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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: bleijerveld ob. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Nat Commun. 2015. PMID: 26681308 Free PMC article.
Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.
Bleijerveld OB, van Holten TC, Preisinger C, van der Smagt JJ, Farndale RW, Kleefstra T, Willemsen MH, Urbanus RT, de Groot PG, Heck AJ, Roest M, Scholten A. Bleijerveld OB, et al. Arterioscler Thromb Vasc Biol. 2013 Jul;33(7):1538-43. doi: 10.1161/ATVBAHA.112.300916. Epub 2013 Apr 25. Arterioscler Thromb Vasc Biol. 2013. PMID: 23619296
48 results