Mautner VF - Search Results

1

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.

Kehrer-Sawatzki H, Wahlländer U, Cooper DN, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: mautner vf. Genes (Basel). 2021 Oct 19;12(10):1639. doi: 10.3390/genes12101639. Genes (Basel). 2021. PMID: 34681033 Free PMC article. Review.

2

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. Among authors: mautner vf. Hum Genet. 2005 May;116(6):466-75. doi: 10.1007/s00439-005-1265-4. Epub 2005 Mar 18. Hum Genet. 2005. PMID: 15776250

3

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. Among authors: mautner vf. 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

4

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. Among authors: mautner vf. 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.

5

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. Among authors: mautner vf. Hum Mutat. 2010 Mar;31(3):325-34. doi: 10.1002/humu.21191. Hum Mutat. 2010. PMID: 20052761

6

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. Among authors: mautner vf. Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254. Hum Mutat. 2010. PMID: 20506354

7

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. Among authors: mautner vf. Hum Mutat. 2010 Oct;31(10):1163-73. doi: 10.1002/humu.21340. Hum Mutat. 2010. PMID: 20725927

8

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. Among authors: mautner vf. Hum Mutat. 2011 Jun;32(6):E2134-47. doi: 10.1002/humu.21476. Hum Mutat. 2011. PMID: 21618341

9

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H. Zickler AM, et al. Among authors: mautner vf. Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9. Hum Mutat. 2012. PMID: 22045503

10

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.

Vogt J, Nguyen R, Kluwe L, Schuhmann M, Roehl AC, Mußotter T, Cooper DN, Mautner VF, Kehrer-Sawatzki H. Vogt J, et al. Among authors: mautner vf. J Med Case Rep. 2011 Dec 12;5:577. doi: 10.1186/1752-1947-5-577. J Med Case Rep. 2011. PMID: 22151963 Free PMC article.

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