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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. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Nat Commun. 2015. PMID: 26681308 Free PMC article.
Coregulation of FANCA and BRCA1 in human cells.
Haitjema A, Mol BM, Kooi IE, Massink MP, Jørgensen JA, Rockx DA, Rooimans MA, de Winter JP, Meijers-Heijboer H, Joenje H, Dorsman JC. Haitjema A, et al. Springerplus. 2014 Jul 28;3:381. doi: 10.1186/2193-1801-3-381. eCollection 2014. Springerplus. 2014. PMID: 25161863 Free PMC article.
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
Adank MA, Segers H, van Mil SE, van Helsdingen YM, Ameziane N, van den Ouweland AM, Wagner A, Meijers-Heijboer H, Kool M, de Kraker J, Waisfisz Q, van den Heuvel-Eibrink MM. Adank MA, et al. Pediatr Blood Cancer. 2010 Oct;55(4):742-4. doi: 10.1002/pbc.22588. Pediatr Blood Cancer. 2010. PMID: 20589654
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
226 results