Eva Y G De Vilder
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Explore the profile of Eva Y G De Vilder including associated specialties, affiliations and a list of published articles.
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5
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40
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Recent Articles
1.
De Vilder E, Martin L, Leftheriotis G, Coucke P, Van Nieuwerburgh F, Vanakker O
Front Cell Dev Biol
. 2021 Jun;
9:612581.
PMID: 34169069
Pseudoxanthoma elasticum (PXE), an ectopic mineralization disorder caused by pathogenic variants, is characterized by skin, ocular and cardiovascular (CV) symptoms. Due to striking phenotypic variability without genotype-phenotype correlations, modifier genes...
2.
De Vilder E, Hosen M, Martin L, De Zaeytijd J, Leroy B, Ebran J, et al.
Clin Genet
. 2020 Apr;
98(1):74-79.
PMID: 32270475
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to...
3.
De Vilder E, Cardoen S, Hosen M, Le Saux O, De Zaeytijd J, Leroy B, et al.
Brain Pathol
. 2018 May;
28(6):822-831.
PMID: 29722917
Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors. We investigated the ABCC6 gene as a...
4.
De Vilder E, Debacker J, Vanakker O
Int J Mol Sci
. 2017 Jan;
18(2).
PMID: 28125048
Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding gene are...
5.
De Vilder E, Hosen M, Vanakker O
Biomed Res Int
. 2015 Sep;
2015:648569.
PMID: 26356190
The knowledge on the genetic etiology of complex disorders largely results from the study of rare monogenic disorders. Often these common and rare diseases show phenotypic overlap, though monogenic diseases...