Dorien Schepers
Overview
Explore the profile of Dorien Schepers including associated specialties, affiliations and a list of published articles.
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20
Citations
766
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Recent Articles
11.
Alaerts M, Van De Beek G, Luyckx I, Meester J, Schepers D, Verstraeten A, et al.
Front Med (Lausanne)
. 2019 Sep;
6:198.
PMID: 31555651
Cardiogeneticsbank@UZA is an academic hospital integrated biobank that collects aortic tissue, blood, cell lines (fibroblasts, vascular smooth muscle cells, peripheral blood mononuclear cells, and induced pluripotent stem cells), and DNA...
12.
Letard P, Schepers D, Albuisson J, Bruneval P, Spaggiari E, Van De Beek G, et al.
Mol Syndromol
. 2018 Aug;
9(4):190-196.
PMID: 30140196
mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases...
13.
Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, et al.
BMC Med Genet
. 2018 Aug;
19(1):140.
PMID: 30089473
Background: Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more...
14.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, et al.
J Med Genet
. 2018 Jul;
56(4):220-227.
PMID: 29967133
Background: Missense variants in , encoding a key transcriptional regulator of transforming growth factor beta signalling, were recently reported to cause arterial aneurysmal disease. Objectives: The aims of the study...
15.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, et al.
Hum Mutat
. 2018 Feb;
39(5):621-634.
PMID: 29392890
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad...
16.
Meester J, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys B
Ann Cardiothorac Surg
. 2017 Dec;
6(6):582-594.
PMID: 29270370
Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin,...
17.
Bolar N, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, et al.
Am J Hum Genet
. 2016 Jul;
99(1):174-87.
PMID: 27392076
Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation....
18.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
Schepers D, Doyle A, Oswald G, Sparks E, Myers L, Willems P, et al.
Eur J Hum Genet
. 2014 Apr;
23(2):224-8.
PMID: 24736733
Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS)...
19.
Orhan G, Bock M, Schepers D, Ilina E, Reichel S, Loffler H, et al.
Ann Neurol
. 2013 Dec;
75(3):382-94.
PMID: 24318194
Objective: Mutations in KCNQ2 and KCNQ3, encoding the voltage-gated potassium channels KV 7.2 and KV 7.3, are known to cause benign familial neonatal seizures mainly by haploinsufficiency. Here, we set...
20.
Doyle A, Doyle J, Bessling S, Maragh S, Lindsay M, Schepers D, et al.
Nat Genet
. 2012 Oct;
44(11):1249-54.
PMID: 23023332
Elevated transforming growth factor (TGF)-β signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and...