-
1
-
-
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: 581-4.
-
(1988)
Am J Med Genet
, vol.29
, pp. 581-584
-
-
Beighton, P.1
De Paepe, A.2
Danks, D.3
-
2
-
-
0026606310
-
Molecular nosology of heritable disorders of connective tissue
-
Beighton P, De Paepe A, Hall JG, et al. Molecular nosology of heritable disorders of connective tissue. Am J Med Genet 1992; 42: 431-48.
-
(1992)
Am J Med Genet
, vol.42
, pp. 431-448
-
-
Beighton, P.1
De Paepe, A.2
Hall, J.G.3
-
3
-
-
0026879788
-
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis
-
Nusgens BV, Verellen-Dumoulin Ch, Hermanns-Lê T, et al. Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nature Genet 1992; 1: 214-17.
-
(1992)
Nature Genet
, vol.1
, pp. 214-217
-
-
Nusgens, B.V.1
Verellen-Dumoulin, Ch.2
Hermanns-Lê, T.3
-
4
-
-
0026742497
-
Human dermatosparaxis: A form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen
-
Smith LT, Wertelecki W, Milstone LM, et al. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am J Hum Genet 1992; 51: 235-44.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 235-244
-
-
Smith, L.T.1
Wertelecki, W.2
Milstone, L.M.3
-
6
-
-
0029114146
-
Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)
-
Loughlin J, Irven C, Hardwick LJ, et al. Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Hum Mol Genet 1995; 4: 1649-51.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1649-1651
-
-
Loughlin, J.1
Irven, C.2
Hardwick, L.J.3
-
7
-
-
0029886084
-
The gene encoding collagen α1 (V) (COL5A1) is linked to mixed Ehlers-Danlos Syndrome type I/II
-
Burrows NP, Nicholls AC, Yates JRW, et al. The gene encoding collagen α1 (V) (COL5A1) is linked to mixed Ehlers-Danlos Syndrome type I/II. J Invest Dermatol 1996; 106: 1273-6.
-
(1996)
J Invest Dermatol
, vol.106
, pp. 1273-1276
-
-
Burrows, N.P.1
Nicholls, A.C.2
Yates, J.R.W.3
-
8
-
-
84966163623
-
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly
-
Andrikopoulos K, Liu X, Keene DR, et al. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly. Nature Genet 1995; 9: 31-6.
-
(1995)
Nature Genet
, vol.9
, pp. 31-36
-
-
Andrikopoulos, K.1
Liu, X.2
Keene, D.R.3
-
9
-
-
0025727198
-
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV
-
Lee B, Vitale E, Superti-Furga A, et al. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem 1991; 266: 5256-9.
-
(1991)
J Biol Chem
, vol.266
, pp. 5256-5259
-
-
Lee, B.1
Vitale, E.2
Superti-Furga, A.3
-
10
-
-
0016302483
-
Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies
-
Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 1974; 58: 588-97.
-
(1974)
Am J Hum Genet
, vol.58
, pp. 588-597
-
-
Ott, J.1
-
11
-
-
0028930442
-
COL5A1: Fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberose sclerosis 1, hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome type II
-
Greenspan DS, Northrup H, Au K-S, et al. COL5A1: Fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberose sclerosis 1, hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome type II. Genomics 1995; 25: 737-9.
-
(1995)
Genomics
, vol.25
, pp. 737-739
-
-
Greenspan, D.S.1
Northrup, H.2
Au, K.-S.3
-
12
-
-
0002367822
-
The Ehlers-Danlos syndrome
-
Royce PM, Steinmann B, eds. New York: Wiley-Liss
-
Steinmann B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B, eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley-Liss, 1993: 351-407.
-
(1993)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects
, pp. 351-407
-
-
Steinmann, B.1
Royce, P.M.2
Superti-Furga, A.3
-
13
-
-
0024526477
-
Cartilage contains mixed fibrils of collagen types II, IX, and XI
-
Mendler M, Eich-Bender SG, Vaughan L, et al. Cartilage contains mixed fibrils of collagen types II, IX, and XI. J Cell Biol 1989; 108: 191-7.
-
(1989)
J Cell Biol
, vol.108
, pp. 191-197
-
-
Mendler, M.1
Eich-Bender, S.G.2
Vaughan, L.3
-
14
-
-
0025343595
-
Collagen fibrillogenesis in vitro: Interaction of types I and V collagen regulates fibril diameter
-
Birk DE, Fitch JM, Babiarz JP, et al. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter. J Cell Sci 1990; 95: 649-57.
-
(1990)
J Cell Sci
, vol.95
, pp. 649-657
-
-
Birk, D.E.1
Fitch, J.M.2
Babiarz, J.P.3
-
15
-
-
0027315418
-
2-terminal domain, a putative regulator of corneal fibrillogenesis
-
2-terminal domain, a putative regulator of corneal fibrillogenesis. J Cell Biol 1993; 121: 1181-9.
-
(1993)
J Cell Biol
, vol.121
, pp. 1181-1189
-
-
Linsenmayer, T.F.1
Gibney, E.2
Igoe, F.3
-
17
-
-
0024100337
-
Genetic distance of two fibrillar collagen loci. COL3A1 and COL5A2 located on the long arm of chromosome 2
-
Tsipouras P, Schwartz RC, Liddel AC, et al. Genetic distance of two fibrillar collagen loci. COL3A1 and COL5A2 located on the long arm of chromosome 2. Genomics 1988; 3: 275-7.
-
(1988)
Genomics
, vol.3
, pp. 275-277
-
-
Tsipouras, P.1
Schwartz, R.C.2
Liddel, A.C.3
|