De Paepe A - Search Results

1

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. Among authors: de paepe a. Genet Med. 1999 Sep-Oct;1(6):248-53. doi: 10.1097/00125817-199909000-00002. Genet Med. 1999. PMID: 11258625 Free 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. Among authors: de paepe a. Hum Genet. 1997 Nov;101(1):75-80. doi: 10.1007/s004390050590. Hum Genet. 1997. PMID: 9385374

3

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: de paepe a. 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.

4

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S, Speleman F, Legius E, Messiaen L. Maertens O, et al. Among authors: de paepe a, de schepper s, de raedt t. Hum Mutat. 2006 Oct;27(10):1030-40. doi: 10.1002/humu.20389. Hum Mutat. 2006. PMID: 16941471

5

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: de paepe a. Biochem Biophys Res Commun. 1998 Nov 18;252(2):329-33. doi: 10.1006/bbrc.1998.9644. Biochem Biophys Res Commun. 1998. PMID: 9826529

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

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

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: de paepe a. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. J Med Genet. 2000. PMID: 10745044 Free PMC article.

9

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR. Hoornaert KP, et al. Among authors: de paepe a. J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155195 Free PMC article.

10

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Willaert A, et al. Among authors: de paepe a. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16. J Med Genet. 2009. PMID: 19088120

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