Authors:
Pace, JM
Atkinson, M
Willing, MC
Wallis, G
Byers, PH
Citation: Jm. Pace et al., Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta, HUM MUTAT, 18(4), 2001, pp. 319-326
Authors:
Lindquist, S
Baum, J
Kelly, JW
Byers, PH
Seckler, R
Helenius, A
Citation: S. Lindquist et al., Nuclear magnetic resonance characterization of peptide models of collagen-folding diseases - Discussion, PHI T ROY B, 356(1406), 2001, pp. 168-168
Authors:
Pace, JM
Kuslich, CD
Willing, MC
Byers, PH
Citation: Jm. Pace et al., Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta, J MED GENET, 38(7), 2001, pp. 443-449
Authors:
Schwarze, U
Schievink, WI
Petty, E
Jaff, MR
Babovic-Vuksanovic, D
Cherry, KJ
Pepin, M
Byers, PH
Citation: U. Schwarze et al., Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV, AM J HU GEN, 69(5), 2001, pp. 989-1001
Authors:
Raff, ML
Craigen, WJ
Smith, LT
Keene, DR
Byers, PH
Citation: Ml. Raff et al., Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII, HUM GENET, 106(1), 2000, pp. 19-28
Authors:
Pepin, M
Schwarze, U
Superti-Furga, A
Byers, PH
Citation: M. Pepin et al., Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type., N ENG J MED, 342(10), 2000, pp. 673-680
Authors:
Schwarze, U
Atkinson, M
Hoffman, GG
Greenspan, DS
Byers, PH
Citation: U. Schwarze et al., 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 HU GEN, 66(6), 2000, pp. 1757-1765
Authors:
Collins, MH
Schwarze, U
Carpentieri, DF
Kaplan, P
Nathanson, K
Meyer, JS
Byers, PH
Citation: Mh. Collins et al., Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV, PEDIATR D P, 2(1), 1999, pp. 86-93
Authors:
Gilchrist, D
Schwarze, U
Shields, K
MacLaren, L
Bridge, PJ
Byers, PH
Citation: D. Gilchrist et al., Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives, AM J MED G, 82(4), 1999, pp. 305-311
Authors:
Colige, A
Sieron, AL
Li, SW
Schwarze, U
Petty, E
Wertelecki, W
Wilcox, W
Krakow, D
Cohn, DH
Reardon, W
Byers, PH
Lapiere, CM
Prockop, DJ
Nusgens, BV
Citation: A. Colige et al., Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene, AM J HU GEN, 65(2), 1999, pp. 308-317
Citation: U. Schwarze et al., Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: Influence of intron splice order on outcome of splice-site mutation, AM J HU GEN, 65(2), 1999, pp. 336-344