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patient fancd mutation fa-d 2 patients cancer protein genetic study fanconi anemia mrg 15 result genet university breast genetics volume 80 fancd 2 analysis table brca 1 american journal department research carrier figure fanconi anemia fancd 2 protein control panel sequence group exon 22 center level journal pathway genomic morf 4l repair institute american blood family splice brca 2 sfa-d region intron hospital rad 51 brca risk palb 2 oncology 19 q 12 interaction complementation association assay model centre allele cohort phenotype damage base substitution brc -2 medicine / european journal breast cancer risk martrat substitution elegan fi broblasts volume breast cancer susceptibility www.ajhg.org mosaicism number duplication
3 Most Recent Publications
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A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12
(Article)
Bartsch, O. Schindler, D. Poot, M. Beyer, V. Gesk, S. Van'T Slot, R. Feddersen, I. Buijs, A. Jaspers, N.G.J. Siebert, R. Haaf, T. |
2012-01-01
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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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