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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1.
Genet Med. 2023.
PMID: 37658852
Free article.
No abstract available.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T.
de Boer E, et al. Among authors: kampen ra.
Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14.
Genet Med. 2022.
PMID: 35833929
Free article.
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Trauma-induced human glucocorticoid receptor expression increases predict subsequent HPA-axis blunting in a prospective longitudinal design.
de Voogd LD, Kampen RA, Kaldewaij R, Zhang W, Hashemi MM, Koch SBJ, Klumpers F, Glennon JC, Roelofs K.
de Voogd LD, et al. Among authors: kampen ra.
Psychoneuroendocrinology. 2022 Dec;146:105909. doi: 10.1016/j.psyneuen.2022.105909. Epub 2022 Aug 30.
Psychoneuroendocrinology. 2022.
PMID: 36162182
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Gestational oxidative stress protects against adult obesity and insulin resistance.
Dimova LG, Battista S, Plösch T, Kampen RA, Liu F, Verkaik-Schakel RN, Pratico D, Verkade HJ, Tietge UJF.
Dimova LG, et al. Among authors: kampen ra.
Redox Biol. 2020 Jan;28:101329. doi: 10.1016/j.redox.2019.101329. Epub 2019 Sep 17.
Redox Biol. 2020.
PMID: 31550664
Free PMC article.
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