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Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J. Carvalhal S, et al. Among authors: oostra ab. Sci Adv. 2022 Jan 21;8(3):eabk0114. doi: 10.1126/sciadv.abk0114. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044816 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. Among authors: oostra ab. Nat Commun. 2020 Aug 27;11(1):4287. doi: 10.1038/s41467-020-18066-8. Nat Commun. 2020. PMID: 32855419 Free PMC article.
Defects in the Fanconi Anemia Pathway and Chromatid Cohesion in Head and Neck Cancer.
Stoepker C, Ameziane N, van der Lelij P, Kooi IE, Oostra AB, Rooimans MA, van Mil SE, Brink A, Dietrich R, Balk JA, Ylstra B, Joenje H, Feller SM, Brakenhoff RH. Stoepker C, et al. Among authors: oostra ab. Cancer Res. 2015 Sep 1;75(17):3543-53. doi: 10.1158/0008-5472.CAN-15-0528. Epub 2015 Jun 29. Cancer Res. 2015. PMID: 26122845
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.
Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, de Winter JP, Joenje H. Levitus M, et al. Among authors: oostra ab. Blood. 2004 Apr 1;103(7):2498-503. doi: 10.1182/blood-2003-08-2915. Epub 2003 Nov 20. Blood. 2004. PMID: 14630800 Free article.
44 results