De Paepe A - Search Results

1

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Vanakker OM, et al. Among authors: de paepe a. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16. J Invest Dermatol. 2007. PMID: 17110937 Free article.

2

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Audo I, et al. Among authors: de paepe a. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6. doi: 10.1167/iovs.05-1604. Invest Ophthalmol Vis Sci. 2007. PMID: 17724214

3

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Vanakker OM, et al. Among authors: de paepe a. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9514. Hum Mutat. 2008. PMID: 18157818

4

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.

De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP. De Zaeytijd J, et al. Among authors: de paepe a, de laey jj. Br J Ophthalmol. 2010 Apr;94(4):479-86. doi: 10.1136/bjo.2009.162644. Epub 2009 Sep 1. Br J Ophthalmol. 2010. PMID: 19726431

5

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Costrop LM, et al. Among authors: de paepe a. J Hum Genet. 2010 Feb;55(2):112-7. doi: 10.1038/jhg.2009.132. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075945 Free article.

6

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.

Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: de paepe a. Lab Invest. 2010 Jun;90(6):895-905. doi: 10.1038/labinvest.2010.68. Epub 2010 Apr 5. Lab Invest. 2010. PMID: 20368697 Free article.

7

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: de paepe a. Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964806

8

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.

Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J. Campens L, et al. Among authors: de paepe a, de backer t, de backer j, de zaeytijd j. Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2646-52. doi: 10.1161/ATVBAHA.113.301901. Epub 2013 Aug 22. Arterioscler Thromb Vasc Biol. 2013. PMID: 23968982

9

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.

Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM. Hosen MJ, et al. Among authors: de paepe a. Orphanet J Rare Dis. 2014 Apr 29;9:66. doi: 10.1186/1750-1172-9-66. Orphanet J Rare Dis. 2014. PMID: 24775865 Free PMC article.

10

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM. Hosen MJ, et al. Among authors: de paepe a. J Invest Dermatol. 2015 Apr;135(4):992-998. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29. J Invest Dermatol. 2015. PMID: 25264593 Free PMC article.

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