Steinmann B - Search Results

1

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.

Superti-Furga A, Raghunath M, Pistone FM, Romano C, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. Connect Tissue Res. 1993;29(1):31-40. doi: 10.3109/03008209309061964. Connect Tissue Res. 1993. PMID: 8339544

2

Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

Superti-Furga A, Pistone F, Romano C, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. J Med Genet. 1989 Jun;26(6):358-62. doi: 10.1136/jmg.26.6.358. J Med Genet. 1989. PMID: 2567784 Free PMC article.

3

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. J Biol Chem. 1988 May 5;263(13):6226-32. J Biol Chem. 1988. PMID: 2834369 Free article.

4

Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.

Superti-Furga A, Royce PM, Pistone FM, Romano C, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. Ann N Y Acad Sci. 1988;543:85-92. doi: 10.1111/j.1749-6632.1988.tb55319.x. Ann N Y Acad Sci. 1988. PMID: 3214056 No abstract available.

5

Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

Raghunath M, Bruckner P, Steinmann B. Raghunath M, et al. Among authors: steinmann b. J Mol Biol. 1994 Feb 25;236(3):940-9. doi: 10.1006/jmbi.1994.1199. J Mol Biol. 1994. PMID: 8114103

6

Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth.

Luder HU, van Waes H, Raghunath M, Steinmann B. Luder HU, et al. Among authors: steinmann b. J Craniofac Genet Dev Biol. 1996 Jul-Sep;16(3):156-63. J Craniofac Genet Dev Biol. 1996. PMID: 8872706

7

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.

Steinmann B, Westerhausen A, Constantinou CD, Superti-Furga A, Prockop DJ. Steinmann B, et al. Biochem J. 1991 Nov 1;279 ( Pt 3)(Pt 3):747-52. doi: 10.1042/bj2790747. Biochem J. 1991. PMID: 1953667 Free PMC article.

8

Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

Steinmann B, Bruckner P, Superti-Furga A. Steinmann B, et al. J Biol Chem. 1991 Jan 15;266(2):1299-303. J Biol Chem. 1991. PMID: 1985948 Free article.

9

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

Superti-Furga A, Steinmann B, Ramirez F, Byers PH. Superti-Furga A, et al. Among authors: steinmann b. Hum Genet. 1989 May;82(2):104-8. doi: 10.1007/BF00284038. Hum Genet. 1989. PMID: 2722184

10

Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism.

Steinmann B, Superti-Furga A, Royce PM. Steinmann B, et al. Ann N Y Acad Sci. 1988;543:47-61. doi: 10.1111/j.1749-6632.1988.tb55315.x. Ann N Y Acad Sci. 1988. PMID: 3063164 Review. No abstract available.

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