Steinbach P - Search Results

1

Does proximal myotonic myopathy show anticipation?

Kruse B, Wöhrle D, Steinbach P, Gal A. Kruse B, et al. Among authors: steinbach p. Hum Mutat. 2008 Aug;29(8):E100-2. doi: 10.1002/humu.20791. Hum Mutat. 2008. PMID: 18484632

2

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability.

Wöhrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Hum Mol Genet. 1995 Jul;4(7):1147-53. doi: 10.1093/hmg/4.7.1147. Hum Mol Genet. 1995. PMID: 8528201

3

Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?

Salat U, Bardoni B, Wöhrle D, Steinbach P. Salat U, et al. Among authors: steinbach p. J Med Genet. 2000 Nov;37(11):842-50. doi: 10.1136/jmg.37.11.842. J Med Genet. 2000. PMID: 11073538 Free PMC article.

4

Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation.

Wöhrle D, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Hum Genet. 1991 Aug;87(4):421-4. doi: 10.1007/BF00197160. Hum Genet. 1991. PMID: 1715307

5

Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Wöhrle D, Barbi G, Schulz W, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Hum Genet. 1990 Dec;86(2):215-8. doi: 10.1007/BF00197708. Hum Genet. 1990. PMID: 2265834

6

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.

Wöhrle D, Salat U, Hameister H, Vogel W, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Am J Hum Genet. 2001 Sep;69(3):504-15. doi: 10.1086/322739. Epub 2001 Jul 13. Am J Hum Genet. 2001. PMID: 11462172 Free PMC article.

7

Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue.

Wöhrle D, Fryns JP, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Hum Genet. 1990 Oct;85(6):659-65. doi: 10.1007/BF00193594. Hum Genet. 1990. PMID: 2227957

8

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D, et al. Steinbach P, et al. Hum Genet. 1993 Nov;92(5):491-8. doi: 10.1007/BF00216457. Hum Genet. 1993. PMID: 7902319

9

DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome.

Wöhrle D, Schwemmle S, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Am J Med Genet. 1996 Aug 9;64(2):266-7. doi: 10.1002/ajmg.1320640202. Am J Med Genet. 1996. PMID: 8844061 No abstract available.

10

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

Schwemmle S, de Graaff E, Deissler H, Gläser D, Wöhrle D, Kennerknecht I, Just W, Oostra BA, Döerfler W, Vogel W, Steinbach P. Schwemmle S, et al. Among authors: steinbach p. Am J Hum Genet. 1997 Jun;60(6):1354-62. doi: 10.1086/515456. Am J Hum Genet. 1997. PMID: 9199556 Free PMC article.

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