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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Coppieters F, et al. Among authors: de rocker n, de wilde b, de meester e, de baere e. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261762 Free article.
Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation.
Van Gorp H, Saavedra PH, de Vasconcelos NM, Van Opdenbosch N, Vande Walle L, Matusiak M, Prencipe G, Insalaco A, Van Hauwermeiren F, Demon D, Bogaert DJ, Dullaers M, De Baere E, Hochepied T, Dehoorne J, Vermaelen KY, Haerynck F, De Benedetti F, Lamkanfi M. Van Gorp H, et al. Among authors: de vasconcelos nm, de benedetti f, de baere e. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14384-14389. doi: 10.1073/pnas.1613156113. Epub 2016 Nov 22. Proc Natl Acad Sci U S A. 2016. PMID: 27911804 Free PMC article.
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.
Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F. Bogaert DJ, et al. Among authors: de baets f, de wilde h, de bruyne m, de baere e, de schryver s. Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4. Sci Rep. 2017. PMID: 28623346 Free PMC article.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Kathrin Mayer A, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group; De Baere E. Van Schil K, et al. Among authors: de preter k, de baere e. Genet Med. 2018 Feb;20(2):202-213. doi: 10.1038/gim.2017.97. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749477 Free PMC article.
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.
Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M. Bogaert DJ, et al. Among authors: de baets f, de bruyne m, de baere e. J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7. doi: 10.1016/j.jaci.2017.08.019. Epub 2017 Sep 18. J Allergy Clin Immunol. 2018. PMID: 28927821 Free PMC article. No abstract available.
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.
De Bruyne M, Hoste L, Bogaert DJ, Van den Bossche L, Tavernier SJ, Parthoens E, Migaud M, Konopnicki D, Yombi JC, Lambrecht BN, van Daele S, Alves de Medeiros AK, Brochez L, Beyaert R, De Baere E, Puel A, Casanova JL, Goffard JC, Savvides SN, Haerynck F, Staal J, Dullaers M. De Bruyne M, et al. Among authors: de baere e. Front Immunol. 2018 Oct 31;9:2366. doi: 10.3389/fimmu.2018.02366. eCollection 2018. Front Immunol. 2018. PMID: 30429846 Free PMC article.
217 results