Zabel B - Search Results

1

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.

Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B. Dittrich B, et al. Among authors: zabel b. Nat Genet. 1996 Oct;14(2):163-70. doi: 10.1038/ng1096-163. Nat Genet. 1996. PMID: 8841186

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

One gene, two transcripts: isolation of an alternative transcript encoding for the autoantigen La/SS-B from a cDNA library of a patient with primary Sjögrens' syndrome.

Tröster H, Metzger TE, Semsei I, Schwemmle M, Winterpacht A, Zabel B, Bachmann M. Tröster H, et al. Among authors: zabel b. J Exp Med. 1994 Dec 1;180(6):2059-67. doi: 10.1084/jem.180.6.2059. J Exp Med. 1994. PMID: 7964483 Free PMC article.

4

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

5

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ. Momeni P, et al. Among authors: zabel b. Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717. Nat Genet. 2000. PMID: 10615131

6

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Buiting K, Greger V, Brownstein BH, Mohr RM, Voiculescu I, Winterpacht A, Zabel B, Horsthemke B. Buiting K, et al. Among authors: zabel b. Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5457-61. doi: 10.1073/pnas.89.12.5457. Proc Natl Acad Sci U S A. 1992. PMID: 1608955 Free PMC article.

7

No evidence for sequences structurally related to the RB1 gene in the human genome.

Belka C, Greger V, Zabel B, Horsthemke B. Belka C, et al. Among authors: zabel b. Hum Genet. 1991 Feb;86(4):401-3. doi: 10.1007/BF00201844. Hum Genet. 1991. PMID: 1999343

8

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

9

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.

10

Assignment of the human diacylglycerol kinase 4 (DAGK4) gene to chromosome 4p16.3.

Endele S, Zabel B, Winterpacht A. Endele S, et al. Among authors: zabel b. Genomics. 1996 Apr 1;33(1):145-6. doi: 10.1006/geno.1996.0174. Genomics. 1996. PMID: 8617502 No abstract available.

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