Steinmann B - Search Results

1

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.

Raghunath M, Mackay K, Dalgleish R, Steinmann B. Raghunath M, et al. Among authors: steinmann b. Eur J Pediatr. 1995 Feb;154(2):123-9. doi: 10.1007/BF01991915. Eur J Pediatr. 1995. PMID: 7720740

2

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

3

Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.

Raghunath M, Steinmann B, Delozier-Blanchet C, Extermann P, Superti-Furga A. Raghunath M, et al. Among authors: steinmann b. Pediatr Res. 1994 Oct;36(4):441-8. doi: 10.1203/00006450-199410000-00005. Pediatr Res. 1994. PMID: 7816518 Clinical Trial.

4

Rose NJ, Mackay K, De Paepe A, Steinmann B, Punnett HH, Dalgleish R. Rose NJ, et al. Among authors: steinmann b. Hum Genet. 1994 Nov;94(5):497-503. doi: 10.1007/BF00211014. Hum Genet. 1994. PMID: 7959683

5

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

Mackay K, Lund AM, Raghunath M, Steinmann B, Dalgleish R. Mackay K, et al. Among authors: steinmann b. Hum Genet. 1993 Jun;91(5):439-44. doi: 10.1007/BF00217768. Hum Genet. 1993. PMID: 8100209

6

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

7

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

Lund AM, Schwartz M, Raghunath M, Steinmann B, Skovby F. Lund AM, et al. Among authors: steinmann b. Eur J Hum Genet. 1996;4(1):39-45. doi: 10.1159/000472168. Eur J Hum Genet. 1996. PMID: 8800927

8

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

9

Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.

Raghunath M, Kielty CM, Steinmann B. Raghunath M, et al. Among authors: steinmann b. J Mol Biol. 1995 May 19;248(5):901-9. doi: 10.1006/jmbi.1995.0270. J Mol Biol. 1995. PMID: 7760331

10

Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa.

König A, Raghunath M, Steinmann B, Bruckner-Tuderman L. König A, et al. Among authors: steinmann b. J Invest Dermatol. 1994 Jan;102(1):105-10. doi: 10.1111/1523-1747.ep12371741. J Invest Dermatol. 1994. PMID: 8288900 Free article.

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