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Accelerated bone aging in the trichothiodystrophy mouse model.
Diderich KE, Hoeijmakers JH, van Leeuwen JP. Diderich KE, et al. J Gerontol A Biol Sci Med Sci. 2003 Nov;58(11):969. doi: 10.1093/gerona/58.11.b969. J Gerontol A Biol Sci Med Sci. 2003. PMID: 14630875 No abstract available.
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.
Reilly K, Sonner S, McCay N, Rolnik DL, Casey F, Seale AN, Watson CJ, Kan A, Lai THT, Chung BHY, Diderich KEM, Srebniak MI, Dempsey E, Drury S, Giordano J, Wapner R, Kilby MD, Chitty LS, Mone F. Reilly K, et al. Among authors: diderich kem. Prenat Diagn. 2024 Jun;44(6-7):821-831. doi: 10.1002/pd.6581. Epub 2024 May 6. Prenat Diagn. 2024. PMID: 38708840
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.
van der Pluijm I, Garinis GA, Brandt RM, Gorgels TG, Wijnhoven SW, Diderich KE, de Wit J, Mitchell JR, van Oostrom C, Beems R, Niedernhofer LJ, Velasco S, Friedberg EC, Tanaka K, van Steeg H, Hoeijmakers JH, van der Horst GT. van der Pluijm I, et al. Among authors: diderich ke. PLoS Biol. 2007 Jan;5(1):e2. doi: 10.1371/journal.pbio.0050002. PLoS Biol. 2007. PMID: 17326724 Free PMC article.
Age-related skeletal dynamics and decrease in bone strength in DNA repair deficient male trichothiodystrophy mice.
Nicolaije C, Diderich KE, Botter SM, Priemel M, Waarsing JH, Day JS, Brandt RM, Schilling AF, Weinans H, Van der Eerden BC, van der Horst GT, Hoeijmakers JH, van Leeuwen JP. Nicolaije C, et al. Among authors: diderich ke. PLoS One. 2012;7(4):e35246. doi: 10.1371/journal.pone.0035246. Epub 2012 Apr 10. PLoS One. 2012. PMID: 22506075 Free PMC article.
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM, Faramarz A, Balk JA, Stewart GS, Cantelli E, Oostra AB, Rooimans MA, Parish JL, de Almeida Estéves C, Dumic K, Barisic I, Diderich KEM, van Slegtenhorst MA, Mahtab M, Pisani FM, Te Riele H, Ameziane N, Wolthuis RMF, de Lange J. van Schie JJM, et al. Nat Commun. 2020 Aug 27;11(1):4287. doi: 10.1038/s41467-020-18066-8. Nat Commun. 2020. PMID: 32855419 Free PMC article.
72 results