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Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
Tischkowitz M, Ameziane N, Waisfisz Q, De Winter JP, Harris R, Taniguchi T, D'Andrea A, Hodgson SV, Mathew CG, Joenje H. Tischkowitz M, et al. Among authors: joenje h. Br J Haematol. 2003 Nov;123(3):469-71. doi: 10.1046/j.1365-2141.2003.04640.x. Br J Haematol. 2003. PMID: 14617007 Free article.
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Xia B, et al. Among authors: joenje h. Nat Genet. 2007 Feb;39(2):159-61. doi: 10.1038/ng1942. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200672
A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG. Morgan NV, et al. Among authors: joenje h. Blood. 2005 May 1;105(9):3542-4. doi: 10.1182/blood-2004-10-3968. Epub 2005 Jan 18. Blood. 2005. PMID: 15657175 Free article.
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. Levitus M, et al. Among authors: joenje h. Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116423
Biallelic inactivation of BRCA2 in Fanconi anemia.
Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Howlett NG, et al. Among authors: joenje h. Science. 2002 Jul 26;297(5581):606-9. doi: 10.1126/science.1073834. Epub 2002 Jun 13. Science. 2002. PMID: 12065746
208 results