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Year Number of Results
2008 1
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Page 1
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: defoort s. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF, Hebbar E, Vamecq J, Lebredonchel E, Devos A, Ghoumid J, Mention K, Dobbelaere D, Chevalier-Curt MJ, Fontaine M, Defoort S, Smirnov V, Douillard C, Dhaenens CM. Dessein AF, et al. Among authors: defoort s. Mol Genet Metab Rep. 2022 Mar 15;31:100860. doi: 10.1016/j.ymgmr.2022.100860. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782617 Free PMC article.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: defoort s. Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31212395
Optical coherence tomography in neuromyelitis optica.
de Seze J, Blanc F, Jeanjean L, Zéphir H, Labauge P, Bouyon M, Ballonzoli L, Castelnovo G, Fleury M, Defoort S, Vermersch P, Speeg C. de Seze J, et al. Among authors: defoort s. Arch Neurol. 2008 Jul;65(7):920-3. doi: 10.1001/archneur.65.7.920. Arch Neurol. 2008. PMID: 18625858
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: defoort s. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
The ALGOVUE Clinical Trial: Effects of the Daily Consumption of Eggs Enriched with Lutein and Docosahexaenoic Acid on Plasma Composition and Macular Pigment Optical Density.
Schnebelen-Berthier C, Acar N, Simon E, Thabuis C, Bourdillon A, Mathiaud A, Dauchet L, Delcourt C, Benlian P, Crochet M, Defoort S, Tailleux A, Staels B, Bretillon L, Lecerf JM. Schnebelen-Berthier C, et al. Among authors: defoort s. Nutrients. 2021 Sep 24;13(10):3347. doi: 10.3390/nu13103347. Nutrients. 2021. PMID: 34684356 Free PMC article. Clinical Trial.
11 results