Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

por van Harssel, J. J. T., van Roozendaal, C. E. P., Detisch, Y., Brandão, R. D., Paulussen, A. D. C., Zeegers, M., Blok, M. J., Gómez García, E. B.
Publicado 2009

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

por Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.
Publicado 2021

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

por Jakubowska, A, Rozkrut, D, Antoniou, A, Hamann, U, Scott, R J, McGuffog, L, Healy, S, Sinilnikova, O M, Rennert, G, Lejbkowicz, F, Flugelman, A, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Paligo, M, Aretini, P, Kantala, J, Aroer, B, von Wachenfeldt, A, Liljegren, A, Loman, N, Herbst, K, Kristoffersson, U, Rosenquist, R, Karlsson, P, Stenmark-Askmalm, M, Melin, B, Nathanson, K L, Domchek, S M, Byrski, T, Huzarski, T, Gronwald, J, Menkiszak, J, Cybulski, C, Serrano, P, Osorio, A, Cajal, T R, Tsitlaidou, M, Benítez, J, Gilbert, M, Rookus, M, Aalfs, C M, Kluijt, I, Boessenkool-Pape, J L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Asperen, C J, Blok, M J, Nelen, M R, van den Ouweland, A M W, Seynaeve, C, van der Luijt, R B, Devilee, P, Easton, D F, Peock, S, Frost, D, Platte, R, Ellis, S D, Fineberg, E, Evans, D G, Lalloo, F, Eeles, R, Jacobs, C, Adlard, J, Davidson, R, Eccles, D, Cole, T, Cook, J, Godwin, A, Bove, B, Stoppa-Lyonnet, D, Caux-Moncoutier, V, Belotti, M, Tirapo, C, Mazoyer, S, Barjhoux, L, Boutry-Kryza, N, Pujol, P, Coupier, I, Peyrat, J-P, Vennin, P, Muller, D, Fricker, J-P, Venat-Bouvet, L, Johannsson, O Th, Isaacs, C, Schmutzler, R, Wappenschmidt, B, Meindl, A, Arnold, N, Varon-Mateeva, R, Niederacher, D, Sutter, C, Deissler, H, Preisler-Adams, S, Simard, J, Soucy, P, Durocher, F, Chenevix-Trench, G, Beesley, J, Chen, X, Rebbeck, T, Couch, F, Wang, X, Lindor, N, Fredericksen, Z, Pankratz, V S, Peterlongo, P, Bonanni, B, Fortuzzi, S, Peissel, B, Szabo, C, Mai, P L, Loud, J T, Lubinski, J
Publicado 2012