-
1
-
-
0028853398
-
Genetic models of human vascular disease
-
Dzau VJ Genetic models of human vascular disease Circulation 91 1995 521 531
-
(1995)
Circulation
, vol.91
, pp. 521-531
-
-
Dzau, VJ1
-
2
-
-
0025862134
-
Partial sequence of a candidate gene for the Marfan syndrome
-
Maslen CL Partial sequence of a candidate gene for the Marfan syndrome Nature 352 1991 334 337
-
(1991)
Nature
, vol.352
, pp. 334-337
-
-
Maslen, CL1
-
3
-
-
0025900544
-
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
-
Lee B Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes Nature 352 1991 330 334
-
(1991)
Nature
, vol.352
, pp. 330-334
-
-
Lee, B1
-
4
-
-
0025977581
-
On the inheritance of abdominal aortic aneurysm
-
Majumder PP On the inheritance of abdominal aortic aneurysm Am J Hum Genet 48 1991 164 170
-
(1991)
Am J Hum Genet
, vol.48
, pp. 164-170
-
-
Majumder, PP1
-
5
-
-
0025370518
-
Inheritance of an RNA splicing mutation (G + 1IVS20) in the type III procollagen gene (COL3AI) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV
-
IVS20) in the type III procollagen gene (COL3AI) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV Am J Hum Genet 47 1990 112 120
-
(1990)
Am J Hum Genet
, vol.47
, pp. 112-120
-
-
Kontusaari, S1
-
6
-
-
85114536042
-
Patients with Ehlers-Danlos syndrome type IV lack type III collagen
-
Pope FM Patients with Ehlers-Danlos syndrome type IV lack type III collagen Proc Nat Acad Sci USA 72 1975 1314 1316
-
(1975)
, pp. 1314-1316
-
-
Pope, FM1
-
7
-
-
0004157470
-
The Ehlers-Danlos syndrome
-
Beighton P The Ehlers-Danlos syndrome 1970 Heinemann London
-
(1970)
-
-
Beighton, P1
-
8
-
-
0024431714
-
Inherited disorders of collagen gene structure and expression
-
Byers PH Inherited disorders of collagen gene structure and expression Am J Med Genet 34 1989 72 80
-
(1989)
Am J Med Genet
, vol.34
, pp. 72-80
-
-
Byers, PH1
-
9
-
-
0023747383
-
Clinical presentations of Ehlers-Danlos syndrome type IV
-
Pope Clinical presentations of Ehlers-Danlos syndrome type IV Archiv Dis Childh 63 1988 1016 1025
-
(1988)
Archiv Dis Childh
, vol.63
, pp. 1016-1025
-
-
Pope1
-
10
-
-
0020059304
-
Vascular manifestations in patients with Ehlers-Danlos syndrome
-
Hunter GC Vascular manifestations in patients with Ehlers-Danlos syndrome Arch Surg 117 1982 495 498
-
(1982)
Arch Surg
, vol.117
, pp. 495-498
-
-
Hunter, GC1
-
11
-
-
0025075293
-
Spontaneous rupture of the external iliac artery in a patient with Ehlers-Danlos syndrome type IV
-
Van Selms WG Spontaneous rupture of the external iliac artery in a patient with Ehlers-Danlos syndrome type IV Eur J Vasc Surg 4 1990 419 421
-
(1990)
Eur J Vasc Surg
, vol.4
, pp. 419-421
-
-
Van Selms, WG1
-
12
-
-
0027177093
-
Two vascular complications of the Ehlers-Danlos syndrome
-
Brearly S Two vascular complications of the Ehlers-Danlos syndrome Eur J Vasc Surg 7 1993 210 213
-
(1993)
Eur J Vasc Surg
, vol.7
, pp. 210-213
-
-
Brearly, S1
-
13
-
-
0023944379
-
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen
-
Superti-Furga A Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen J Biol Chem 263 1988 6226 6232
-
(1988)
J Biol Chem
, vol.263
, pp. 6226-6232
-
-
Superti-Furga, A1
-
14
-
-
0028324460
-
Single strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV
-
Nuytinck L Single strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV Hum Mutat 3 1994 268 274
-
(1994)
Hum Mutat
, vol.3
, pp. 268-274
-
-
Nuytinck, L1
-
15
-
-
0028073484
-
Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management
-
De Paepe A Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management Dermatology 189 Suppl. 2 1994 21 25
-
(1994)
Dermatology
, vol.189
, Issue.Suppl. 2
, pp. 21-25
-
-
De Paepe, A1
-
16
-
-
0028220223
-
Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I–IV as a means of diagnostics and classification
-
Hausser I Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I–IV as a means of diagnostics and classification Hum Genet 93 1994 394 407
-
(1994)
Hum Genet
, vol.93
, pp. 394-407
-
-
Hausser, I1
-
17
-
-
0028136032
-
Pathomorphological and biochemical alterations in Ehlers-Danlos syndrome type IV
-
Nerlich AG Pathomorphological and biochemical alterations in Ehlers-Danlos syndrome type IV Pathol Res Pract 190 1994 697 707
-
(1994)
Pathol Res Pract
, vol.190
, pp. 697-707
-
-
Nerlich, AG1
-
18
-
-
0029902127
-
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
-
(In press) Pope FM COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture Br J Dermat 1996
-
(1996)
Br J Dermat
-
-
Pope, FM1
|