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Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.
Franck S, Couvreu De Deckersberg E, Bubenik JL, Markouli C, Barbé L, Allemeersch J, Hilven P, Duqué G, Swanson MS, Gheldof A, Spits C, Sermon KD. Franck S, et al. Among authors: gheldof a. Biol Open. 2022 Jan 15;11(1):bio058978. doi: 10.1242/bio.058978. Epub 2022 Jan 12. Biol Open. 2022. PMID: 35019138 Free PMC article.
A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.
Van Der Kelen A, Okutman Ö, Javey E, Serdarogullari M, Janssens C, Ghosh MS, Dequeker BJH, Perold F, Kastner C, Kieffer E, Segers I, Gheldof A, Hes FJ, Sermon K, Verpoest W, Viville S. Van Der Kelen A, et al. Among authors: gheldof a. Hum Reprod Update. 2023 Mar 1;29(2):218-232. doi: 10.1093/humupd/dmac044. Hum Reprod Update. 2023. PMID: 36571510
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: gheldof a. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Vandervore LV, et al. Among authors: gheldof a. Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Brain. 2019. PMID: 30879067 Free PMC article.
I-PV: a CIRCOS module for interactive protein sequence visualization.
Tanyalcin I, Al Assaf C, Gheldof A, Stouffs K, Lissens W, Jansen AC. Tanyalcin I, et al. Among authors: gheldof a. Bioinformatics. 2016 Feb 1;32(3):447-9. doi: 10.1093/bioinformatics/btv579. Epub 2015 Oct 10. Bioinformatics. 2016. PMID: 26454277
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, Seneca S. Stouffs K, et al. Among authors: gheldof a. Biomed Res Int. 2016;2016:6191307. doi: 10.1155/2016/6191307. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925412 Free PMC article.
28 results