Steinmann B - Search Results

1

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.

Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Mutat. 2000 Aug;16(2):176-7. doi: 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10923041

2

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.

Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B. Giunta C, et al. Among authors: steinmann b. Am J Hum Genet. 2008 Jun;82(6):1290-305. doi: 10.1016/j.ajhg.2008.05.001. Am J Hum Genet. 2008. PMID: 18513683 Free PMC article.

3

Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.

Giunta C, Bürer-Chambaz C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Genet. 2009 Apr;125(3):346. Hum Genet. 2009. PMID: 19320026 No abstract available.

4

Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.

Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Hum Genet. 2008 Jun;123(5):540. Hum Genet. 2008. PMID: 20960610 No abstract available.

5

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

Mátyás G, Giunta C, Steinmann B, Hossle JP, Hellwig R. Mátyás G, et al. Among authors: steinmann b. Hum Mutat. 2002 Jan;19(1):58-68. doi: 10.1002/humu.10013. Hum Mutat. 2002. PMID: 11754104

6

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

Giunta C, Randolph A, Steinmann B. Giunta C, et al. Among authors: steinmann b. Mol Genet Metab. 2005 Sep-Oct;86(1-2):269-76. doi: 10.1016/j.ymgme.2005.04.014. Epub 2005 Jun 24. Mol Genet Metab. 2005. PMID: 15979919

7

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.

8

Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

Giunta C, Steinmann B. Giunta C, et al. Among authors: steinmann b. Am J Med Genet. 2000 Jan 3;90(1):72-9. doi: 10.1002/(sici)1096-8628(20000103)90:1<72::aid-ajmg13>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10602121

9

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Giunta C, et al. Among authors: steinmann b. Am J Med Genet. 2002 May 15;109(4):284-90. doi: 10.1002/ajmg.10373. Am J Med Genet. 2002. PMID: 11992482

10

Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases.

Kraenzlin ME, Kraenzlin CA, Meier C, Giunta C, Steinmann B. Kraenzlin ME, et al. Among authors: steinmann b. Clin Chem. 2008 Sep;54(9):1546-53. doi: 10.1373/clinchem.2008.105262. Epub 2008 Jul 24. Clin Chem. 2008. PMID: 18653826 Free article.

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