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Year Number of Results
2012 1
2013 1
2015 7
2016 2
2017 2
2018 6
2019 1
2021 1
2022 3
2023 1
2024 0

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23 results

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Page 1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI.
Tang M, Boel A, Castelluccio N, Cardona Barberán A, Christodoulaki A, Bekaert B, Popovic M, Vanden Meerschaut F, De Sutter P, Menten B, Symoens S, Vanlander AV, Stoop D, Coucke PJ, Heindryckx B. Tang M, et al. Among authors: vanlander av. J Assist Reprod Genet. 2022 Mar;39(3):609-618. doi: 10.1007/s10815-022-02401-7. Epub 2022 Jan 22. J Assist Reprod Genet. 2022. PMID: 35064435 Free PMC article.
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.
Rosier K, McDevitt MT, Smet J, Floyd BJ, Verschoore M, Marcaida MJ, Bingman CA, Lemmens I, Dal Peraro M, Tavernier J, Cravatt BF, Gounko NV, Vints K, Monnens Y, Bhalla K, Aerts L, Rashan EH, Vanlander AV, Van Coster R, Régal L, Pagliarini DJ, Creemers JWM. Rosier K, et al. Among authors: vanlander av. iScience. 2021 Nov 14;24(12):103460. doi: 10.1016/j.isci.2021.103460. eCollection 2021 Dec 17. iScience. 2021. PMID: 34888501 Free PMC article.
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA. Schuermans N, et al. Among authors: vanlander av. Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y. Orphanet J Rare Dis. 2022. PMID: 35606766 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: vanlander av. 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.
23 results