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A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC. Ameziane N, et al. Among authors: joenje h. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Nat Commun. 2015. PMID: 26681308 Free PMC article.
The Fanconi anemia pathway of genomic maintenance.
Levitus M, Joenje H, de Winter JP. Levitus M, et al. Among authors: joenje h. Cell Oncol. 2006;28(1-2):3-29. doi: 10.1155/2006/974975. Cell Oncol. 2006. PMID: 16675878 Free PMC article. Review.
The genetic and molecular basis of Fanconi anemia.
de Winter JP, Joenje H. de Winter JP, et al. Among authors: joenje h. Mutat Res. 2009 Jul 31;668(1-2):11-9. doi: 10.1016/j.mrfmmm.2008.11.004. Epub 2008 Nov 14. Mutat Res. 2009. PMID: 19061902 Review.
A novel ubiquitin ligase is deficient in Fanconi anemia.
Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W. Meetei AR, et al. Among authors: joenje h. Nat Genet. 2003 Oct;35(2):165-70. doi: 10.1038/ng1241. Epub 2003 Sep 14. Nat Genet. 2003. PMID: 12973351
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: joenje h. 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.
208 results