Messiaen L - Search Results

1

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K. Suerink M, et al. Among authors: messiaen l. J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415209 Review.

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

4

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.

5

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP. Mantripragada KK, et al. Among authors: messiaen l. J Med Genet. 2006 Jan;43(1):28-38. doi: 10.1136/jmg.2005.033795. Epub 2005 Jun 8. J Med Genet. 2006. PMID: 15944227 Free PMC article.

6

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. Among authors: messiaen l. Genes Chromosomes Cancer. 2006 Mar;45(3):265-76. doi: 10.1002/gcc.20289. Genes Chromosomes Cancer. 2006. PMID: 16283621

7

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

Maertens O, Prenen H, Debiec-Rychter M, Wozniak A, Sciot R, Pauwels P, De Wever I, Vermeesch JR, de Raedt T, De Paepe A, Speleman F, van Oosterom A, Messiaen L, Legius E. Maertens O, et al. Among authors: messiaen l. Hum Mol Genet. 2006 Mar 15;15(6):1015-23. doi: 10.1093/hmg/ddl016. Epub 2006 Feb 6. Hum Mol Genet. 2006. PMID: 16461335

8

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E. De Raedt T, et al. Among authors: messiaen l. Genes Chromosomes Cancer. 2006 Oct;45(10):893-904. doi: 10.1002/gcc.20353. Genes Chromosomes Cancer. 2006. PMID: 16830335

9

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S, Speleman F, Legius E, Messiaen L. Maertens O, et al. Among authors: messiaen l. Hum Mutat. 2006 Oct;27(10):1030-40. doi: 10.1002/humu.20389. Hum Mutat. 2006. PMID: 16941471

10

Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.

Maertens O, Legius E, Speleman F, Messiaen L, Vandesompele J. Maertens O, et al. Among authors: messiaen l. Anal Biochem. 2006 Dec 1;359(1):144-6. doi: 10.1016/j.ab.2006.07.039. Epub 2006 Aug 14. Anal Biochem. 2006. PMID: 16962063 No abstract available.

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