Steinbach P - Search Results

1

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

2

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

3

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad.

Bächner D, Manca A, Steinbach P, Wöhrle D, Just W, Vogel W, Hameister H, Poustka A. Bächner D, et al. Among authors: steinbach p. Hum Mol Genet. 1993 Dec;2(12):2043-50. doi: 10.1093/hmg/2.12.2043. Hum Mol Genet. 1993. PMID: 8111372

4

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

Wöhrle D, Hennig I, Vogel W, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Nat Genet. 1993 Jun;4(2):140-2. doi: 10.1038/ng0693-140. Nat Genet. 1993. PMID: 8348151

5

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.

6

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.

Steinbach P, Gläser D, Vogel W, Wolf M, Schwemmle S. Steinbach P, et al. Am J Hum Genet. 1998 Feb;62(2):278-85. doi: 10.1086/301711. Am J Hum Genet. 1998. PMID: 9463318 Free PMC article.

7

Genotype mosaicism in fragile X fetal tissues.

Wöhrle D, Hirst MC, Kennerknecht I, Davies KE, Steinbach P. Wöhrle D, et al. Among authors: steinbach p. Hum Genet. 1992 Apr;89(1):114-6. doi: 10.1007/BF00207057. Hum Genet. 1992. PMID: 1349561

8

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

9

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

10

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.

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