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patient fancd mutation fa-d 2 patients cancer protein study fanconi genetic anemia mrg 15 university breast genetics volume 80 fancd 2 table result american journal brca 1 department research carrier figure fanconi anemia fancd 2 protein analysis control sequence genet group center pathway morf 4l repair institute american family exon 22 splice brca 2 sfa-d panel intron hospital rad 51 brca risk level palb 2 oncology journal interaction complementation association assay model centre allele cohort base substitution brc -2 medicine breast cancer risk blood martrat substitution genomic elegan fi broblasts volume breast cancer mosaicism susceptibility www.ajhg.org number primers morf 4l locus mutant spain dna double-strand breaks fancd 2 gene
2 Most Recent Publications
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Exploring the link between MORF4L1 and risk of breast cancer
(Article)
Martrat, G. Maxwell, C.A. Aguilar, H. Torres, D. Caligo, M.A. Godwin, A.K. Imyanitov, E.N. Janavicius, R. Sinilnikova, O. Stoppa-Lyonnet, D. Mazoyer, S. Verny-Pierre, C. Castera, L. Fernández-Rodríguez, J. Pauw, A. de Bignon, Y. Uhrhammer, N. Peyrat, J.-P. Vennin, P. Ferrer, S.F. Collonge-Rame, M.-A. Mortemousque, I. McGuffog, L. Chenevix-Trench, G. Seal, S. Pereira-Smith, O.M. Antoniou, A.C. Cerón, J. Surrallés, J. Pujana, M.A. Asperen, C.J. van Renwick, A. Rahman, N. Kühl, J. Neveling, K. Schindler, D. Ramírez, M.J. Castellà, M. Tominaga, E. Hernández, G. Easton, D.F. Peock, S. Cook, J. Oliver, C. Frost, D. Platte, R. Evans, D.G. Lalloo, F. Eeles, R. Porta-de-la-Riva, M. Izatt, L. Chu, C. Davidson, R. Ong, K. Douglas, F. Hodgson, S.V. Brewer, C. Morrison, P.J. Porteous, M.E. Peterlongo, P. Bonifaci, N. Manoukian, S. Peissel, B. Zaffaroni, D. Roversi, G. Barile, M. Viel, A. Pasini, B. Ottini, L. Putignano, A.L. Savarese, A. Gómez-Baldó, L. Bernard, L. Radice, P. Healey, S. Spurdle, A.B. Chen, X. Beesley, J. Rookus, M.A. Verhoef, S. Tilanus-Linthorst, M.M.A. Vreeswijk, M.P. Bogliolo, M. Bodmer, D. Ausems, M.G.E.M. Os, T.A.M. van Blok, M.J. Meijers-Heijboer, E.J. Hogervorst, F.B.L. Goldgar, D. Buys, S.S. John, E.M. Miron, A. Lázaro, C. Southey, M.C. Daly, M. Harbst, K. Borg, A. Rantala, J. Barbany-Bustinza, G. Ehrencrona, H. Stenmark-Askmalm, M. Kaufman, B. Laitman, Y. Blanco, I. Milgrom, R. Friedman, E. Domchek, S.M. Nathanson, K.L. Rebbeck, T.R. Johannsson, O.T. Couch, F.J. Wang, X. Fredericksen, Z. Cuadras, D. Brunet, J. Moreno, V. Pientka, F.K. Depping, R. Caldes, T. Osorio, A. Benítez, J. Bueren, J. Heikinen, T. Nevanlinna, H. Hamann, U. |
2011-04-05
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Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
(Article)
Kalb, R. Neveling, K. Casado, J.A. Bueren, J. Dasí, Á. Soulier, J. Gluckman, E. Zwaan, C.M. Spaendonk, R. van Pals, G. Winter, J.P. de Joenje, H. Hoehn, H. Grompe, M. Auerbach, A.D. Hanenberg, H. Schindler, D. Schneider, H. Linka, Y. Batish, S.D. Hunt, C. Berwick, M. Callén, E. Surrallés, J. |
2007-05-01
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