Wimmer K - Search Results

1

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

2

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.

Wimmer K, Mühlbauer M, Eckart M, Callens T, Rehder H, Birkner T, Leroy JG, Fonatsch C, Messiaen L. Wimmer K, et al. Eur J Hum Genet. 2002 May;10(5):334-8. doi: 10.1038/sj.ejhg.5200807. Eur J Hum Genet. 2002. PMID: 12082509

3

Distinct sequences on 11q13.5 and 11q23-24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients.

Zatkova A, Ullmann R, Rouillard JM, Lamb BJ, Kuick R, Hanash SM, Schnittger S, Schoch C, Fonatsch C, Wimmer K. Zatkova A, et al. Among authors: wimmer k. Genes Chromosomes Cancer. 2004 Apr;39(4):263-76. doi: 10.1002/gcc.20002. Genes Chromosomes Cancer. 2004. PMID: 14978788

4

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.

5

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K. Zatkova A, et al. Among authors: wimmer k. Hum Mutat. 2004 Dec;24(6):491-501. doi: 10.1002/humu.20103. Hum Mutat. 2004. PMID: 15523642

6

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

Messiaen LM, Wimmer K. Messiaen LM, et al. Among authors: wimmer k. J Med Genet. 2005 May;42(5):e25. J Med Genet. 2005. PMID: 15863657 Free PMC article. No abstract available.

7

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

8

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

9

GAB2 is a novel target of 11q amplification in AML/MDS.

Zatkova A, Schoch C, Speleman F, Poppe B, Mannhalter C, Fonatsch C, Wimmer K. Zatkova A, et al. Among authors: wimmer k. Genes Chromosomes Cancer. 2006 Sep;45(9):798-807. doi: 10.1002/gcc.20344. Genes Chromosomes Cancer. 2006. PMID: 16736498

10

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

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