Tinschert S - Search Results

1

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: tinschert s. Hum Genet. 1998 Mar;102(3):367-71. doi: 10.1007/s004390050706. Hum Genet. 1998. PMID: 9544853

2

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: tinschert s. Hum Genet. 1995 Jul;96(1):95-8. doi: 10.1007/BF00214193. Hum Genet. 1995. PMID: 7607663

3

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

Robinson PN, Buske A, Neumann R, Tinschert S, Nürnberg P. Robinson PN, et al. Among authors: tinschert s. Hum Mutat. 1996;7(1):85-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<85::AID-HUMU17>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8664912 No abstract available.

4

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

Horn D, Robinson PN, Böddrich A, Buske A, Tinschert S, Nürnberg P. Horn D, et al. Among authors: tinschert s. Electrophoresis. 1996 Oct;17(10):1559-63. doi: 10.1002/elps.1150171011. Electrophoresis. 1996. PMID: 8957181

5

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: tinschert s. Am J Med Genet. 1999 Mar 5;83(1):6-12. Am J Med Genet. 1999. PMID: 10076878

6

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. Among authors: tinschert s. 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

7

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).

Buske A, Gewies A, Lehmann R, Rüther K, Algermissen B, Nürnberg P, Tinschert S. Buske A, et al. Among authors: tinschert s. Am J Med Genet. 1999 Oct 8;86(4):328-30. doi: 10.1002/(sici)1096-8628(19991008)86:4<328::aid-ajmg6>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10494088

8

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: tinschert s. Am J Hum Genet. 2000 Mar;66(3):790-818. doi: 10.1086/302809. Am J Hum Genet. 2000. PMID: 10712197 Free PMC article.

9

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

Toliat MR, Erdogan F, Gewies A, Fahsold R, Buske A, Tinschert S, Nürnberg P. Toliat MR, et al. Among authors: tinschert s. Electrophoresis. 2000 Feb;21(3):541-4. doi: 10.1002/(SICI)1522-2683(20000201)21:3<541::AID-ELPS541>3.0.CO;2-L. Electrophoresis. 2000. PMID: 10726756

10

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.

Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G, Jenne DE. Tinschert S, et al. Eur J Hum Genet. 2000 Jun;8(6):455-9. doi: 10.1038/sj.ejhg.5200493. Eur J Hum Genet. 2000. PMID: 10878667

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