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Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H. Khandelwal KD, et al. Among authors: bloemen m. Am J Med Genet A. 2017 Jul;173(7):1813-1820. doi: 10.1002/ajmg.a.38274. Epub 2017 May 17. Am J Med Genet A. 2017. PMID: 28513979
Retinoic acid effects on in vitro palatal fusion and WNT signaling.
Roa Fuentes LA, Bloemen M, Carels CE, Wagener FA, Von den Hoff JW. Roa Fuentes LA, et al. Among authors: bloemen m. Eur J Oral Sci. 2022 Dec;130(6):e12899. doi: 10.1111/eos.12899. Epub 2022 Oct 27. Eur J Oral Sci. 2022. PMID: 36303276 Free PMC article.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Ockeloen CW, et al. Among authors: bloemen m. Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963285 Free PMC article.
A potential osteogenic role for microRNA-181a-5p during palatogenesis.
Schoen C, Bloemen M, Carels CEL, Verhaegh GW, Van Rheden R, Roa LA, Glennon JC, Von den Hoff JW. Schoen C, et al. Among authors: bloemen m. Eur J Orthod. 2023 Sep 18;45(5):575-583. doi: 10.1093/ejo/cjad037. Eur J Orthod. 2023. PMID: 37454242 Free PMC article.
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE. Khandelwal KD, et al. Among authors: bloemen m. J Dent Res. 2017 Feb;96(2):179-185. doi: 10.1177/0022034516678829. Epub 2016 Nov 13. J Dent Res. 2017. PMID: 27834299
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