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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M. González-Acosta M, et al. Among authors: bonifaci n. J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494577 Free PMC article.
Biological convergence of cancer signatures.
Solé X, Bonifaci N, López-Bigas N, Berenguer A, Hernández P, Reina O, Maxwell CA, Aguilar H, Urruticoechea A, de Sanjosé S, Comellas F, Capellá G, Moreno V, Pujana MA. Solé X, et al. Among authors: bonifaci n. PLoS One. 2009;4(2):e4544. doi: 10.1371/journal.pone.0004544. Epub 2009 Feb 20. PLoS One. 2009. PMID: 19229342 Free PMC article.
Exploring the link between MORF4L1 and risk of breast cancer.
Martrat G, Maxwell CM, Tominaga E, Porta-de-la-Riva M, Bonifaci N, Gómez-Baldó L, Bogliolo M, Lázaro C, Blanco I, Brunet J, Aguilar H, Fernández-Rodríguez J, Seal S, Renwick A, Rahman N, Kühl J, Neveling K, Schindler D, Ramírez MJ, Castellà M, Hernández G; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Ong KR, Cook J, Douglas F, Hodgson S, Brewer C, Morrison PJ, Porteous M, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Pasini B, Ottini L, Putignano AL, Savarese A, Bernard L, Radice P, Healey S, Spurdle A, Chen X, Beesley J; kConFab; Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Asperen CJ, Bodmer D, Ausems MG, van Os TA, Blok MJ, Meijers-Heijboer HE, Hogervorst FB; HEBON; Goldgar DE, Buys S, John EM, Miron A, Southey M, Daly MB; BCFR; SWE-BRCA; Harbst K, Borg A, Rantala J, Barbany-Bustinza G, Ehrencrona H, Stenmark-Askmalm M, Kaufman B, Laitman Y, Milgrom R, Friedman E, Domchek SM, Nathanson KL, Rebbeck TR, Johannsson OT, Couch FJ, Wang X, Fredericksen Z, Cuadras D, Moreno V, Pientka FK, Depping R, Caldés T, Osorio A, Benítez J, Bueren J, Heikkinen T, N… See abstract for full author list ➔ Martrat G, et al. Among authors: bonifaci n. Breast Cancer Res. 2011 Apr 5;13(2):R40. doi: 10.1186/bcr2862. Breast Cancer Res. 2011. PMID: 21466675 Free PMC article.
Evidence for a link between TNFRSF11A and risk of breast cancer.
Bonifaci N, Palafox M, Pellegrini P, Osorio A, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Mariette F, Bernard L, Radice P, Kaufman B, Laitman Y, Milgrom R, Friedman E, Sáez ME, Climent F, Soler MT, Diez O, Balmaña J, Lasa A, Ramón y Cajal T, Miramar MD, de la Hoya M, Pérez-Segura P, Caldés T, Moreno V, Urruticoechea A, Brunet J, Lázaro C, Blanco I, Pujana MA, González-Suárez E. Bonifaci N, et al. Breast Cancer Res Treat. 2011 Oct;129(3):947-54. doi: 10.1007/s10549-011-1546-7. Epub 2011 May 4. Breast Cancer Res Treat. 2011. PMID: 21541702
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Vijayakumar S, Martinez-Ruiz H, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espín R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C; GEMO; CIMBA; Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA. Ruiz de Garibay G, et al. Among authors: bonifaci n. Hum Mutat. 2021 Nov;42(11):1488-1502. doi: 10.1002/humu.24276. Epub 2021 Aug 31. Hum Mutat. 2021. PMID: 34420246
TACC3-TSC2 maintains nuclear envelope structure and controls cell division.
Gómez-Baldó L, Schmidt S, Maxwell CA, Bonifaci N, Gabaldón T, Vidalain PO, Senapedis W, Kletke A, Rosing M, Barnekow A, Rottapel R, Capellá G, Vidal M, Astrinidis A, Piekorz RP, Pujana MA. Gómez-Baldó L, et al. Among authors: bonifaci n. Cell Cycle. 2010 Mar 15;9(6):1143-55. doi: 10.4161/cc.9.6.11018. Epub 2010 Mar 15. Cell Cycle. 2010. PMID: 20237422
44 results