Zabel B - 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: zabel b. Hum Genet. 1995 Apr;95(4):437-9. doi: 10.1007/BF00208971. Hum Genet. 1995. PMID: 7705841

2

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: zabel bu. Nat Genet. 1993 Apr;3(4):323-6. doi: 10.1038/ng0493-323. Nat Genet. 1993. PMID: 7981752

3

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B. Spranger J, et al. Among authors: zabel b. Pediatr Radiol. 1994;24(6):431-5. doi: 10.1007/BF02011911. Pediatr Radiol. 1994. PMID: 7700721

4

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: zabel b. 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.

5

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: zabel b. Hum Mutat. 1994;4(4):257-62. doi: 10.1002/humu.1380040405. Hum Mutat. 1994. PMID: 7866404

6

New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.

Pohlenz J, Schönberger W, Wemme H, Winterpacht A, Wirth S, Zabel B. Pohlenz J, et al. Among authors: zabel b. Hum Mutat. 1996;7(1):79-81. doi: 10.1002/(SICI)1098-1004(1996)7:1<79::AID-HUMU15>3.0.CO;2-P. Hum Mutat. 1996. PMID: 8664910

7

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097

8

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: zabel b. 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.

9

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.

Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Among authors: zabel b. Am J Med Genet. 1997 Mar 3;69(1):79-84. doi: 10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9066888

10

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis.

Wüchner C, Hilbert K, Zabel B, Winterpacht A. Wüchner C, et al. Among authors: zabel b. Hum Genet. 1997 Aug;100(2):215-9. doi: 10.1007/s004390050493. Hum Genet. 1997. PMID: 9254852

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