De Paepe A - Search Results

1

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. Among authors: de vos m, de paepe a. 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

2

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Claes K, Poppe B, Machackova E, Coene I, Foretova L, De Paepe A, Messiaen L. Claes K, et al. Among authors: de paepe a. Genes Chromosomes Cancer. 2003 Jul;37(3):314-20. doi: 10.1002/gcc.10221. Genes Chromosomes Cancer. 2003. PMID: 12759930

3

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. Beysen D, et al. Among authors: de paepe a, de baere e. Hum Mutat. 2004 Sep;24(3):189-93. doi: 10.1002/humu.20079. Hum Mutat. 2004. PMID: 15300845

4

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

De Leeneer K, Hellemans J, De Schrijver J, Baetens M, Poppe B, Van Criekinge W, De Paepe A, Coucke P, Claes K. De Leeneer K, et al. Among authors: de paepe a, de schrijver j. Hum Mutat. 2011 Mar;32(3):335-44. doi: 10.1002/humu.21428. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21305653

5

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.

Messiaen L, Van Loon C, Rossau R, De Canck I, De Baets F, Robbrecht E, De Paepe A. Messiaen L, et al. Among authors: de paepe a, de canck i, de baets f. Hum Mutat. 1997;10(3):236-8. doi: 10.1002/(SICI)1098-1004(1997)10:3<236::AID-HUMU10>3.0.CO;2-0. Hum Mutat. 1997. PMID: 9298825 No abstract available.

6

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. Among authors: de paepe a. Hum Genet. 1997 Nov;101(1):75-80. doi: 10.1007/s004390050590. Hum Genet. 1997. PMID: 9385374

7

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. Among authors: de vos m, de paepe a. Dis Markers. 1999 Oct;15(1-3):69-73. doi: 10.1155/1999/241046. Dis Markers. 1999. PMID: 10595255 Free PMC article.

8

Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach.

De Vos M, Poppe B, Delvaux I, Mortier G, Claes K, Messiaen L, De Paepe A. De Vos M, et al. Among authors: de paepe a. Dis Markers. 1999 Oct;15(1-3):191-5. doi: 10.1155/1999/809125. Dis Markers. 1999. PMID: 10595277 Free PMC article.

9

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: de paepe a. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277

10

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. Among authors: de paepe a. Oncogene. 2002 Jun 13;21(26):4171-5. doi: 10.1038/sj.onc.1205520. Oncogene. 2002. PMID: 12037674

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