Olivier Vanakker
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Explore the profile of Olivier Vanakker including associated specialties, affiliations and a list of published articles.
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867
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Recent Articles
11.
Kiss N, Fesus L, Bozsanyi S, Szeri F, Van Gils M, Szabo V, et al.
Lasers Med Sci
. 2020 May;
35(8):1821-1830.
PMID: 32372237
Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare autosomal recessive disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by mutations of the ABCC6 gene that leads...
12.
Sanchez-Tevar A, Garcia-Fernandez M, Murcia-Casas B, Rioja-Villodres J, Carrillo J, Camacho M, et al.
Ann Transl Med
. 2020 Feb;
7(24):798.
PMID: 32042814
Background: Inorganic pyrophosphate (PPi) plays a major role inhibiting dystrophic calcification. The aim was to analyze levels of PPi in patients having pseudoxanthoma elasticum (PXE), and controls as well as...
13.
Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destree A, et al.
Genet Med
. 2019 Jul;
22(1):112-123.
PMID: 31273343
Purpose: To date, heterozygous or homozygous COL12A1 variants have been reported in 13 patients presenting with a clinical phenotype overlapping with collagen VI-related myopathies and Ehlers-Danlos syndrome (EDS). The small...
14.
Nollet L, Van Gils M, Verschuere S, Vanakker O
Int J Mol Sci
. 2019 May;
20(9).
PMID: 31052252
Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired diseases characterized by aberrant deposition of calcium crystals in multiple organs, such as the skin, eyes, kidneys, and blood...
15.
Back M, Aranyi T, Cancela M, Carracedo M, Conceicao N, Leftheriotis G, et al.
Front Cardiovasc Med
. 2019 Feb;
5:196.
PMID: 30713844
The physicochemical deposition of calcium-phosphate in the arterial wall is prevented by calcification inhibitors. Studies in cohorts of patients with rare genetic diseases have shed light on the consequences of...
16.
David S, De Waele K, De Wilde B, Faes F, Vanakker O, Walraedt S, et al.
Acta Clin Belg
. 2018 Dec;
74(6):460-464.
PMID: 30501482
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3,...
17.
Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, et al.
Prenat Diagn
. 2018 Oct;
38(13):1120-1128.
PMID: 30334587
Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of...
18.
Descamps O, Van Caenegem O, Hermans M, Balligand J, Beauloye C, Bondue A, et al.
Atherosclerosis
. 2018 Oct;
277:369-376.
PMID: 30270073
Background And Aims: Familial hypercholesterolaemia (FH) is an autosomal dominant lipoprotein disorder characterized by significant elevation of low-density lipoprotein cholesterol (LDL-C) and markedly increased risk of premature cardiovascular disease (CVD)....
19.
Basilicata M, Bruel A, Semplicio G, Keller Valsecchi C, Aktas T, Duffourd Y, et al.
Nat Genet
. 2018 Sep;
50(10):1442-1451.
PMID: 30224647
The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report...
20.
Ramos E, Carecchio M, Lemos R, Ferreira J, Legati A, Sears R, et al.
Eur J Hum Genet
. 2018 Jun;
26(10):1462-1477.
PMID: 29955172
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait...