The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Russo, M.P, Restagno, G, Nemeti, M, Ferec, C, Varon-Mateeva, R, Angelicheva, D, Dancheva, R, Romeo, G, Garnerone, S, Schwarz, M, Morral, N, Schwartz, M, Nunes, V, Reis, A, Kalaydjieva, L, Dallapiccola, B, Ferrari, M, Kadasi, L, Novelli, G, Macek, M, de Arce, M, Giménez, J, Desgeorges, M, Estivill, X, Kere, J, Claustres, M, Casals, T, Dahl, N, Anvret, M, Magnani, C, Bertranpetit, J
Published in Nature genetics (01.06.1994)
Published in Nature genetics (01.06.1994)
Get full text
Journal Article
A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women
Tchatchou, Sandrine, Jung, Anke, Hemminki, Kari, Sutter, Christian, Wappenschmidt, Barbara, Bugert, Peter, Weber, Bernhard H.F., Niederacher, Dieter, Arnold, Norbert, Varon-Mateeva, Raymonda, Ditsch, Nina, Meindl, Alfons, Schmutzler, Rita K., Bartram, Claus R., Burwinkel, Barbara
Published in Carcinogenesis (New York) (01.01.2009)
Published in Carcinogenesis (New York) (01.01.2009)
Get full text
Journal Article
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity
Tchatchou, Sandrine, Riedel, Angela, Lyer, Stefan, Schmutzhard, Julia, Strobel-Freidekind, Olga, Gronert-Sum, Sabine, Mietag, Carola, D'Amato, Mauro, Schlehe, Bettina, Hemminki, Kari, Sutter, Christian, Ditsch, Nina, Blackburn, Anneke, Hill, Linda Zhai, Jerry, D. Joseph, Bugert, Peter, Weber, Bernhard H.F, Niederacher, Dieter, Arnold, Norbert, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Bartram, Claus R, Mollenhauer, Jan, Burwinkel, Barbara
Published in Human mutation (2010)
Published in Human mutation (2010)
Get full text
Journal Article
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
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 (2012)
Published in British journal of cancer (2012)
Get full text
Journal Article
BRCA1/2-Mutationsprävalenz bei Patientinnen mit Triple-negativem Mammakarzinom und ohne familiäre Belastung für Brust- und Eierstockkrebs
Rhiem, K, Engel, C, Hahnen, E, Engel, J, Niederacher, D, Sutter, C, Varon-Mateeva, R, Steinemann, D, Arnold, N, Dworniczak, B, Wang-Gohrke, S, Gehrig, A, Meindl, A, Schmutzler, R
Published in Geburtshilfe und Frauenheilkunde (13.10.2016)
Published in Geburtshilfe und Frauenheilkunde (13.10.2016)
Get full text
Conference Proceeding
Journal Article
Analyse der BRCA1/2-Mutationsprävalenz bei Patientinnen mit Triple-negativem Mammakarzinom und ohne familiäre Belastung für Brust- und Eierstockkrebs
Rhiem, K, Engel, C, Hahnen, E, Engel, J, Niederacher, D, Sutter, C, Varon-Mateeva, R, Steinemann, D, Arnold, N, Dworniczak, B, Wang-Gohrke, S, Gehrig, A, Wappenschmidt, B, Meindl, A, Schmutzler, RK
Published in Senologie - Zeitschrift für Mammadiagnostik und -therapie (26.04.2016)
Published in Senologie - Zeitschrift für Mammadiagnostik und -therapie (26.04.2016)
Get full text
Conference Proceeding
Problems in detecting mosaic DNA methylation in Angelman syndrome
HORSTHEMKE, Bernhard, LICH, Christina, JANSSEN, Bart, KLEINLE, Stephanie, KOCHHAN, Lothar, KRASEMANN, Ernst, KRAUS, Cornelia, KROISEL, Peter, PLENDL, Hansjörg, PURMANN, Sabine, SANDER, Gabriele, SKLADNY, Heyko, BUITING, Karin, SPITZER, Eva, THAMM-MÜCKE, Barbara, VARON-MATEEVA, Raymonda, WEINHÄUSEL, Andreas, WEIRICH, Helga, ACHMANN, Roland, AULEHLA-SCHOLZ, Christa, BAUMER, Alessandra, BÜRGER, Joachim, DWORNICZAK, Bernd, GLÄSER, Dieter, HOLINSKI-FEDER, Elke
Published in European journal of human genetics : EJHG (01.12.2003)
Published in European journal of human genetics : EJHG (01.12.2003)
Get full text
Journal Article
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival
MACEK, M. JR, MACEK, M. SR, KRAWCZAK, M, CUTTING, G. R, KREBSOVA, A, NASH, E, HAMOSH, A, REIS, A, VARON-MATEEVA, R, SCHMIDTKE, J, MAESTRI, N. E, SPERLING, K
Published in Human genetics (01.05.1997)
Published in Human genetics (01.05.1997)
Get full text
Journal Article
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers
Di Masi, Alessandra, Antoccia, Antonio, Spadoni, Emanuela, Varon-Mateeva, Raymonda, Maraschio, Paola, Tanzarella, Caterina
Published in Genetic testing (01.03.2006)
Published in Genetic testing (01.03.2006)
Get more information
Journal Article