Messiaen LM - Search Results

1

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: messiaen lm. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.

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. 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

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online.

Claes K, Machackova E, De Vos M, Mortier G, De Paepe A, Messiaen L. Claes K, et al. Hum Mutat. 1999;13(3):256. doi: 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M. Hum Mutat. 1999. PMID: 10090482

6

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.

Claes K, Machackova E, De Vos M, Poppe B, De Paepe A, Messiaen L. Claes K, et al. Dis Markers. 1999 Oct;15(1-3):69-73. doi: 10.1155/1999/241046. Dis Markers. 1999. PMID: 10595255 Free PMC article.

7

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

8

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.

9

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene.

Claes K, Vandesompele J, Poppe B, Dahan K, Coene I, De Paepe A, Messiaen L. Claes K, et al. Oncogene. 2002 Jun 13;21(26):4171-5. doi: 10.1038/sj.onc.1205520. Oncogene. 2002. PMID: 12037674

10

Complex splicing pattern generates great diversity in human NF1 transcripts.

Vandenbroucke I, Callens T, De Paepe A, Messiaen L. Vandenbroucke I, et al. 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.

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