Messiaen L - Search Results

1

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

2

Lack of independence between five DNA polymorphisms in the NF1 gene.

Messiaen L, De Bie S, Moens T, Van den Enden A, Leroy J. Messiaen L, et al. Hum Mol Genet. 1993 Apr;2(4):485. doi: 10.1093/hmg/2.4.485. Hum Mol Genet. 1993. PMID: 8504312 No abstract available.

3

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

4

Independent NF1 mutations in two large families with spinal neurofibromatosis.

Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M. Messiaen L, et al. J Med Genet. 2003 Feb;40(2):122-6. doi: 10.1136/jmg.40.2.122. J Med Genet. 2003. PMID: 12566521 Free PMC article. No abstract available.

5

Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.

Kehrer-Sawatzki H, Messiaen L. Kehrer-Sawatzki H, et al. Among authors: messiaen l. Hum Genet. 2003 Jul;113(2):188-90. doi: 10.1007/s00439-003-0955-z. Epub 2003 Apr 16. Hum Genet. 2003. PMID: 12698359 No abstract available.

6

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

7

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.

8

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.

9

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: messiaen lm. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16. Am J Hum Genet. 2005. PMID: 15962237 Free PMC article.

10

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

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