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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: dorsman jc. Nat Genet. 2007 Feb;39(2):159-61. doi: 10.1038/ng1942. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200672
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: dorsman jc. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Nat Commun. 2015. PMID: 26681308 Free PMC article.
Identification of the Fanconi anemia complementation group I gene, FANCI.
Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H. Dorsman JC, et al. Cell Oncol. 2007;29(3):211-8. doi: 10.1155/2007/151968. Cell Oncol. 2007. PMID: 17452773 Free PMC article.
A protein prioritization approach tailored for the FA/BRCA pathway.
Haitjema A, Brandt BW, Ameziane N, May P, Heringa J, de Winter JP, Joenje H, Dorsman JC. Haitjema A, et al. Among authors: dorsman jc. PLoS One. 2013 Apr 19;8(4):e62017. doi: 10.1371/journal.pone.0062017. Print 2013. PLoS One. 2013. PMID: 23620800 Free PMC article.
Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.
Meyer S, Stevens A, Paredes R, Schneider M, Walker MJ, Williamson AJK, Gonzalez-Sanchez MB, Smetsers S, Dalal V, Teng HY, White DJ, Taylor S, Muter J, Pierce A, de Leonibus C, Rockx DAP, Rooimans MA, Spooncer E, Stauffer S, Biswas K, Godthelp B, Dorsman J, Clayton PE, Sharan SK, Whetton AD. Meyer S, et al. Cell Death Dis. 2017 Jun 15;8(6):e2875. doi: 10.1038/cddis.2017.264. Cell Death Dis. 2017. PMID: 28617445 Free PMC article.
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
Ameziane N, Sie D, Dentro S, Ariyurek Y, Kerkhoven L, Joenje H, Dorsman JC, Ylstra B, Gille JJ, Sistermans EA, de Winter JP. Ameziane N, et al. Among authors: dorsman jc. Anemia. 2012;2012:132856. doi: 10.1155/2012/132856. Epub 2012 Jun 3. Anemia. 2012. PMID: 22720145 Free PMC article.
73 results