Steinmann B - Search Results

1

Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Vissing H, D'Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, Superti-Furga A. Vissing H, et al. Among authors: steinmann b. J Biol Chem. 1991 Mar 15;266(8):5244-8. J Biol Chem. 1991. PMID: 2002056 Free article.

2

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

Lee B, D'Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A. Lee B, et al. Among authors: steinmann b. Am J Hum Genet. 1991 Mar;48(3):511-7. Am J Hum Genet. 1991. PMID: 1998337 Free PMC article.

3

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F. Weil D, et al. Among authors: steinmann b. J Biol Chem. 1988 Jun 25;263(18):8561-4. J Biol Chem. 1988. PMID: 2454224 Free article.

Recent biochemical studies have shown that the fibroblasts from a patient with Ehlers-Danlos Syndrome Type VIIB produce nearly equal amounts of normal and shortened pro-alpha 2(I) collagen chains (Wirtz, M.K., Glanville, R. W., Steinmann, B., Rao, V. H., and Hollist …

Recent biochemical studies have shown that the fibroblasts from a patient with Ehlers-Danlos Syndrome Type VIIB produce nearly equal amounts …

4

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

5

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

Weil D, D'Alessio M, Ramirez F, Steinmann B, Wirtz MK, Glanville RW, Hollister DW. Weil D, et al. Among authors: steinmann b. J Biol Chem. 1989 Oct 5;264(28):16804-9. J Biol Chem. 1989. PMID: 2777808 Free article.

6

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.

7

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, Steinmann B, Ramirez F. Lee B, et al. Among authors: steinmann b. J Biol Chem. 1991 Mar 15;266(8):5256-9. J Biol Chem. 1991. PMID: 1672129 Free 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

Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder?

Superti-Furga A, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. J Am Acad Dermatol. 1989 Aug;21(2 Pt 1):323. doi: 10.1016/s0190-9622(89)70192-4. J Am Acad Dermatol. 1989. PMID: 2768588 No abstract available.

10

Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.

Steinmann B, Superti-Furga A, Joller-Jemelka HI, Cetta G, Byers PH. Steinmann B, et al. Am J Med Genet. 1989 Sep;34(1):68-71. doi: 10.1002/ajmg.1320340113. Am J Med Genet. 1989. PMID: 2816989

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