Nürnberg P - Search Results

1

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

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

3

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Hoffmeyer S, Nürnberg P, Ritter H, Fahsold R, Leistner W, Kaufmann D, Krone W. Hoffmeyer S, et al. Among authors: nurnberg p. Am J Hum Genet. 1998 Feb;62(2):269-77. doi: 10.1086/301715. Am J Hum Genet. 1998. PMID: 9463322 Free PMC article.

4

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: nurnberg p. Hum Mol Genet. 1998 Aug;7(8):1261-8. doi: 10.1093/hmg/7.8.1261. Hum Mol Genet. 1998. PMID: 9668168

5

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: nurnberg p. 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

6

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: nurnberg p. 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.

7

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: nurnberg p. Electrophoresis. 1996 Oct;17(10):1559-63. doi: 10.1002/elps.1150171011. Electrophoresis. 1996. PMID: 8957181

8

New evidence for a mutation hotspot in exon 37 of the NF1 gene.

Böddrich A, Robinson PN, Schülke M, Buske A, Tinschert S, Nürnberg P. Böddrich A, et al. Among authors: nurnberg p. Hum Mutat. 1997;9(4):374-7. doi: 10.1002/(SICI)1098-1004(1997)9:4<374::AID-HUMU15>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9101303 No abstract available.

9

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

10

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: nurnberg p. 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

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