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Results: 1-21 |
Results: 21
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
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
Folding defects in fibrillar collagens
Authors: Byers, PH
Citation: Ph. Byers, Folding defects in fibrillar collagens, PHI T ROY B, 356(1406), 2001, pp. 151-157
Folding defects in fibrillar collagens - Discussion
Authors: Kelly, JW Byers, PH Helenius, A Swoboda, BEP
Citation: Jw. Kelly et al., Folding defects in fibrillar collagens - Discussion, PHI T ROY B, 356(1406), 2001, pp. 157-158
Nuclear magnetic resonance characterization of peptide models of collagen-folding diseases - Discussion
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
Osteogenesis imperfecta: Mode of delivery and neonatal outcome
Authors: Cubert, R Cheng, EY Mack, S Pepin, MG Byers, PH
Citation: R. Cubert et al., Osteogenesis imperfecta: Mode of delivery and neonatal outcome, OBSTET GYN, 97(1), 2001, pp. 66-69
An exception to the rule.
Authors: Byers, PH
Citation: Ph. Byers, An exception to the rule., N ENG J MED, 345(16), 2001, pp. 1203-1205
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
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
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
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
Osteogenesis imperfecta: perspectives and opportunities
Authors: Byers, PH
Citation: Ph. Byers, Osteogenesis imperfecta: perspectives and opportunities, CURR OP PED, 12(6), 2000, pp. 603-609
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII
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
Ehlers-Danlos syndrome type IV. Reply
Authors: Byers, PH Schwarze, U Pepin, M
Citation: Ph. Byers et al., Ehlers-Danlos syndrome type IV. Reply, N ENG J MED, 343(5), 2000, pp. 368-368
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
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
Collagens: building blocks at the end of the development line
Authors: Byers, PH
Citation: Ph. Byers, Collagens: building blocks at the end of the development line, CLIN GENET, 58(4), 2000, pp. 270-279
Another look back - Reply
Authors: Byers, PH
Citation: Ph. Byers, Another look back - Reply, AM J HU GEN, 67(2), 2000, pp. 527-528
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)
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
Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV
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
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
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
Molecular genetic pathology - Coming of age in the molecular world
Authors: Byers, PH
Citation: Ph. Byers, Molecular genetic pathology - Coming of age in the molecular world, AM J PATH, 155(3), 1999, pp. 673-674
A look back
Authors: Byers, PH
Citation: Ph. Byers, A look back, AM J HU GEN, 65(6), 1999, pp. 1487-1488
Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene
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
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
Authors: Schwarze, U Starman, BJ Byers, PH
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
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