Sabine Defoort
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Explore the profile of Sabine Defoort including associated specialties, affiliations and a list of published articles.
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11
Citations
281
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Recent Articles
1.
Riquet A, Cleuziou P, Floret V, Quesque F, Defoort S, Smol T
Pediatr Neurol
. 2022 Dec;
139:22-23.
PMID: 36508879
Background: Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental...
2.
Dessein A, Hebbar E, Vamecq J, Lebredonchel E, Devos A, Ghoumid J, et al.
Mol Genet Metab Rep
. 2022 Jul;
31:100860.
PMID: 35782617
Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina...
3.
Schnebelen-Berthier C, Acar N, Simon E, Thabuis C, Bourdillon A, Mathiaud A, et al.
Nutrients
. 2021 Oct;
13(10).
PMID: 34684356
Background: Carotenoids and docosahexaenoic acid (DHA) were identified as essential components for eye health and are both naturally present in eggs. Objective: We aimed to evaluate the effect of the...
4.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim U, Kruszewski A, et al.
Brain Commun
. 2021 Sep;
3(3):fcab162.
PMID: 34466801
Pathogenic variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular...
5.
Khan M, Cornelis S, Del Pozo-Valero M, Whelan L, Runhart E, Mishra K, et al.
Genet Med
. 2020 Apr;
22(7):1235-1246.
PMID: 32307445
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in...
6.
Khan M, Cornelis S, Khan M, Elmelik D, Manders E, Bakker S, et al.
Hum Mutat
. 2019 Jun;
40(10):1749-1759.
PMID: 31212395
Purpose: Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed to develop a cost-effective sequencing method...
7.
Boucart M, Bubbico G, Szaffarczyk S, Defoort S, Ponchel A, Waucquier N, et al.
Behav Brain Res
. 2015 Jul;
292:443-7.
PMID: 26162753
We assessed the effects of donepezil, a drug that stimulates cholinergic transmission, and scopolamine, an antagonist of cholinergic transmission, on contrast sensitivity. 30 young male participants were tested under three...
8.
Masurel-Paulet A, Drumare I, Holder M, Cuisset J, Vallee L, Defoort S, et al.
Am J Med Genet A
. 2014 Mar;
164A(6):1537-44.
PMID: 24668847
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is...
9.
Outteryck O, Zephir H, Defoort S, Bouyon M, Debruyne P, Bouacha I, et al.
Arch Neurol
. 2009 Nov;
66(11):1373-7.
PMID: 19901169
Background: Optical coherence tomography has emerged as a new tool for quantifying axonal loss in multiple sclerosis (MS). A reduction in retinal nerve fiber layer (RNFL) thickness is correlated with...
10.
Ferre M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, et al.
Hum Mutat
. 2009 Mar;
30(7):E692-705.
PMID: 19319978
We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary...