-
1
-
-
0032574641
-
Ehlers-Danlos syndrome: Revised nosology, Villefranche, 1997
-
Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndrome: Revised nosology, Villefranche, 1997. Am J Med Genet 1998; 77: 31-37.
-
(1998)
Am J Med Genet
, vol.77
, pp. 31-37
-
-
Beighton, P.1
De Paepe, A.2
Steinmann, B.3
Tsipouras, P.4
Wenstrup, R.J.5
-
2
-
-
0031831307
-
The human collagen mutation database 1998
-
Dalgleish R. The human collagen mutation database 1998. Nucleic Acids Res 1998; 26: 253-255.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 253-255
-
-
Dalgleish, R.1
-
3
-
-
10344257996
-
Bleeding and bruising in individuals with Ehlers-Danlos syndrome and other collagen vascular disorders
-
De Paepe A, Malfait F. Bleeding and bruising in individuals with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 2004; 127: 491-500.
-
(2004)
Br J Haematol
, vol.127
, pp. 491-500
-
-
De Paepe, A.1
Malfait, F.2
-
4
-
-
18244366657
-
Ehlers-Danlos syndrome type IV with few extrathoracic findings: A newly recognized point mutation in the COL3A1 gene
-
Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with few extrathoracic findings: A newly recognized point mutation in the COL3A1 gene. Eur Respir J 2002; 19: 195-198.
-
(2002)
Eur Respir J
, vol.19
, pp. 195-198
-
-
Watanabe, A.1
Kawabata, Y.2
Okada, O.3
Tanabe, N.4
Kimura, H.5
Hatamochi, A.6
-
5
-
-
0035130985
-
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis
-
Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. J Intern Med 2001; 249: 103-108.
-
(2001)
J Intern Med
, vol.249
, pp. 103-108
-
-
Nishiyama, Y.1
Nejima, J.2
Watanabe, A.3
Kotani, E.4
Sakai, N.5
Hatamochi, A.6
-
6
-
-
0024356609
-
Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen: Differences in protein structure from type I procollagen and conservation of codon preferences
-
Ala-Kokko L, Kontusaari S, Baldwin CT, Kuivaniemi H, Prockop DJ. Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen: Differences in protein structure from type I procollagen and conservation of codon preferences. Biochem J 1989; 260: 509-516.
-
(1989)
Biochem J
, vol.260
, pp. 509-516
-
-
Ala-Kokko, L.1
Kontusaari, S.2
Baldwin, C.T.3
Kuivaniemi, H.4
Prockop, D.J.5
-
7
-
-
0034841666
-
Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes
-
Valkkila M, Melkoniemi M, Kvist L, Kuivaniemi H, Tromp G, Ala-Kokko L. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix Biol 2001; 20: 357-366.
-
(2001)
Matrix Biol
, vol.20
, pp. 357-366
-
-
Valkkila, M.1
Melkoniemi, M.2
Kvist, L.3
Kuivaniemi, H.4
Tromp, G.5
Ala-Kokko, L.6
-
8
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673-680.
-
(2000)
N Engl J Med
, vol.342
, pp. 673-680
-
-
Pepin, M.1
Schwarze, U.2
Superti-Furga, A.3
Byers, P.H.4
-
9
-
-
22044433881
-
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience
-
Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience. J Vasc Surg 2005; 42: 98-106.
-
(2005)
J Vasc Surg
, vol.42
, pp. 98-106
-
-
Oderich, G.S.1
Panneton, J.M.2
Bower, T.C.3
Lindor, N.M.4
Cherry, K.J.5
Noel, A.A.6
-
10
-
-
19744375136
-
Effect of L-arginine on collagen of high flow-induced pulmonary arterial remodeling
-
Junbao D, Hui Y, Bing W, Jian L, Jianguang Q, Chaoshu T. Effect of L-arginine on collagen of high flow-induced pulmonary arterial remodeling. Circ J 2005; 69: 603-608.
-
(2005)
Circ J
, vol.69
, pp. 603-608
-
-
Junbao, D.1
Hui, Y.2
Bing, W.3
Jian, L.4
Jianguang, Q.5
Chaoshu, T.6
-
11
-
-
27644492323
-
Down-regulation of endogenous hydrogen sulfide pathway in pulmonary hypertension and pulmonary vascular structural remodeling induced by high pulmonary blood flow in rats
-
Xiaohui L, Junbao D, Lin S, Jian L, Xiuying T, Jianguang Q, et al. Down-regulation of endogenous hydrogen sulfide pathway in pulmonary hypertension and pulmonary vascular structural remodeling induced by high pulmonary blood flow in rats. Circ J 2005; 69: 1418-1424.
-
(2005)
Circ J
, vol.69
, pp. 1418-1424
-
-
Xiaohui, L.1
Junbao, D.2
Lin, S.3
Jian, L.4
Xiuying, T.5
Jianguang, Q.6
-
12
-
-
5044236064
-
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders
-
Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 2004; 24: 330-337.
-
(2004)
Hum Mutat
, vol.24
, pp. 330-337
-
-
Persikov, A.V.1
Pillitteri, R.J.2
Amin, P.3
Schwarze, U.4
Byers, P.H.5
Brodsky, B.6
-
13
-
-
0030894945
-
-
Anderson DW, Thakker-Varia S, Stolle CA. Recurrent COL3A1 mutation results in EDS IV or familial aneurysms. Hum Mutat 1997; 9: 475.
-
Anderson DW, Thakker-Varia S, Stolle CA. Recurrent COL3A1 mutation results in EDS IV or familial aneurysms. Hum Mutat 1997; 9: 475.
-
-
-
-
14
-
-
0025370518
-
Inheritance of an RNA splicing mutation (G+1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: Phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV
-
Kontusaari S, Tromp G, Kuivaniemi H, Ladda RL, Prockop DJ. Inheritance of an RNA splicing mutation (G+1 IVS20) in the type III procollagen gene (COL3A1) 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 1990; 47: 112-120.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 112-120
-
-
Kontusaari, S.1
Tromp, G.2
Kuivaniemi, H.3
Ladda, R.L.4
Prockop, D.J.5
-
15
-
-
0034241914
-
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays
-
Giunta C, Steinmann B. Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat 2000; 16: 176-177.
-
(2000)
Hum Mutat
, vol.16
, pp. 176-177
-
-
Giunta, C.1
Steinmann, B.2
-
17
-
-
0043133664
-
Ehlers-Danlos syndrome type IV: Unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
-
Kroes HY, Pals G, van Essen AJ. Ehlers-Danlos syndrome type IV: Unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clin Genet 2003; 63: 224-227.
-
(2003)
Clin Genet
, vol.63
, pp. 224-227
-
-
Kroes, H.Y.1
Pals, G.2
van Essen, A.J.3
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