Peters H - Search Results

1

A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.

Peters H, Hess D, Fahsold R, Schülke M. Peters H, et al. Hum Mutat. 1999;13(4):337. doi: 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu12>3.0.co;2-f. Hum Mutat. 1999. PMID: 10220149

2

Two independent mutations in a family with neurofibromatosis type 1 (NF1).

Klose A, Peters H, Hoffmeyer S, Buske A, Lüder A, Hess D, Lehmann R, Nürnberg P, Tinschert S. Klose A, et al. Among authors: peters h. Am J Med Genet. 1999 Mar 5;83(1):6-12. Am J Med Genet. 1999. PMID: 10076878

3

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.

Peters H, Lüder A, Harder A, Schuelke M, Tinschert S. Peters H, et al. Hum Mutat. 1999;13(3):258. doi: 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1. Hum Mutat. 1999. PMID: 10090487

4

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P. Fahsold R, et al. Among authors: peters h. Am J Hum Genet. 2000 Mar;66(3):790-818. doi: 10.1086/302809. Am J Hum Genet. 2000. PMID: 10712197 Free PMC article.

5

Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.

Klose A, Robinson N, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H. Klose A, et al. Among authors: peters h. Hum Genet. 1998 Mar;102(3):367-71. doi: 10.1007/s004390050706. Hum Genet. 1998. PMID: 9544853

6

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Ott CE, et al. Among authors: peters h. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. Hum Mutat. 2010. PMID: 20648631

7

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

Robinson PN, Böddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nürnberg P. Robinson PN, et al. Among authors: peters h. Hum Genet. 1995 Jul;96(1):95-8. doi: 10.1007/BF00214193. Hum Genet. 1995. PMID: 7607663

8

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nürnberg P. Klose A, et al. Among authors: peters h. Hum Mol Genet. 1998 Aug;7(8):1261-8. doi: 10.1093/hmg/7.8.1261. Hum Mol Genet. 1998. PMID: 9668168

9

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.

Titze S, Peters H, Währisch S, Harder T, Guse K, Buske A, Tinschert S, Harder A. Titze S, et al. Among authors: peters h. Eur J Hum Genet. 2010 Jan;18(1):81-7. doi: 10.1038/ejhg.2009.129. Eur J Hum Genet. 2010. PMID: 19639020 Free PMC article.

10

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

Pietschmann A, Mehdipour P, Mehdipour P, Atri M, Hofmann W, Hosseini-Asl SS, Scherneck S, Mundlos S, Peters H. Pietschmann A, et al. Among authors: peters h. J Cancer Res Clin Oncol. 2005 Aug;131(8):552-8. doi: 10.1007/s00432-005-0678-8. Epub 2005 May 26. J Cancer Res Clin Oncol. 2005. PMID: 15918047

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