Steinmann B - Search Results

1

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Superti-Furga A, et al. Among authors: steinmann b. Am J Med Genet. 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9674906

2

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.

Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Giedion A, et al. Among authors: steinmann b. Eur J Pediatr. 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. Eur J Pediatr. 1997. PMID: 9083764

3

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. Superti-Furga A, et al. Among authors: steinmann b. J Med Genet. 1999 Aug;36(8):621-4. J Med Genet. 1999. PMID: 10465113 Free PMC article.

4

Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?

Eich GF, Steinmann B, Hodler J, Exner GU, Giedion A. Eich GF, et al. Among authors: steinmann b. Am J Med Genet. 1996 May 3;63(1):62-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<62::AID-AJMG13>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8723088

5

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.

6

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.

Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. Superti-Furga A, et al. Among authors: steinmann b. Am J Med Genet. 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723100 Review.

7

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A. Stucki U, et al. Among authors: steinmann b. Am J Med Genet. 2001 Apr 22;100(2):122-9. doi: 10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11298373

8

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

9

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

10

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

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