Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF

by Houdayer, C., Gauthier‐Villars, M., Laugé, A., Pagès‐Berhouet, S., Dehainault, C., Caux‐Moncoutier, V., Karczynski, P., Tosi, M., Doz, F., Desjardins, L., Couturier, J., Stoppa‐Lyonnet, D.
Published in Human mutation

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

by Dehainault, C., Laugé, A., Caux-Moncoutier, V., Pagès-Berhouet, S., Doz, F., Desjardins, L., Couturier, J., Gauthier-Villars, M., Stoppa-Lyonnet, D., Houdayer, C.
Published in Nucleic acids research

Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an american breast/ovarian cancer family previously studied by direct sequencing

by GAD, Sophie, SCHEUNER, Maren T, PAGES-BERHOUET, Sabine, CAUX-MONCOUTIER, Virginie, BENSIMON, Aaron, AURIAS, Alain, PINTO, Mark, STOPPA-LYONNET, Dominique
Published in Journal of medical genetics

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

by Gad, S, Klinger, M, Caux-Moncoutier, V, Pages-Berhouet, S, Gauthier-Villars, M, Coupier, I, Bensimon, A, Aurias, A, Stoppa-Lyonnet, D
Published in Journal of medical genetics

Germline \textitBAP1 mutations predispose to renal cell carcinomas

by Popova, T., Hebert, L., Jacquemin, V., Gad, S., Caux-Moncoutier, V., Dubois-d'Enghien, C., Richaudeau, B., Renaudin, X., Sellers, J., Nicolas, A., Sastre-Garau, X., Desjardins, L., Gyapay, G., Raynal, V., Sinilnikova, O. M., Andrieu, N., Manie, E., Pauw, A. De, Gesta, P., Bonadona, V., Maugard, C. M., Penet, C., Avril, M. F., Barillot, E., Cabaret, O., Delattre, O., Richard, S., Caron, O., Benfodda, M., Hu, H. H., Soufir, N., Bressac-de Paillerets, B., Stoppa-Lyonnet, D., Stern, M. H.
Published in American journal of human genetics

Diagnostic moléculaire du rétinoblastome dans une série de 192 patients

by Houdayer, C, Gauthier-Villars, M, Dehainault, C, Pagès-Berhouet, S, Laugé, A, Caux-Moncoutier, V, Karczynski, P, Tosi, M, Doz, F, Desjardins, L, Couturier, J, Stoppa-Lyonnet, D
Published in Immuno-analyse & biologie spécialisée

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

by Jakubowska, A, Rozkrut, D, Antoniou, A, 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, Marie, Melin, B, Nathanson, K L, Domchek, S M, Byrski, T, Gronwald, J, Menkiszak, J, Serrano, P, Osorio, A, Cajal, T R, Tsitlaidou, M, Benitez, J, Gilbert, M, Rookus, M, Kluijt, I, Boessenkool-Pape, J L, Meijers-Heijboer, H E J, C Oosterwijk, J, J van Asperen, C, J Blok, M, R Nelen, M, M W van den Ouweland, A, Seynaeve, C, B van der Luijt, R, Devilee, P, F Easton, D, Peock, S, Frost, D, D Ellis, S, Fineberg, E, G Evans, D, Eeles, R, Jacobs, C, Adlard, J, Davidson, R, Eccles, D, Cole, T, Cook, J, Godwin, A, Bove, B, Stoppa-Lyonnet, D, Belotti, M, Mazoyer, S, Barjhoux, L, Boutry-Kryza, N, Pujol, P, Peyrat, J-P, Vennin, P, Muller, D, Fricker, J-P, Venat-Bouvet, L, Johannsson, OTh, Isaacs, C, Schmutzler, R, Wappenschmidt, B, Arnold, N, Varon-Mateeva, R, Niederacher, D, Sutter, C, Preisler-Adams, S, Simard, J, Soucy, P, Durocher, F, Beesley, J, Chen, X, Couch, F, Wang, X, Fredericksen, Z, S Pankratz, V, Peterlongo, P, Bonanni, B, Fortuzzi, S, Peissel, B, Szabo, C, L Mai, P, T Loud, J
Published in British journal of cancer

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

by Jakubowska, A., Rozkrut, D., Antoniou, A., Hamann, U., Scott, R. J., McGuffog, L., Sinilnikova, O. M., Rennert, G., Lejbkowicz, F., Flugelman, A., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Kantala, J., Aroer, B., Von Wachenfeldt, A., Liljegren, A., Loman, N., Kristoffersson, U., Rosenquist, R., Karlsson, P., Stenmark-Askmalm, M., Nathanson, K. L., Domchek, S. M., Byrski, T., Gronwald, J., Cybulski, C., Serrano, P., Osorio, A., Cajal, T. R., Tsitlaidou, M., Benitez, J., Gilbert, M., Rookus, M., Aalfs, C. M., Kluijt, I., Boessenkool-Pape, J. L., Oosterwijk, J. C., van Asperen, C. J., Blok, M. J., Nelen, M. R., van den Ouweland, A. M. W., 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., 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., Vennin, P., Muller, D., Fricker, J-P, Venat-Bouvet, L., Johannsson, OTh, 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., Pankratz, V. S., Peterlongo, P., Bonanni, B., Fortuzzi, S., Peissel, B., Mai, P. L., Loud, J. T., Lubinski, J.
Published in British journal of cancer