Kehrer-Sawatzki H - Search Results

1

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

Farschtschi S, Mautner VF, Pham M, Nguyen R, Kehrer-Sawatzki H, Hutter S, Friedrich RE, Schulz A, Morrison H, Jones DT, Bendszus M, Bäumer P. Farschtschi S, et al. Ann Neurol. 2016 Oct;80(4):625-8. doi: 10.1002/ana.24753. Epub 2016 Aug 13. Ann Neurol. 2016. PMID: 27472264

2

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.

Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF. Kluwe L, et al. Hum Mutat. 2004 Feb;23(2):111-116. doi: 10.1002/humu.10299. Hum Mutat. 2004. PMID: 14722914

3

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF. Kehrer-Sawatzki H, et al. Hum Genet. 2005 May;116(6):466-75. doi: 10.1007/s00439-005-1265-4. Epub 2005 Mar 18. Hum Genet. 2005. PMID: 15776250

4

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region.

Kehrer-Sawatzki H, Schmid E, Fünsterer C, Kluwe L, Mautner VF. Kehrer-Sawatzki H, et al. Am J Med Genet A. 2008 Mar 15;146A(6):691-9. doi: 10.1002/ajmg.a.32045. Am J Med Genet A. 2008. PMID: 18265407

5

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

Steinmann K, Kluwe L, Friedrich RE, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Steinmann K, et al. J Invest Dermatol. 2009 Mar;129(3):615-21. doi: 10.1038/jid.2008.274. Epub 2008 Sep 18. J Invest Dermatol. 2009. PMID: 18800150 Free article.

6

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Roehl AC, Cooper DN, Kluwe L, Helbrich A, Wimmer K, Högel J, Mautner VF, Kehrer-Sawatzki H. Roehl AC, et al. Hum Mutat. 2010 Mar;31(3):325-34. doi: 10.1002/humu.21191. Hum Mutat. 2010. PMID: 20052761

7

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H. Bengesser K, et al. Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254. Hum Mutat. 2010. PMID: 20506354

8

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.

Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H. Mautner VF, et al. J Med Genet. 2010 Sep;47(9):623-30. doi: 10.1136/jmg.2009.075937. Epub 2010 Jun 12. J Med Genet. 2010. PMID: 20543202

9

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Roehl AC, et al. Hum Mutat. 2010 Oct;31(10):1163-73. doi: 10.1002/humu.21340. Hum Mutat. 2010. PMID: 20725927

10

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

Vogt J, Kohlhase J, Morlot S, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Vogt J, et al. Hum Mutat. 2011 Jun;32(6):E2134-47. doi: 10.1002/humu.21476. Hum Mutat. 2011. PMID: 21618341

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