Steinmann B - Search Results

1

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

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

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.

4

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.

5

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

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

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule.

Superti-Furga A, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. Biochem Biophys Res Commun. 1988 Jan 15;150(1):140-7. doi: 10.1016/0006-291x(88)90497-4. Biochem Biophys Res Commun. 1988. PMID: 3337712

8

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.

Raghunath M, Superti-Furga A, Godfrey M, Steinmann B. Raghunath M, et al. Among authors: steinmann b. Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450. Hum Genet. 1993. PMID: 8428751

9

Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B. Giunta C, et al. Among authors: steinmann b. J Bone Joint Surg Am. 1999 Feb;81(2):225-38. doi: 10.2106/00004623-199902000-00010. J Bone Joint Surg Am. 1999. PMID: 10073586 Review.

10

Microangiopathy in Ehlers-Danlos syndrome type IV.

Superti-Furga A, Saesseli B, Steinmann B, Bollinger A. Superti-Furga A, et al. Among authors: steinmann b. Int J Microcirc Clin Exp. 1992 Aug;11(3):241-7. Int J Microcirc Clin Exp. 1992. PMID: 1506129

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