Schwarze U - Search Results

1

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.

Winterpacht A, Hilbert K, Schwarze U, Zabel B. Winterpacht A, et al. Among authors: schwarze u. Hum Genet. 1995 Apr;95(4):437-9. doi: 10.1007/BF00208971. Hum Genet. 1995. PMID: 7705841

2

[Clinical importance of hepatitis B virus DNA detection in serum of children with chronic hepatitis B].

Wirth S, Möllers U, Schaefer E, Schwarze U, Zabel B. Wirth S, et al. Among authors: schwarze u. Klin Padiatr. 1992 May-Jun;204(3):155-7. doi: 10.1055/s-2007-1025342. Klin Padiatr. 1992. PMID: 1614181 German.

3

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.

Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B. Winterpacht A, et al. Among authors: schwarze u. Hum Mol Genet. 1994 Oct;3(10):1891-3. doi: 10.1093/hmg/3.10.1891. Hum Mol Genet. 1994. PMID: 7849719 No abstract available.

4

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B. Winterpacht A, et al. Among authors: schwarze u. Hum Mutat. 1994;4(4):257-62. doi: 10.1002/humu.1380040405. Hum Mutat. 1994. PMID: 7866404

5

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU. Winterpacht A, et al. Among authors: schwarze u. Nat Genet. 1993 Apr;3(4):323-6. doi: 10.1038/ng0493-323. Nat Genet. 1993. PMID: 7981752

6

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B. Winterpacht A, et al. Among authors: schwarze u. J Med Genet. 1996 Aug;33(8):649-54. doi: 10.1136/jmg.33.8.649. J Med Genet. 1996. PMID: 8863156 Free PMC article.

7

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Schwarze U, et al. Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27. Am J Hum Genet. 2001. PMID: 11577371 Free PMC article.

8

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

Schwarze U, Goldstein JA, Byers PH. Schwarze U, et al. Am J Hum Genet. 1997 Dec;61(6):1276-86. doi: 10.1086/301641. Am J Hum Genet. 1997. PMID: 9399899 Free PMC article.

9

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.

Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH. Gilchrist D, et al. Among authors: schwarze u. Am J Med Genet. 1999 Feb 12;82(4):305-11. Am J Med Genet. 1999. PMID: 10051163

10

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Colige A, et al. Among authors: schwarze u. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504. Am J Hum Genet. 1999. PMID: 10417273 Free PMC article.

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