Messiaen L - Search Results

1

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.

2

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Messiaen L, Callens T, De Paepe A, Craen M, Mortier G. Messiaen L, et al. Hum Genet. 1997 Nov;101(1):75-80. doi: 10.1007/s004390050590. Hum Genet. 1997. PMID: 9385374

3

Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method.

Messiaen L, Callens T, Baele G. Messiaen L, et al. Haemostasis. 1997 Sep-Oct;27(5):228-36. doi: 10.1159/000217461. Haemostasis. 1997. PMID: 9690481

4

Human myosin V gene produces different transcripts in a cell type-specific manner.

Lambert J, Naeyaert JM, Callens T, De Paepe A, Messiaen L. Lambert J, et al. Among authors: messiaen l. Biochem Biophys Res Commun. 1998 Nov 18;252(2):329-33. doi: 10.1006/bbrc.1998.9644. Biochem Biophys Res Commun. 1998. PMID: 9826529

5

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Messiaen LM, et al. Hum Mutat. 2000;15(6):541-55. doi: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10862084

6

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Messiaen LM, Callens T, Roux KJ, Mortier GR, De Paepe A, Abramowicz M, Pericak-Vance MA, Vance JM, Wallace MR. Messiaen LM, et al. Genet Med. 1999 Sep-Oct;1(6):248-53. doi: 10.1097/00125817-199909000-00002. Genet Med. 1999. PMID: 11258625 Free article.

7

Quantification of splice variants using real-time PCR.

Vandenbroucke II, Vandesompele J, Paepe AD, Messiaen L. Vandenbroucke II, et al. Among authors: messiaen l. Nucleic Acids Res. 2001 Jul 1;29(13):E68-8. doi: 10.1093/nar/29.13.e68. Nucleic Acids Res. 2001. PMID: 11433044 Free PMC article.

8

Complex splicing pattern generates great diversity in human NF1 transcripts.

Vandenbroucke I, Callens T, De Paepe A, Messiaen L. Vandenbroucke I, et al. Among authors: messiaen l. BMC Genomics. 2002 May 24;3:13. doi: 10.1186/1471-2164-3-13. Epub 2002 May 24. BMC Genomics. 2002. PMID: 12057013 Free PMC article.

9

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

10

Quantification of NF1 transcripts reveals novel highly expressed splice variants.

Vandenbroucke I, Vandesompele J, De Paepe A, Messiaen L. Vandenbroucke I, et al. Among authors: messiaen l. FEBS Lett. 2002 Jul 3;522(1-3):71-6. doi: 10.1016/s0014-5793(02)02887-9. FEBS Lett. 2002. PMID: 12095621 Free article.

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