-
1
-
-
77950381244
-
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
-
Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., Alikasifoglu M., Tuncbilek E., Orhan D., Bakar F.T., et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am. J. Hum. Genet. 2010, 86:551-559.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 551-559
-
-
Alanay, Y.1
Avaygan, H.2
Camacho, N.3
Utine, G.E.4
Boduroglu, K.5
Aktas, D.6
Alikasifoglu, M.7
Tuncbilek, E.8
Orhan, D.9
Bakar, F.T.10
-
2
-
-
0036744260
-
Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases
-
Ameye L., Young M.F. Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases. Glycobiology 2002, 12:107R-116R.
-
(2002)
Glycobiology
, vol.12
-
-
Ameye, L.1
Young, M.F.2
-
3
-
-
0014191656
-
Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s)
-
Barabas A.P. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s). Br. Med. J. 1967, 2:612-613.
-
(1967)
Br. Med. J.
, vol.2
, pp. 612-613
-
-
Barabas, A.P.1
-
4
-
-
84862780507
-
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
-
Baumann M., Giunta C., Krabichler B., Rüschendorf F., Zoppi N., Colombi M., Bittner R.E., Quijano-Roy S., Muntoni F., Cirak S., et al. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am. J. Hum. Genet. 2012, 90:201-216.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 201-216
-
-
Baumann, M.1
Giunta, C.2
Krabichler, B.3
Rüschendorf, F.4
Zoppi, N.5
Colombi, M.6
Bittner, R.E.7
Quijano-Roy, S.8
Muntoni, F.9
Cirak, S.10
-
5
-
-
0014510966
-
Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients
-
Beighton P., Price A., Lord J., Dickson E. Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients. Ann. Rheum. Dis. 1969, 28:228-245.
-
(1969)
Ann. Rheum. Dis.
, vol.28
, pp. 228-245
-
-
Beighton, P.1
Price, A.2
Lord, J.3
Dickson, E.4
-
6
-
-
0032574641
-
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)
-
Beighton P., De Paepe A., Steinmann B., Tsipouras P., Wenstrup R.J. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 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
-
7
-
-
0015069245
-
Evidence for procollagen, a biosynthetic precursors of collagen
-
Bellamy G., Bornstein P. Evidence for procollagen, a biosynthetic precursors of collagen. Proc. Natl. Acad. Sci. U. S. A. 1971, 68:1138-1142.
-
(1971)
Proc. Natl. Acad. Sci. U. S. A.
, vol.68
, pp. 1138-1142
-
-
Bellamy, G.1
Bornstein, P.2
-
8
-
-
0035219340
-
Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly
-
Birk D.E. Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly. Micron 2001, 32:223-237.
-
(2001)
Micron
, vol.32
, pp. 223-237
-
-
Birk, D.E.1
-
9
-
-
0025343595
-
Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter
-
Birk D.E., Fitch J.M., Babiarz J.P., Doane K.J., Linsenmayer T.F. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter. J. Cell Sci. 1990, 95(Pt 4):649-657.
-
(1990)
J. Cell Sci.
, vol.95
, Issue.PART 4
, pp. 649-657
-
-
Birk, D.E.1
Fitch, J.M.2
Babiarz, J.P.3
Doane, K.J.4
Linsenmayer, T.F.5
-
10
-
-
0030843025
-
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
-
Burch G.H., Gong Y., Liu W., Dettman R.W., Curry C.J., Smith L., Miller W.L., Bristow J. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat. Genet. 1997, 17:104-108.
-
(1997)
Nat. Genet.
, vol.17
, pp. 104-108
-
-
Burch, G.H.1
Gong, Y.2
Liu, W.3
Dettman, R.W.4
Curry, C.J.5
Smith, L.6
Miller, W.L.7
Bristow, J.8
-
11
-
-
0029886084
-
The gene encoding collagen α1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II
-
Burrows N.P., Nicholls A.C., Yates J.R.W., Gatward G., Sarathachandra P., Richards A., Pope F.M. The gene encoding collagen α1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. J. Invest. Dermatol. 1996, 106:1273-1276.
-
(1996)
J. Invest. Dermatol.
, vol.106
, pp. 1273-1276
-
-
Burrows, N.P.1
Nicholls, A.C.2
Yates, J.R.W.3
Gatward, G.4
Sarathachandra, P.5
Richards, A.6
Pope, F.M.7
-
12
-
-
0016819314
-
Interchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domain
-
Byers P.H., Click E.M., Harper E., Bornstein P. Interchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domain. Proc. Natl. Acad. Sci. U. S. A. 1975, 72:3009-3013.
-
(1975)
Proc. Natl. Acad. Sci. U. S. A.
, vol.72
, pp. 3009-3013
-
-
Byers, P.H.1
Click, E.M.2
Harper, E.3
Bornstein, P.4
-
13
-
-
0030963648
-
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen
-
Byers P.H., Duvic M., Atkinson M., Robinow M., Smith L.T., Krane S.M., Greally M.T., Ludman M., Matalon R., Pauker S., et al. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am. J. Med. Genet. 1997, 72:94-105.
-
(1997)
Am. J. Med. Genet.
, vol.72
, pp. 94-105
-
-
Byers, P.H.1
Duvic, M.2
Atkinson, M.3
Robinow, M.4
Smith, L.T.5
Krane, S.M.6
Greally, M.T.7
Ludman, M.8
Matalon, R.9
Pauker, S.10
-
14
-
-
34047239243
-
Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype
-
Cabral W.A., Makareeva E., Letocha A.D., Scribanu N., Fertala A., Steplewski A., Keene D.R., Persikov A.V., Leikin S., Marini J.C. Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Hum. Mutat. 2007, 28:396-405.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 396-405
-
-
Cabral, W.A.1
Makareeva, E.2
Letocha, A.D.3
Scribanu, N.4
Fertala, A.5
Steplewski, A.6
Keene, D.R.7
Persikov, A.V.8
Leikin, S.9
Marini, J.C.10
-
15
-
-
0027182875
-
BiP binds type I procollagen proα chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta
-
Chessler S.D., Byers P.H. BiP binds type I procollagen proα chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta. J. Biol. Chem. 1993, 268:18226-18233.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 18226-18233
-
-
Chessler, S.D.1
Byers, P.H.2
-
16
-
-
0033358540
-
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene
-
Colige A., Sieron A.L., Li S.W., Schwarze U., Petty E., Wertelecki W., Wilcox W., Krakow D., Cohn D.H., Reardon W., et al. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am. J. Hum. Genet. 1999, 65:308-317.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 308-317
-
-
Colige, A.1
Sieron, A.L.2
Li, S.W.3
Schwarze, U.4
Petty, E.5
Wertelecki, W.6
Wilcox, W.7
Krakow, D.8
Cohn, D.H.9
Reardon, W.10
-
17
-
-
4644297498
-
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene
-
Colige A., Nuytinck L., Hausser I., van Essen A.J., Thiry M., Herens C., Adès L.C., Malfait F., De Paepe A., Franck P., et al. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J. Invest. Dermatol. 2004, 123:656-663.
-
(2004)
J. Invest. Dermatol.
, vol.123
, pp. 656-663
-
-
Colige, A.1
Nuytinck, L.2
Hausser, I.3
van Essen, A.J.4
Thiry, M.5
Herens, C.6
Adès, L.C.7
Malfait, F.8
De Paepe, A.9
Franck, P.10
-
18
-
-
0002833215
-
Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabétique de MM. Hallopeau et Macé de Lépinay)
-
Danlos M. Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabétique de MM. Hallopeau et Macé de Lépinay). Bull. Soc. Fr. Dermatol. Syphiligr. 1908, 19:70-72.
-
(1908)
Bull. Soc. Fr. Dermatol. Syphiligr.
, vol.19
, pp. 70-72
-
-
Danlos, M.1
-
19
-
-
28444470470
-
Recent progress towards a molecular understanding of Marfan syndrome
-
Dietz H.C., Loeys B., Carta L., Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 2005, 139C:4-9.
-
(2005)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.139 C
, pp. 4-9
-
-
Dietz, H.C.1
Loeys, B.2
Carta, L.3
Ramirez, F.4
-
20
-
-
32444431944
-
Dermal connective tissue development in mice: an essential role for tenascin-X
-
Egging D.F., van Vlijmen I., Starcher B., Gijsen Y., Zweers M.C., Blankevoort L., Bristow J., Schalkwijk J. Dermal connective tissue development in mice: an essential role for tenascin-X. Cell Tissue Res. 2006, 323:465-474.
-
(2006)
Cell Tissue Res.
, vol.323
, pp. 465-474
-
-
Egging, D.F.1
van Vlijmen, I.2
Starcher, B.3
Gijsen, Y.4
Zweers, M.C.5
Blankevoort, L.6
Bristow, J.7
Schalkwijk, J.8
-
21
-
-
0000284894
-
Cutis laxa, neigung zu haemorrhagien in der haut, lockerung meherer artikulationen
-
Ehlers E. Cutis laxa, neigung zu haemorrhagien in der haut, lockerung meherer artikulationen. Dermatol. Z. 1901, 8:173-174.
-
(1901)
Dermatol. Z.
, vol.8
, pp. 173-174
-
-
Ehlers, E.1
-
22
-
-
3042846793
-
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type
-
Faiyaz-Ul-Haque M., Zaidi S.H., Al-Ali M., Al-Mureikhi M.S., Kennedy S., Al-Thani G., Tsui L.C., Teebi A.S. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am. J. Med. Genet. A 2004, 128A:39-45.
-
(2004)
Am. J. Med. Genet. A
, vol.128 A
, pp. 39-45
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.2
Al-Ali, M.3
Al-Mureikhi, M.S.4
Kennedy, S.5
Al-Thani, G.6
Tsui, L.C.7
Teebi, A.S.8
-
23
-
-
56649111126
-
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways
-
Fukada T., Civic N., Furuichi T., Shimoda S., Mishima K., Higashiyama H., Idaira Y., Asada Y., Kitamura H., Yamasaki S., et al. The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One 2008, 3:e3642.
-
(2008)
PLoS One
, vol.3
-
-
Fukada, T.1
Civic, N.2
Furuichi, T.3
Shimoda, S.4
Mishima, K.5
Higashiyama, H.6
Idaira, Y.7
Asada, Y.8
Kitamura, H.9
Yamasaki, S.10
-
24
-
-
44649187851
-
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
-
Giunta C., Elçioglu N.H., Albrecht B., Eich G., Chambaz C., Janecke A.R., Yeowell H., Weis M., Eyre D.R., Kraenzlin M., et al. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am. J. Hum. Genet. 2008, 82:1290-1305.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 1290-1305
-
-
Giunta, C.1
Elçioglu, N.H.2
Albrecht, B.3
Eich, G.4
Chambaz, C.5
Janecke, A.R.6
Yeowell, H.7
Weis, M.8
Eyre, D.R.9
Kraenzlin, M.10
-
25
-
-
15244344893
-
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene
-
Götte M., Kresse H. Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene. Biochem. Genet. 2005, 43:65-77.
-
(2005)
Biochem. Genet.
, vol.43
, pp. 65-77
-
-
Götte, M.1
Kresse, H.2
-
26
-
-
0023005788
-
Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome
-
Hernández A., Aguirre-Negrete M.G., González-Flores S., Reynoso-Luna M.C., Fragoso R., Nazará Z., Tapia-Arizmendi G., Cantú J.M. Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome. Clin. Genet. 1986, 30:456-461.
-
(1986)
Clin. Genet.
, vol.30
, pp. 456-461
-
-
Hernández, A.1
Aguirre-Negrete, M.G.2
González-Flores, S.3
Reynoso-Luna, M.C.4
Fragoso, R.5
Nazará, Z.6
Tapia-Arizmendi, G.7
Cantú, J.M.8
-
27
-
-
0019436389
-
Ultrastructural characteristics of the skin in a form of the Ehlers-Danlos syndrome type IV. Storage in the rough endoplasmic reticulum
-
Holbrook K.A., Byers P.H. Ultrastructural characteristics of the skin in a form of the Ehlers-Danlos syndrome type IV. Storage in the rough endoplasmic reticulum. Lab. Invest. 1981, 44:342-350.
-
(1981)
Lab. Invest.
, vol.44
, pp. 342-350
-
-
Holbrook, K.A.1
Byers, P.H.2
-
28
-
-
84871396523
-
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome
-
Jeong J., Walker J.M., Wang F., Park J.G., Palmer A.E., Giunta C., Rohrbach M., Steinmann B., Eide D.J. Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:E3530-E3538.
-
(2012)
Proc. Natl. Acad. Sci. U. S. A.
, vol.109
-
-
Jeong, J.1
Walker, J.M.2
Wang, F.3
Park, J.G.4
Palmer, A.E.5
Giunta, C.6
Rohrbach, M.7
Steinmann, B.8
Eide, D.J.9
-
29
-
-
0014915233
-
Scanning electron microscopic study of the collagen bundles of the skin in the Ehlers-Danlos syndrome
-
Julkunen H., Rokkanen P., Inoue H. Scanning electron microscopic study of the collagen bundles of the skin in the Ehlers-Danlos syndrome. Ann. Med. Exp. Biol. Fenn. 1970, 48:201-204.
-
(1970)
Ann. Med. Exp. Biol. Fenn.
, vol.48
, pp. 201-204
-
-
Julkunen, H.1
Rokkanen, P.2
Inoue, H.3
-
30
-
-
0015407865
-
Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen
-
Krane S.M., Pinnell S.R., Erbe R.W. Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proc. Natl. Acad. Sci. U. S. A. 1972, 69:2899-2903.
-
(1972)
Proc. Natl. Acad. Sci. U. S. A.
, vol.69
, pp. 2899-2903
-
-
Krane, S.M.1
Pinnell, S.R.2
Erbe, R.W.3
-
32
-
-
80051792757
-
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy
-
Leistritz D.F., Pepin M.G., Schwarze U., Byers P.H. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet. Med. 2011, 13:717-722.
-
(2011)
Genet. Med.
, vol.13
, pp. 717-722
-
-
Leistritz, D.F.1
Pepin, M.G.2
Schwarze, U.3
Byers, P.H.4
-
33
-
-
0015219009
-
Collagen made of extended-chains, procollagen, in genetically-defective dermatosparaxic calves
-
Lenaers A., Ansay M., Nusgens B.V., Lapière C.M. Collagen made of extended-chains, procollagen, in genetically-defective dermatosparaxic calves. Eur. J. Biochem. 1971, 23:533-543.
-
(1971)
Eur. J. Biochem.
, vol.23
, pp. 533-543
-
-
Lenaers, A.1
Ansay, M.2
Nusgens, B.V.3
Lapière, C.M.4
-
34
-
-
33750515305
-
A model of tenascin-X integration within the collagenous network
-
Lethias C., Carisey A., Comte J., Cluzel C., Exposito J.Y. A model of tenascin-X integration within the collagenous network. FEBS Lett. 2006, 580:6281-6285.
-
(2006)
FEBS Lett.
, vol.580
, pp. 6281-6285
-
-
Lethias, C.1
Carisey, A.2
Comte, J.3
Cluzel, C.4
Exposito, J.Y.5
-
35
-
-
0015894486
-
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome
-
Lichtenstein J.R., Martin G.R., Kohn L.D., Byers P.H., McKusick V.A. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science 1973, 182:298-300.
-
(1973)
Science
, vol.182
, pp. 298-300
-
-
Lichtenstein, J.R.1
Martin, G.R.2
Kohn, L.D.3
Byers, P.H.4
McKusick, V.A.5
-
36
-
-
0027315418
-
Type V collagen: molecular structure and fibrillar organization of the chicken α1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis
-
Linsenmayer T.F., Gibney E., Igoe F., Gordon M.K., Fitch J.M., Fessler L.I., Birk D.E. Type V collagen: molecular structure and fibrillar organization of the chicken α1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis. J. Cell Biol. 1993, 121:1181-1189.
-
(1993)
J. Cell Biol.
, vol.121
, pp. 1181-1189
-
-
Linsenmayer, T.F.1
Gibney, E.2
Igoe, F.3
Gordon, M.K.4
Fitch, J.M.5
Fessler, L.I.6
Birk, D.E.7
-
37
-
-
7244221625
-
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
-
Malfait F., De Coster P., Hausser I., van Essen A.J., Franck P., Colige A., Nusgens B., Martens L., De Paepe A. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am. J. Med. Genet. A 2004, 131:18-28.
-
(2004)
Am. J. Med. Genet. A
, vol.131
, pp. 18-28
-
-
Malfait, F.1
De Coster, P.2
Hausser, I.3
van Essen, A.J.4
Franck, P.5
Colige, A.6
Nusgens, B.7
Martens, L.8
De Paepe, A.9
-
38
-
-
11344280403
-
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients
-
Malfait F., Coucke P., Symoens S., Loeys B., Nuytinck L., De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum. Mutat. 2005, 25:28-37.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 28-37
-
-
Malfait, F.1
Coucke, P.2
Symoens, S.3
Loeys, B.4
Nuytinck, L.5
De Paepe, A.6
-
39
-
-
33746813256
-
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
-
Malfait F., Symoens S., Coucke P., Nunes L., De Almeida S., De Paepe A. Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J. Med. Genet. 2006, 43:e36.
-
(2006)
J. Med. Genet.
, vol.43
-
-
Malfait, F.1
Symoens, S.2
Coucke, P.3
Nunes, L.4
De Almeida, S.5
De Paepe, A.6
-
40
-
-
34047204759
-
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
-
Malfait F., Symoens S., De Backer J., Hermanns-Lê T., Sakalihasan N., Lapière C.M., Coucke P., De Paepe A. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum. Mutat. 2007, 28:387-395.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 387-395
-
-
Malfait, F.1
Symoens, S.2
De Backer, J.3
Hermanns-Lê, T.4
Sakalihasan, N.5
Lapière, C.M.6
Coucke, P.7
De Paepe, A.8
-
41
-
-
78049440754
-
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
-
Malfait F., Syx D., Vlummens P., Symoens S., Nampoothiri S., Hermanns-Lê T., Van Laer L., De Paepe A. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Hum. Mutat. 2010, 31:1233-1239.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 1233-1239
-
-
Malfait, F.1
Syx, D.2
Vlummens, P.3
Symoens, S.4
Nampoothiri, S.5
Hermanns-Lê, T.6
Van Laer, L.7
De Paepe, A.8
-
42
-
-
84878827787
-
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos syndrome-like connective tissue disorder
-
Malfait F., Kariminejad A., Van Damme T., Gauche C., Syx D., Merhi-Soussi F., Gulberti S., Symoens S., Vanhauwaert S., Willaert A., et al. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos syndrome-like connective tissue disorder. Am. J. Hum. Genet. 2013, 92:935-945.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 935-945
-
-
Malfait, F.1
Kariminejad, A.2
Van Damme, T.3
Gauche, C.4
Syx, D.5
Merhi-Soussi, F.6
Gulberti, S.7
Symoens, S.8
Vanhauwaert, S.9
Willaert, A.10
-
43
-
-
0036544872
-
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition
-
Mao J.R., Taylor G., Dean W.B., Wagner D.R., Afzal V., Lotz J.C., Rubin E.M., Bristow J. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat. Genet. 2002, 30:421-425.
-
(2002)
Nat. Genet.
, vol.30
, pp. 421-425
-
-
Mao, J.R.1
Taylor, G.2
Dean, W.B.3
Wagner, D.R.4
Afzal, V.5
Lotz, J.C.6
Rubin, E.M.7
Bristow, J.8
-
44
-
-
25444449878
-
Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element
-
McAlinden A., Havlioglu N., Liang L., Davies S.R., Sandell L.J. Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element. J. Biol. Chem. 2005, 280:32700-32711.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 32700-32711
-
-
McAlinden, A.1
Havlioglu, N.2
Liang, L.3
Davies, S.R.4
Sandell, L.J.5
-
45
-
-
1642641845
-
Heritable disorders of connective tissue. IV. The Ehlers-Danlos syndrome
-
McKusick V.A. Heritable disorders of connective tissue. IV. The Ehlers-Danlos syndrome. J. Chronic Dis. 1956, 3:2-24.
-
(1956)
J. Chronic Dis.
, vol.3
, pp. 2-24
-
-
McKusick, V.A.1
-
46
-
-
77955073599
-
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
-
Miyake N., Kosho T., Mizumoto S., Furuichi T., Hatamochi A., Nagashima Y., Arai E., Takahashi K., Kawamura R., Wakui K., et al. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum. Mutat. 2010, 31:966-974.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 966-974
-
-
Miyake, N.1
Kosho, T.2
Mizumoto, S.3
Furuichi, T.4
Hatamochi, A.5
Nagashima, Y.6
Arai, E.7
Takahashi, K.8
Kawamura, R.9
Wakui, K.10
-
47
-
-
84878868522
-
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
-
Nakajima M., Mizumoto S., Miyake N., Kogawa R., Iida A., Ito H., Kitoh H., Hirayama A., Mitsubuchi H., Miyazaki O., et al. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am. J. Hum. Genet. 2013, 92:927-934.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 927-934
-
-
Nakajima, M.1
Mizumoto, S.2
Miyake, N.3
Kogawa, R.4
Iida, A.5
Ito, H.6
Kitoh, H.7
Hirayama, A.8
Mitsubuchi, H.9
Miyazaki, O.10
-
48
-
-
0029839165
-
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
-
Nicholls A.C., Oliver J.E., McCarron S., Harrison J.B., Greenspan D.S., Pope F.M. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J. Med. Genet. 1996, 33:940-946.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 940-946
-
-
Nicholls, A.C.1
Oliver, J.E.2
McCarron, S.3
Harrison, J.B.4
Greenspan, D.S.5
Pope, F.M.6
-
49
-
-
0026879788
-
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis
-
Nusgens B.V., Verellen-Dumoulin C., Hermanns-Lê T., De Paepe A., Nuytinck L., Piérard G.E., Lapière C.M. Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nat. Genet. 1992, 1:214-217.
-
(1992)
Nat. Genet.
, vol.1
, pp. 214-217
-
-
Nusgens, B.V.1
Verellen-Dumoulin, C.2
Hermanns-Lê, T.3
De Paepe, A.4
Nuytinck, L.5
Piérard, G.E.6
Lapière, C.M.7
-
50
-
-
0033911541
-
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
-
Nuytinck L., Freund M., Lagae L., Pierard G.E., Hermanns-Le T., De Paepe A. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am. J. Hum. Genet. 2000, 66:1398-1402.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1398-1402
-
-
Nuytinck, L.1
Freund, M.2
Lagae, L.3
Pierard, G.E.4
Hermanns-Le, T.5
De Paepe, A.6
-
51
-
-
33845987086
-
The NH2-terminal propeptide of type I procollagen acts intracellularly to modulate cell function
-
Oganesian A., Au S., Horst J.A., Holzhausen L.C., Macy A.J., Pace J.M., Bornstein P. The NH2-terminal propeptide of type I procollagen acts intracellularly to modulate cell function. J. Biol. Chem. 2006, 281:38507-38518.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 38507-38518
-
-
Oganesian, A.1
Au, S.2
Horst, J.A.3
Holzhausen, L.C.4
Macy, A.J.5
Pace, J.M.6
Bornstein, P.7
-
52
-
-
0032857187
-
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene
-
Okajima T., Fukumoto S., Furukawa K., Urano T. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. J. Biol. Chem. 1999, 274:28841-28844.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 28841-28844
-
-
Okajima, T.1
Fukumoto, S.2
Furukawa, K.3
Urano, T.4
-
53
-
-
0018577779
-
Inhibition of procollagen cell-free synthesis by amino-terminal extension peptides
-
Paglia L., Wilczek J., de Leon L.D., Martin G.R., Hörlein D., Müller P. Inhibition of procollagen cell-free synthesis by amino-terminal extension peptides. Biochemistry 1979, 18:5030-5034.
-
(1979)
Biochemistry
, vol.18
, pp. 5030-5034
-
-
Paglia, L.1
Wilczek, J.2
de Leon, L.D.3
Martin, G.R.4
Hörlein, D.5
Müller, P.6
-
54
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
Pepin M., Schwarze U., Superti-Furga A., Byers P.H. 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
-
55
-
-
0017225076
-
Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties
-
Piérard G.E., Lapière M. Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties. J. Invest. Dermatol. 1976, 66:2-7.
-
(1976)
J. Invest. Dermatol.
, vol.66
, pp. 2-7
-
-
Piérard, G.E.1
Lapière, M.2
-
56
-
-
0021723456
-
Osteogenesis imperfecta: cloning of a pro-α2(I) collagen gene with a frameshift mutation
-
Pihlajaniemi T., Dickson L., Pope F., Korhonen V., Nicholls A., Prockop D., Myers J. Osteogenesis imperfecta: cloning of a pro-α2(I) collagen gene with a frameshift mutation. J. Biol. Chem. 1984, 259:12941-12944.
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 12941-12944
-
-
Pihlajaniemi, T.1
Dickson, L.2
Pope, F.3
Korhonen, V.4
Nicholls, A.5
Prockop, D.6
Myers, J.7
-
57
-
-
70350362523
-
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome
-
Plancke A., Holder-Espinasse M., Rigau V., Manouvrier S., Claustres M., Van Kien P.K. Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur. J. Hum. Genet. 2009, 17:1411-1416.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1411-1416
-
-
Plancke, A.1
Holder-Espinasse, M.2
Rigau, V.3
Manouvrier, S.4
Claustres, M.5
Van Kien, P.K.6
-
58
-
-
0008012216
-
Patients with Ehlers-Danlos syndrome type IV lack type III collagen
-
Pope F.M., Martin G.R., Lichtenstein J.R., Penttinen R., Gerson B., Rowe D.W., McKusick V.A. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc. Natl. Acad. Sci. U. S. A. 1975, 72:1314-1316.
-
(1975)
Proc. Natl. Acad. Sci. U. S. A.
, vol.72
, pp. 1314-1316
-
-
Pope, F.M.1
Martin, G.R.2
Lichtenstein, J.R.3
Penttinen, R.4
Gerson, B.5
Rowe, D.W.6
McKusick, V.A.7
-
60
-
-
0025098286
-
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome
-
Quentin E., Gladen A., Rodén L., Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc. Natl. Acad. Sci. U. S. A. 1990, 87:1342-1346.
-
(1990)
Proc. Natl. Acad. Sci. U. S. A.
, vol.87
, pp. 1342-1346
-
-
Quentin, E.1
Gladen, A.2
Rodén, L.3
Kresse, H.4
-
61
-
-
0038051442
-
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13
-
Rahman N., Dunstan M., Teare M.D., Hanks S., Douglas J., Coleman K., Bottomly W.E., Campbell M.E., Berglund B., Nordenskjöld M., et al. Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am. J. Hum. Genet. 2003, 73:198-204.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 198-204
-
-
Rahman, N.1
Dunstan, M.2
Teare, M.D.3
Hanks, S.4
Douglas, J.5
Coleman, K.6
Bottomly, W.E.7
Campbell, M.E.8
Berglund, B.9
Nordenskjöld, M.10
-
62
-
-
0000460112
-
Status dysvascularis, ein fall von besonder zerreisslichkeit der blutgefasse
-
Sack G. Status dysvascularis, ein fall von besonder zerreisslichkeit der blutgefasse. Dtsch. Arch. Klin. Med. 1936, 178:663-669.
-
(1936)
Dtsch. Arch. Klin. Med.
, vol.178
, pp. 663-669
-
-
Sack, G.1
-
63
-
-
0035909658
-
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
-
Schalkwijk J., Zweers M.C., Steijlen P.M., Dean W.B., Taylor G., van Vlijmen I.M., van Haren B., Miller W.L., Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N. Engl. J. Med. 2001, 345:1167-1175.
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 1167-1175
-
-
Schalkwijk, J.1
Zweers, M.C.2
Steijlen, P.M.3
Dean, W.B.4
Taylor, G.5
van Vlijmen, I.M.6
van Haren, B.7
Miller, W.L.8
Bristow, J.9
-
64
-
-
0033910981
-
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II)
-
Schwarze U., Atkinson M., Hoffman G.G., Greenspan D.S., Byers P.H. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am. J. Hum. Genet. 2000, 66:1757-1765.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1757-1765
-
-
Schwarze, U.1
Atkinson, M.2
Hoffman, G.G.3
Greenspan, D.S.4
Byers, P.H.5
-
65
-
-
2342638980
-
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
-
Schwarze U., Hata R., McKusick V.A., Shinkai H., Hoyme H.E., Pyeritz R.E., Byers P.H. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am. J. Hum. Genet. 2004, 74:917-930.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 917-930
-
-
Schwarze, U.1
Hata, R.2
McKusick, V.A.3
Shinkai, H.4
Hoyme, H.E.5
Pyeritz, R.E.6
Byers, P.H.7
-
66
-
-
84871243967
-
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
-
Schwarze U., Cundy T., Pyott S.M., Christiansen H.E., Hegde M.R., Bank R.A., Pals G., Ankala A., Conneely K., Seaver L., et al. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum. Mol. Genet. 2013, 22:1-17.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 1-17
-
-
Schwarze, U.1
Cundy, T.2
Pyott, S.M.3
Christiansen, H.E.4
Hegde, M.R.5
Bank, R.A.6
Pals, G.7
Ankala, A.8
Conneely, K.9
Seaver, L.10
-
67
-
-
33745616078
-
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)
-
Seidler D.G., Faiyaz-Ul-Haque M., Hansen U., Yip G.W., Zaidi S.H., Teebi A.S., Kiesel L., Götte M. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). J. Mol. Med. 2006, 84:583-594.
-
(2006)
J. Mol. Med.
, vol.84
, pp. 583-594
-
-
Seidler, D.G.1
Faiyaz-Ul-Haque, M.2
Hansen, U.3
Yip, G.W.4
Zaidi, S.H.5
Teebi, A.S.6
Kiesel, L.7
Götte, M.8
-
68
-
-
0026742497
-
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen
-
Smith L.T., Wertelecki W., Milstone L.M., Petty E.M., Seashore M.R., Braverman I.M., Jenkins T.G., Byers P.H. 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, 51:235-244.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 235-244
-
-
Smith, L.T.1
Wertelecki, W.2
Milstone, L.M.3
Petty, E.M.4
Seashore, M.R.5
Braverman, I.M.6
Jenkins, T.G.7
Byers, P.H.8
-
69
-
-
0026410280
-
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family
-
Sokolov B.P., Prytkov A.N., Tromp G., Knowlton R.G., Prockop D.J. Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. Hum. Genet. 1991, 88:125-129.
-
(1991)
Hum. Genet.
, vol.88
, pp. 125-129
-
-
Sokolov, B.P.1
Prytkov, A.N.2
Tromp, G.3
Knowlton, R.G.4
Prockop, D.J.5
-
70
-
-
0016773654
-
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin
-
Steinmann B., Gitzelmann R., Vogel A., Grant M.E., Harwood R., Sear C.H. Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. Helv. Paediatr. Acta 1975, 30:255-274.
-
(1975)
Helv. Paediatr. Acta
, vol.30
, pp. 255-274
-
-
Steinmann, B.1
Gitzelmann, R.2
Vogel, A.3
Grant, M.E.4
Harwood, R.5
Sear, C.H.6
-
71
-
-
0019122764
-
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII
-
Steinmann B., Tuderman L., Peltonen L., Martin G.R., McKusick V.A., Prockop D.J. Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J. Biol. Chem. 1980, 255:8887-8893.
-
(1980)
J. Biol. Chem.
, vol.255
, pp. 8887-8893
-
-
Steinmann, B.1
Tuderman, L.2
Peltonen, L.3
Martin, G.R.4
McKusick, V.A.5
Prockop, D.J.6
-
72
-
-
84866269985
-
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
-
Symoens S., Syx D., Malfait F., Callewaert B., De Backer J., Vanakker O., Coucke P., De Paepe A. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum. Mutat. 2012, 33:1485-1493.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1485-1493
-
-
Symoens, S.1
Syx, D.2
Malfait, F.3
Callewaert, B.4
De Backer, J.5
Vanakker, O.6
Coucke, P.7
De Paepe, A.8
-
73
-
-
0029946543
-
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito
-
Toriello H.V., Glover T.W., Takahara K., Byers P.H., Miller D.E., Higgins J.V., Greenspan D.S. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat. Genet. 1996, 13:361-365.
-
(1996)
Nat. Genet.
, vol.13
, pp. 361-365
-
-
Toriello, H.V.1
Glover, T.W.2
Takahara, K.3
Byers, P.H.4
Miller, D.E.5
Higgins, J.V.6
Greenspan, D.S.7
-
75
-
-
0022920787
-
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen
-
Tsipouras P., Byers P.H., Schwartz R.C., Chu M.L., Weil D., Pepe G., Cassidy S.B., Ramirez F. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum. Genet. 1986, 74:41-46.
-
(1986)
Hum. Genet.
, vol.74
, pp. 41-46
-
-
Tsipouras, P.1
Byers, P.H.2
Schwartz, R.C.3
Chu, M.L.4
Weil, D.5
Pepe, G.6
Cassidy, S.B.7
Ramirez, F.8
-
77
-
-
0018417480
-
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome
-
Vogel A., Holbrook K.A., Steinmann B., Gitzelmann R., Byers P.H. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab. Invest. 1979, 40:201-206.
-
(1979)
Lab. Invest.
, vol.40
, pp. 201-206
-
-
Vogel, A.1
Holbrook, K.A.2
Steinmann, B.3
Gitzelmann, R.4
Byers, P.H.5
-
78
-
-
56449090709
-
Ehlers-Danlos syndrome
-
Weber F.P. Ehlers-Danlos syndrome. Proc. R. Soc. Med. 1936, 30:30-31.
-
(1936)
Proc. R. Soc. Med.
, vol.30
, pp. 30-31
-
-
Weber, F.P.1
-
79
-
-
0001195966
-
Ehlers-Danlos syndrome. Pathologic, histochemical and electron microscopic observations
-
Wechsler H.L., Fisher E.R. Ehlers-Danlos syndrome. Pathologic, histochemical and electron microscopic observations. Arch. Pathol. 1964, 77:613-619.
-
(1964)
Arch. Pathol.
, vol.77
, pp. 613-619
-
-
Wechsler, H.L.1
Fisher, E.R.2
-
80
-
-
0029806968
-
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)
-
Wenstrup R.J., Langland G.T., Willing M.C., D'Souza V.N., Cole W.G. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum. Mol. Genet. 1996, 5:1733-1736.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1733-1736
-
-
Wenstrup, R.J.1
Langland, G.T.2
Willing, M.C.3
D'Souza, V.N.4
Cole, W.G.5
-
81
-
-
0033924872
-
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
-
Wenstrup R.J., Florer J.B., Willing M.C., Giunta C., Steinmann B., Young F., Susic M., Cole W.G. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am. J. Hum. Genet. 2000, 66:1766-1776.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1766-1776
-
-
Wenstrup, R.J.1
Florer, J.B.2
Willing, M.C.3
Giunta, C.4
Steinmann, B.5
Young, F.6
Susic, M.7
Cole, W.G.8
-
82
-
-
11144228263
-
Type V collagen controls the initiation of collagen fibril assembly
-
Wenstrup R.J., Florer J.B., Brunskill E.W., Bell S.M., Chervoneva I., Birk D.E. Type V collagen controls the initiation of collagen fibril assembly. J. Biol. Chem. 2004, 279:53331-53337.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 53331-53337
-
-
Wenstrup, R.J.1
Florer, J.B.2
Brunskill, E.W.3
Bell, S.M.4
Chervoneva, I.5
Birk, D.E.6
-
83
-
-
0001195966
-
Ehlers-Danlos syndrome. Pathologic, histochemical and electron microscopic observations
-
Weschsler H.L., Fisher E.R. Ehlers-Danlos syndrome. Pathologic, histochemical and electron microscopic observations. Arch. Pathol. 1964, 77:613-619.
-
(1964)
Arch. Pathol.
, vol.77
, pp. 613-619
-
-
Weschsler, H.L.1
Fisher, E.R.2
-
84
-
-
0018288887
-
Inhibiting effect of procollagen peptides on collagen biosynthesis in fibroblast cultures
-
Wiestner M., Krieg T., Hörlein D., Glanville R.W., Fietzek P., Müller P.K. Inhibiting effect of procollagen peptides on collagen biosynthesis in fibroblast cultures. J. Biol. Chem. 1979, 254:7016-7023.
-
(1979)
J. Biol. Chem.
, vol.254
, pp. 7016-7023
-
-
Wiestner, M.1
Krieg, T.2
Hörlein, D.3
Glanville, R.W.4
Fietzek, P.5
Müller, P.K.6
-
85
-
-
0025736316
-
Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome
-
Wordsworth B.P., Ogilvie D.J., Sykes B.C. Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome. Br. J. Rheumatol. 1991, 30:173-177.
-
(1991)
Br. J. Rheumatol.
, vol.30
, pp. 173-177
-
-
Wordsworth, B.P.1
Ogilvie, D.J.2
Sykes, B.C.3
-
86
-
-
0038051439
-
Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome
-
Zweers M.C., Bristow J., Steijlen P.M., Dean W.B., Hamel B.C., Otero M., Kucharekova M., Boezeman J.B., Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am. J. Hum. Genet. 2003, 73:214-217.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 214-217
-
-
Zweers, M.C.1
Bristow, J.2
Steijlen, P.M.3
Dean, W.B.4
Hamel, B.C.5
Otero, M.6
Kucharekova, M.7
Boezeman, J.B.8
Schalkwijk, J.9
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