Steinmann B - Search Results

1

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Among authors: steinmann b. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.

2

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Superti-Furga A, Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Among authors: steinmann b. Ann N Y Acad Sci. 1996 Jun 8;785:195-201. doi: 10.1111/j.1749-6632.1996.tb56259.x. Ann N Y Acad Sci. 1996. PMID: 8702127 Review. No abstract available.

3

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.

4

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

Rossi A, van der Harten HJ, Beemer FA, Kleijer WJ, Gitzelmann R, Steinmann B, Superti-Furga A. Rossi A, et al. Among authors: steinmann b. Hum Genet. 1996 Dec;98(6):657-61. doi: 10.1007/s004390050279. Hum Genet. 1996. PMID: 8931695

5

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. Eur J Pediatr. 1995 Mar;154(3):215-9. doi: 10.1007/BF01954274. Eur J Pediatr. 1995. PMID: 7758520

6

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.

7

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

Superti-Furga A, Steinmann B, Duc G, Gitzelmann R. Superti-Furga A, et al. Among authors: steinmann b. Eur J Pediatr. 1991 May;150(7):493-7. doi: 10.1007/BF01958431. Eur J Pediatr. 1991. PMID: 1915502

8

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.

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

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.

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