Kaufmann D - Search Results

1

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. Among authors: kaufmann d. Eur J Hum Genet. 2000 Jun;8(6):455-9. doi: 10.1038/sj.ejhg.5200493. Eur J Hum Genet. 2000. PMID: 10878667

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

3

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

4

Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.

Detjen AK, Tinschert S, Kaufmann D, Algermissen B, Nürnberg P, Schuelke M. Detjen AK, et al. Among authors: kaufmann d. Twin Res Hum Genet. 2007 Jun;10(3):486-95. doi: 10.1375/twin.10.3.486. Twin Res Hum Genet. 2007. PMID: 17564507

5

Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.

Harder A, Titze S, Herbst L, Harder T, Guse K, Tinschert S, Kaufmann D, Rosenbaum T, Mautner VF, Windt E, Wahlländer-Danek U, Wimmer K, Mundlos S, Peters H. Harder A, et al. Among authors: kaufmann d. Twin Res Hum Genet. 2010 Dec;13(6):582-94. doi: 10.1375/twin.13.6.582. Twin Res Hum Genet. 2010. PMID: 21142935

6

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

7

Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?

Kaufmann D, Tinschert S, Algermissen B. Kaufmann D, et al. Eur J Dermatol. 2001 Nov-Dec;11(6):521-6. Eur J Dermatol. 2001. PMID: 11701400

8

Segmental neurofibromatosis.

Schultz ES, Kaufmann D, Tinschert S, Schell H, von den Driesch P, Schuler G. Schultz ES, et al. Among authors: kaufmann d. Dermatology. 2002;204(4):296-7. doi: 10.1159/000063363. Dermatology. 2002. PMID: 12077526

9

A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.

Hoffmeyer S, Assum G, Kaufmann D, Schwenk K, Krone W. Hoffmeyer S, et al. Among authors: kaufmann d. Hum Genet. 1994 Jul;94(1):97-100. doi: 10.1007/BF02272852. Hum Genet. 1994. PMID: 8034304

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

399 results

Search Page