Wimmer K - Search Results

1

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

Roehl AC, Mussotter T, Cooper DN, Kluwe L, Wimmer K, Högel J, Zetzmann M, Vogt J, Mautner VF, Kehrer-Sawatzki H. Roehl AC, et al. Among authors: wimmer k. Hum Mutat. 2012 Mar;33(3):541-50. doi: 10.1002/humu.22013. Epub 2012 Jan 23. Hum Mutat. 2012. PMID: 22190464

2

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: wimmer k. Am J Hum Genet. 2004 Sep;75(3):410-23. doi: 10.1086/423624. Epub 2004 Jul 15. Am J Hum Genet. 2004. PMID: 15257518 Free PMC article.

3

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglböck H, Maertens O, Messiaen L. Wimmer K, et al. Genes Chromosomes Cancer. 2006 Mar;45(3):265-76. doi: 10.1002/gcc.20289. Genes Chromosomes Cancer. 2006. PMID: 16283621

4

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

Wimmer K, Decker M, Mayatepek E, Beiglböck H, Eggermann T, Kehrer-Sawatzki H, Fonatsch C, Rosenbaum T. Wimmer K, et al. Pediatr Res. 2005 Dec;58(6):1265-8. doi: 10.1203/01.pdr.0000183661.81772.f8. Pediatr Res. 2005. PMID: 16306205

5

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E. Raedt TD, et al. Among authors: wimmer k. Nat Genet. 2006 Dec;38(12):1419-23. doi: 10.1038/ng1920. Epub 2006 Nov 19. Nat Genet. 2006. PMID: 17115058

6

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H. Steinmann K, et al. Among authors: wimmer k. Am J Hum Genet. 2007 Dec;81(6):1201-20. doi: 10.1086/522089. Epub 2007 Oct 31. Am J Hum Genet. 2007. PMID: 17999360 Free PMC article.

7

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.

Fauth C, Kehrer-Sawatzki H, Zatkova A, Machherndl-Spandl S, Messiaen L, Amann G, Hainfellner JA, Wimmer K. Fauth C, et al. Among authors: wimmer k. Eur J Med Genet. 2009 Nov-Dec;52(6):409-14. doi: 10.1016/j.ejmg.2009.08.001. Epub 2009 Aug 7. Eur J Med Genet. 2009. PMID: 19665063

8

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: wimmer k. Hum Mutat. 2010 Mar;31(3):325-34. doi: 10.1002/humu.21191. Hum Mutat. 2010. PMID: 20052761

9

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Ganster C, Wernstedt A, Kehrer-Sawatzki H, Messiaen L, Schmidt K, Rahner N, Heinimann K, Fonatsch C, Zschocke J, Wimmer K. Ganster C, et al. Among authors: wimmer k. Hum Mutat. 2010 May;31(5):552-60. doi: 10.1002/humu.21223. Hum Mutat. 2010. PMID: 20186689 Free PMC article.

10

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: wimmer k. Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254. Hum Mutat. 2010. PMID: 20506354

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

204 results

Search Page

Filters