Willems, P.J.2
Spitaels, S.E.3
Van Reempst, P.J.4
De Paepe, A.M.5
Dumon, J.E.6
-
4
-
-
0021191937
-
Homozygosity for autosomal dominant Marfan syndrome
-
Chemke J, Nisani R, Feigl A, Garty R, Cooper M, Barash Y, Duskin D (1984): Homozygosity for autosomal dominant Marfan syndrome. J Med Genet 21:173-177.
-
(1984)
J Med Genet
, vol.21
, pp. 173-177
-
-
Chemke, J.1
Nisani, R.2
Feigl, A.3
Garty, R.4
Cooper, M.5
Barash, Y.6
Duskin, D.7
-
5
-
-
0029971236
-
Revised diagnostic criteria for the Marfan Syndrome
-
De Paepe A, Devereux RB, Dietz HC, Hennekam CM and Pyeritz RE (1996): Revised diagnostic criteria for the Marfan Syndrome. Am J Med Genet 32:417-426.
-
(1996)
Am J Med Genet
, vol.32
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, C.M.4
Pyeritz, R.E.5
-
6
-
-
33749691890
-
The professional prospective Ehlers-Danlos syndrome: Obstetric and genetic considerations
-
the official newsletter of Ehlers Danlos National Foundation
-
Drugan A, Evans MI (1988): The professional prospective Ehlers-Danlos syndrome: Obstetric and genetic considerations. Loose Connections (the official newsletter of Ehlers Danlos National Foundation 3(3):1-19.
-
(1988)
Loose Connections
, vol.3
, Issue.3
, pp. 1-19
-
-
Drugan, A.1
Evans, M.I.2
-
7
-
-
0022408998
-
Variable clinical presentation of cutis laxa
-
Fitzimmons JS, Fitzimmons EM, Guibert PR, Zaldua V, Dodd KL (1985): Variable clinical presentation of cutis laxa. Clin Genet 28:284-295.
-
(1985)
Clin Genet
, vol.28
, pp. 284-295
-
-
Fitzimmons, J.S.1
Fitzimmons, E.M.2
Guibert, P.R.3
Zaldua, V.4
Dodd, K.L.5
-
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 MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H (1995): 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 56:1287-1296.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1287-1296
-
-
Francke, U.1
Berg, M.A.2
Tynan, K.3
Brenn, T.4
Liu, W.5
Aoyama, T.6
Gasner, C.7
Miller, D.C.8
Furthmayr, H.9
-
9
-
-
0024405879
-
Severe perinatal Marfan syndrome
-
Gross DM, Robinson LK, Smith LT, Glass N, Rosenberg H, Duvic M (1989): Severe perinatal Marfan syndrome. Pediatrics 84:83-89.
-
(1989)
Pediatrics
, vol.84
, pp. 83-89
-
-
Gross, D.M.1
Robinson, L.K.2
Smith, L.T.3
Glass, N.4
Rosenberg, H.5
Duvic, M.6
-
10
-
-
0014137099
-
Marfan's syndrome - Diagnosis in a neonate
-
Heldrich Jr, FJ, Wright CE (1967). Marfan's syndrome - diagnosis in a neonate. Amer J Dis Child 114:419-423.
-
(1967)
Amer J Dis Child
, vol.114
, pp. 419-423
-
-
Heldrich Jr., F.J.1
Wright, C.E.2
-
11
-
-
0025335330
-
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
-
Hollister DW, Godfrey M, Sakai LY, Pyeritz RE (1990): Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 323:152-159.
-
(1990)
N Engl J Med
, vol.323
, pp. 152-159
-
-
Hollister, D.W.1
Godfrey, M.2
Sakai, L.Y.3
Pyeritz, R.E.4
-
12
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
Kainulainen K, Kartunnen L, Puhakka L, Sakai L, Peltonen L (1994): Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nature Genet 6:64-69.
-
(1994)
Nature Genet
, vol.6
, pp. 64-69
-
-
Kainulainen, K.1
Kartunnen, L.2
Puhakka, L.3
Sakai, L.4
Peltonen, L.5
-
13
-
-
0025018011
-
Location on chromosome 15 of the gene defect causing Marfan syndrome
-
Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L (1990): Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 323:935-939.
-
(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
-
14
-
-
0025900544
-
Linkage of Marfan syndrome and a phenotypically related disorder to different fibrillin genes
-
Lee B, Godfrey M, Vitale (1991): Linkage of Marfan syndrome and a phenotypically related disorder to different fibrillin genes. Nature 352: 330-334.
-
(1991)
Nature
, vol.352
, pp. 330-334
-
-
Lee, B.1
Godfrey, M.2
Vitale3
-
15
-
-
0000296991
-
Un cas de deformation des quatre membres, plus prononcee aux extremities, characterisee par l'allongement des os, avec un certain degre d'amincissement
-
Paris
-
Marfan AB (1896): Un cas de deformation des quatre membres, plus prononcee aux extremities, characterisee par l'allongement des os, avec un certain degre d'amincissement. Bull Mem Soc Hop (Paris) 13:220-226.
-
(1896)
Bull Mem Soc Hop
, vol.13
, pp. 220-226
-
-
Marfan, A.B.1
-
16
-
-
0025862134
-
Partial sequence of a candidate gene for the Marfan syndrome
-
Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY (1991): Partial sequence of a candidate gene for the Marfan syndrome. Nature 352:334-337.
-
(1991)
Nature
, vol.352
, pp. 334-337
-
-
Maslen, C.L.1
Corson, G.M.2
Maddox, B.K.3
Glanville, R.W.4
Sakai, L.Y.5
-
17
-
-
0025651697
-
Diagnosis and management of infantile Marfan syndrome
-
Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, Macleod P, Hall B, Graham JM (1990): Diagnosis and management of infantile Marfan syndrome. Pediatrics 86:888-895.
-
(1990)
Pediatrics
, vol.86
, pp. 888-895
-
-
Morse, R.P.1
Rockenmacher, S.2
Pyeritz, R.E.3
Sanders, S.P.4
Bieber, F.R.5
Lin, A.6
Macleod, P.7
Hall, B.8
Graham, J.M.9
-
18
-
-
0025143047
-
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: Report of a brother and sister from Turkey
-
Ogur G, Yuksel-Apak M, Demiryont M (1990): Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: Report of a brother and sister from Turkey. Am J Med Genet 37:6-9.
-
(1990)
Am J Med Genet
, vol.37
, pp. 6-9
-
-
Ogur, G.1
Yuksel-Apak, M.2
Demiryont, M.3
-
19
-
-
0018393854
-
The Marfan syndrome: Diagnosis and management
-
Pyeritz RE, McKusick VA (1979): The Marfan syndrome: Diagnosis and management. N Engl J Med 300:772-777.
-
(1979)
N Engl J Med
, vol.300
, pp. 772-777
-
-
Pyeritz, R.E.1
McKusick, V.A.2
-
22
-
-
0020581302
-
The Marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age
-
Sisk HE, Zahka KG, Pyeritz RE (1983): The Marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol 52:353-358.
-
(1983)
Am J Cardiol
, vol.52
, pp. 353-358
-
-
Sisk, H.E.1
Zahka, K.G.2
Pyeritz, R.E.3
-
23
-
-
0027052996
-
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome
-
Superti-Furga A, Raghunath M, Willems PJ (1992): Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. J Med Genet 29:875-878.
-
(1992)
J Med Genet
, vol.29
, pp. 875-878
-
-
Superti-Furga, A.1
Raghunath, M.2
Willems, P.J.3
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