Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

Bằng Weimer, Jörg, Heidemann, Simone, von Kaisenberg, Constantin S, Grote, Werner, Arnold, Norbert, Bens, Susanne, Caliebe, Almuth
Được phát hành 2011

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular kary...

Bằng Eckmann-Scholz Christel, Gesk Stefan, Nagel Inga, Haake Andrea, Bens Susanne, Heidemann Simone, Kautza Monika, Timke Christian, Siebert Reiner, Caliebe Almuth
Được phát hành 2010-09-01

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular kary...

Bằng Eckmann-Scholz, Christel, Gesk, Stefan, Nagel, Inga, Haake, Andrea, Bens, Susanne, Heidemann, Simone, Kautza, Monika, Timke, Christian, Siebert, Reiner, Caliebe, Almuth
Được phát hành 2010

The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity

Bằng Fickelscher, Ina , Liehr, Thomas , Watts, Kathryn , Bryant, Victoria , Barber, John C. K. , Heidemann, Simone , Siebert, Reiner , Hertz, Jens Michael , Tümer, Zeynep , Simon Thomas, N. 
Được phát hành 2007

DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples

Bằng Eckmann-Scholz, Christel, Bens, Susanne, Kolarova, Julia, Schneppenheim, Sina, Caliebe, Almuth, Heidemann, Simone, von Kaisenberg, Constantin, Kautza, Monika, Jonat, Walter, Siebert, Reiner, Ammerpohl, Ole
Được phát hành 2012

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

Bằng Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon
Được phát hành 2006

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Bằng Antoniou, Antonis C, Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I., Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S., Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall’Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I., Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E.J., Blok, Marinus J, Aalfs, Cora M., Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D. Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J., Porteous, Mary E., Walker, Lisa, Kennedy, M. John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K., Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L., Daly, Mary B., Terry, Mary B., John, Esther M., Buys, Saundra S., Yassin, Yosuf, Miron, Alex, Goldgar, David, Singer, Christian F., Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V. O., Jønson, Lars, Agnarsson, Bjarni A., Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Schwartz, Peter E., Blank, Stephanie V., Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J., Sucheston, Lara, Karlan, Beth Y., Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B., Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, Easton, Douglas F.
Được phát hành 2010

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Bằng Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os , Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet GEM, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Rogers, Mark T, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra Fert, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary Beth, Hopper, John L, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne Geschwantler, Hansen, Thomas VO, Nielsen, Finn C, Barkardottir, Rosa B, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, Piedmonte, Marion, Kirk, Judy, Cohn, David, Hurteau, Jean, Byron, John, Fiorica, James, Toland, Amanda E, Montagna, Marco, Oliani, Cristina, Imyanitov, Evgeny, Isaacs, Claudine, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Teulé, Alex, Valle, J Del, Gayther, Simon A, Odunsi, Kunle, Gross, Jenny, Karlan, Beth Y, Olah, Edith, Teo, Soo-Hwang, Ganz, Patricia A, Beattie, Mary S, Dorfling, Cecelia M, van Rensburg, Elizabeth Jansen, Diez, Orland, Kwong, Ava, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Muranen, Taru A, Lespérance, Bernard, Spurdle, Amanda B, Neuhausen, Susan L, Ding, Yuan C, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H, Loud, Jennifer T, Andrulis, Irene L, Ozcelik, Hilmi, Mulligan, Anna Marie, Glendon, Gord, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe B, Skytte, Anne-Bine, Kruse, Torben A, Chenevix-Trench, Georgia, Couch, Fergus J, Simard, Jacques, Easton, Douglas F
Được phát hành 2012

Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers

Bằng Ramus, Susan J., Antoniou, Antonis C, Kuchenbaecker, Karoline B., Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A., Liljegren, Annelie, Lindblom, Annika, Olsson, Håkan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowocka, Elżbieta, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Toloczko-Grabarek, Aleksandra, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Tejada, Maria-Isabel, Hamann, Ute, Rookus, Matti, van Leeuwen, Flora E., Aalfs, Cora M., Meijers-Heijboer, Hanne E.J., van Asperen, Christi J., van Roozendaal, K.E.P., Hoogerbrugge, Nicoline, Collée, J. Margriet, Kriege, Mieke, van der Luijt, Rob B., Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J., Walker, Lisa, Porteous, Mary E., Kennedy, M. John, Pathak, Harsh, Godwin, Andrew K., Stoppa-Lyonnet, Dominique, Caux-Moncoutier, Virginie, de Pauw, Antoine, Gauthier-Villars, Marion, Mazoyer, Sylvie, Léoné, Mélanie, Calender, Alain, Lasset, Christine, Bonadona, Valérie, Hardouin, Agnès, Berthet, Pascaline, Bignon, Yves-Jean, Uhrhammer, Nancy, Faivre, Laurence, Loustalot, Catherine, Buys, Saundra, Daly, Mary, Miron, Alex, Terry, Mary Beth, Chung, Wendy K., John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng, Pfeiler, Georg, Fink-Retter, Anneliese, Hansen, Thomas v. O., Ejlertsen, Bent, Johannsson, Oskar Th., Offit, Kenneth, Kirchhoff, Tomas, Gaudet, Mia M., Vijai, Joseph, Robson, Mark, Piedmonte, Marion, Phillips, Kelly-Anne, Van Le, Linda, Hoffman, James S, Toland, Amanda Ewart, Montagna, Marco, Tognazzo, Silvia, Imyanitov, Evgeny, Isaacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Tornero, Eva, Navarro, Matilde, Moysich, Kirsten B., Karlan, Beth Y., Gross, Jenny, Olah, Edith, Vaszko, Tibor, Teo, Soo-Hwang, Ganz, Patricia A., Beattie, Mary S., Dorfling, Cecelia M, van Rensburg, Elizabeth J, Diez, Orland, Kwong, Ava, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorotehea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Plante, Marie, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan Chun, Wang, Xianshu, Lindor, Noralane, Fredericksen, Zachary, Pankratz, V. Shane, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Pharoah, Paul D.P., Gayther, Simon A., Simard, Jacques, Easton, Douglas F., Couch, Fergus J., Chenevix-Trench, Georgia
Được phát hành 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Bằng Couch, Fergus J., Gaudet, Mia M., Antoniou, Antonis C., Ramus, Susan J., Kuchenbaecker, Karoline B., Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, Wang, Xianshu, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Healey, Sue, Sinilnikova, Olga M., Andrulis, Irene L., Ozcelik, Hilmi, Mulligan, Anna Marie, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe Birk, Skytte, Anne-Bine, Kruse, Torben A., Caligo, Maria A., von Wachenfeldt, Anna, Barbany-Bustinza, Gisela, Loman, Niklas, Soller, Maria, Ehrencrona, Hans, Karlsson, Per, Nathanson, Katherine L., Rebbeck, Timothy R., Domchek, Susan M., Jakubowska, Ania, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowocka, Elżbieta, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Cybulski, Cezary, Górski, Bohdan, Osorio, Ana, Durán, Mercedes, Tejada, María Isabel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B.L., van Os, Theo A., van Leeuwen, Flora E., Meijers-Heijboer, Hanne E.J., Wijnen, Juul, Blok, Marinus J., Kets, Marleen, Hooning, Maartje J., Oldenburg, Rogier A., Ausems, Margreet G.E.M., Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Jacobs, Chris, Eeles, Rosalind A., Adlard, Julian, Davidson, Rosemarie, Eccles, Diana M., Cole, Trevor, Cook, Jackie, Paterson, Joan, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley V., Morrison, Patrick J., Walker, Lisa, Porteous, Mary E., Kennedy, M. John, Side, Lucy E., Bove, Betsy, Godwin, Andrew K., Stoppa-Lyonnet, Dominique, Fassy-Colcombet, Marion, Castera, Laurent, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Bressac-de Paillerets, Brigitte, Caron, Olivier, Pujol, Pascal, Coupier, Isabelle, Delnatte, Capucine, Akloul, Linda, Lynch, Henry T., Snyder, Carrie L., Buys, Saundra S., Daly, Mary B., Terry, MaryBeth, Chung, Wendy K., John, Esther M., Miron, Alexander, Southey, Melissa C., Hopper, John L., Goldgar, David E., Singer, Christian F., Rappaport, Christine, Tea, Muy-Kheng M., Fink-Retter, Anneliese, Hansen, Thomas V. O., Nielsen, Finn C., Arason, Aðalgeir, Vijai, Joseph, Shah, Sohela, Sarrel, Kara, Robson, Mark E., Piedmonte, Marion, Phillips, Kelly, Basil, Jack, Rubinstein, Wendy S., Boggess, John, Wakeley, Katie, Ewart-Toland, Amanda, Montagna, Marco, Agata, Simona, Imyanitov, Evgeny N., Isaacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Feliubadalo, Lidia, Brunet, Joan, Gayther, Simon A, Pharoah, Paul PD, Odunsi, Kunle O., Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Teo, Soo Hwang, Ganz, Patricia A., Beattie, Mary S., van Rensburg, Elizabeth J., Dorfling, Cecelia M., Diez, Orland, Kwong, Ava, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Heinritz, Wolfram, Caldes, Trinidad, de la Hoya, Miguel, Muranen, Taru A., Nevanlinna, Heli, Tischkowitz, Marc D., Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan Chun, Lindor, Noralane M., Fredericksen, Zachary, Pankratz, V. Shane, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Bernard, Loris, Viel, Alessandra, Giannini, Giuseppe, Varesco, Liliana, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Easton, Douglas F., Chenevix-Trench, Georgia, Offit, Kenneth, Simard, Jacques
Được phát hành 2012