De Paepe A - Search Results

1

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

2

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.

De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. De Leeneer K, et al. Among authors: de paepe a. Clin Chem. 2008 Jun;54(6):982-9. doi: 10.1373/clinchem.2007.098764. Epub 2008 Apr 10. Clin Chem. 2008. PMID: 18403564 Free article.

3

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.

De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. De Leeneer K, et al. Among authors: de paepe a. J Mol Diagn. 2009 Sep;11(5):415-9. doi: 10.2353/jmoldx.2009.090032. Epub 2009 Jul 30. J Mol Diagn. 2009. PMID: 19644020 Free PMC article.

4

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ. Baetens M, et al. Among authors: de leeneer k, de paepe a, de backer j, de schrijver j. Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20. Hum Mutat. 2011. PMID: 21542060

5

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K. De Leeneer K, et al. Among authors: de paepe a. Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7. Breast Cancer Res Treat. 2012. PMID: 21553119

6

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

7

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

8

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

9

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. Malfait F, et al. Among authors: de paepe a. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

10

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Hellemans J, et al. Among authors: de paepe a. Hum Mutat. 2006 Mar;27(3):290. doi: 10.1002/humu.9403. Hum Mutat. 2006. PMID: 16470551

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