Messiaen LM - Search Results

1

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

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

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

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. Hum Mutat. 2004 Dec;24(6):491-501. doi: 10.1002/humu.20103. Hum Mutat. 2004. PMID: 15523642

4

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

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. Nat Genet. 2006 Dec;38(12):1419-23. doi: 10.1038/ng1920. Epub 2006 Nov 19. Nat Genet. 2006. PMID: 17115058

6

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L. Wimmer K, et al. Hum Mutat. 2007 Jun;28(6):599-612. doi: 10.1002/humu.20493. Hum Mutat. 2007. PMID: 17311297

7

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.

Etzler J, Peyrl A, Zatkova A, Schildhaus HU, Ficek A, Merkelbach-Bruse S, Kratz CP, Attarbaschi A, Hainfellner JA, Yao S, Messiaen L, Slavc I, Wimmer K. Etzler J, et al. Hum Mutat. 2008 Feb;29(2):299-305. doi: 10.1002/humu.20657. Hum Mutat. 2008. PMID: 18030674

8

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. 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

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. Hum Mutat. 2010 May;31(5):552-60. doi: 10.1002/humu.21223. Hum Mutat. 2010. PMID: 20186689 Free PMC article.

10

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. Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9. Hum Mutat. 2012. PMID: 22045503

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