Items where Author is "Faivre, Laurence"

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Rebbeck, Timothy R. and Friebel, Tara M. and Friedman, Eitan and Hamann, Ute and Huo, Dezheng and Kwong, Ava and Olah, Edith and Olopade, Olufunmilayo I. and Solano, Angela R. and Teo, Soo-Hwang and Thomassen, Mads and Weitzel, Jeffrey N. and Chan, T. L. and Couch, Fergus J. and Goldgar, David E. and Kruse, Torben A. and Palmero, Edenir Inez and Park, Sue Kyung and Torres, Diana and van Rensburg, Elizabeth J. and McGuffog, Lesley and Parsons, Michael T. and Leslie, Goska and Aalfs, Cora M. and Abugattas, Julio and Adlard, Julian and Agata, Simona and Aittomaki, Kristiina and Andrews, Lesley and Andrulis, Irene L. and Arason, Adalgeir and Arnold, Norbert and Arun, Banu K. and Asseryanis, Ella and Auerbach, Leo and Azzollini, Jacopo and Balmana, Judith and Barile, Monica and Barkardottir, Rosa B. and Barrowdale, Daniel and Benitez, Javier and Berger, Andreas and Berger, Raanan and Blanco, Amie M. and Blazer, Kathleen R. and Blok, Marinus J. and Bonadona, Valerie and Bonanni, Bernardo and Bradbury, Angela R. and Brewer, Carole and Buecher, Bruno and Buys, Saundra S. and Caldes, Trinidad and Caliebe, Almuth and Caligo, Maria A. and Campbell, Ian and Caputo, Sandrine M. and Chiquette, Jocelyne and Chung, Wendy K. and Claes, Kathleen B. M. and Collee, J. Margriet and Cook, Jackie and Davidson, Rosemarie and de la Hoya, Miguel and De Leeneer, Kim and de Pauw, Antoine and Delnatte, Capucine and Diez, Orland and Ding, Yuan Chun and Ditsch, Nina and Domchek, SusanM. and Dorfling, Cecilia M. and Velazquez, Carolina and Dworniczak, Bernd and Eason, Jacqueline and Easton, Douglas F. and Eeles, Ros and Ehrencrona, Hans and Ejlertsen, Bent and Engel, Christoph and Engert, Stefanie and Evans, D. Gareth and Faivre, Laurence and Feliubadalo, Lidia and Ferrer, Sandra Fert and Foretova, Lenka and Fowler, Jeffrey and Frost, Debra and Galvao, Henrique C. R. and Ganz, Patricia A. and Garber, Judy and Gauthier-Villars, Marion and Gehrig, Andrea and Gerdes, Anne-Marie and Gesta, Paul and Giannini, Giuseppe and Giraud, Sophie and Glendon, Gord and Godwin, Andrew K. and Greene, Mark H. and Gronwald, Jacek and Gutierrez-Barrera, Angelica and Hahnen, Eric and Hauke, Jan and Henderson, Alex and Hentschel, Julia and Hogervorst, Frans B. L. and Honisch, Ellen and Imyanitov, Evgeny N. and Isaacs, Claudine and Izatt, Louise and Izquierdo, Angel and Jakubowska, Anna and James, Paul and Janavicius, Ramunas and Jensen, Uffe Birk and John, Esther M. and Vijai, Joseph and Kaczmarek, Katarzyna and Karlan, Beth Y. and Kast, Karin and Kim, Sung-Won and Konstantopoulou, Irene and Korach, Jacob and Laitman, Yael and Lasa, Adriana and Lasset, Christine and Lazaro, Conxi and Lee, Annette and Lee, Min Hyuk and Lester, Jenny and Lesueur, Fabienne and Liljegren, Annelie and Lindor, Noralane M. and Longy, Michel and Loud, Jennifer T. and Lu, Karen H. and Lubinski, Jan and Machackova, Eva and Manoukian, Siranoush and Mari, Veronique and Martinez-Bouzas, Cristina and Matrai, Zoltan and Mebirouk, Noura and Meijers-Heijboer, Hanne E. J. and Meindl, Alfons and Mensenkamp, Arjen R. and Mickys, Ugnius and Miller, Austin and Montagna, Marco and Moysich, Kirsten B. and Mulligan, Anna Marie and Musinsky, Jacob and Neuhausen, Susan L. and Nevanlinna, Heli and Ngeow, Joanne and Nguyen, Huu Phuc and Niederacher, Dieter and Nielsen, Henriette Roed and Nielsen, Finn Cilius and Nussbaum, Robert L. and Offit, Kenneth and Ofverholm, Anna and Ong, Kai-ren and Osorio, Ana and Papi, Laura and Papp, Janos and Pasini, Barbara and Pedersen, Inge Sokilde and Peixoto, Ana and Peruga, Nina and Peterlongo, Paolo and Pohl, Esther and Pradhan, Nisha and Prajzendanc, Karolina and Prieur, Fabienne and Pujol, Pascal and Radice, Paolo and Ramus, Susan J. and Rantala, Johanna and Rashid, Muhammad Usman and Rhiem, Kerstin and Robson, Mark and Rodriguez, Gustavo C. and Rogers, Mark T. and Rudaitis, Vilius and Schmidt, Ane Y. and Schmutzler, Rita Katharina and Senter, Leigha and Shah, Payal D. and Sharma, Priyanka and Side, Lucy E. and Simard, Jacques and Singer, Christian F. and Skytte, Anne-Bine and Slavin, Thomas P. and Snape, Katie and Sobol, Hagay and Southey, Melissa and Steele, Linda and Steinemann, Doris and Sukiennicki, Grzegorz and Sutter, Christian and Szabo, Csilla I. and Tan, Yen Y. and Teixeira, Manuel R. and Terry, Mary Beth and Teule, Alex and Thomas, Abigail and Thull, Darcy L. and Tischkowitz, Marc and Tognazzo, Silvia and Toland, Amanda Ewart and Topka, Sabine and Trainer, Alison H. and Tung, Nadine and van Asperen, Christi J. and van der Hout, Annemieke H. and van der Kolk, Lizet E. and van der Luijt, Rob B. and Van Heetvelde, Mattias and Varesco, Liliana and Varon-Mateeva, Raymonda and Vega, Ana and Villarreal-Garza, Cynthia and von Wachenfeldt, Anna and Walker, Lisa and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Weber, Bernhard H. F. and Yannoukakos, Drakoulis and Yoon, Sook-Yee and Zanzottera, Cristina and Zidan, Jamal and Zorn, Kristin K. and Selkirk, Christina G. Hutten and Hulick, Peter J. and Chenevix-Trench, Georgia and Spurdle, Amanda B. and Antoniou, Antonis C. and Nathanson, Katherine L. (2018) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39 (5). pp. 593-620. ISSN 1059-7794, 1098-1004

Kuechler, Alma and Czeschik, Johanna Christina and Graf, Elisabeth and Grasshoff, Ute and Hueffmeier, Ulrike and Busa, Tiffany and Beck-Woedl, Stefanie and Faivre, Laurence and Riviere, Jean-Baptiste and Bader, Ingrid and Koch, Johannes and Reis, Andre and Hehr, Ute and Rittinger, Olaf and Sperl, Wolfgang and Haack, Tobias B. and Wieland, Thomas and Engels, Hartmut and Prokisch, Holger and Strom, Tim M. and Luedecke, Hermann-Josef and Wieczorek, Dagmar (2017) Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. EUROPEAN JOURNAL OF HUMAN GENETICS, 25 (2). pp. 183-191. ISSN 1018-4813, 1476-5438

Ramus, Susan J. and Antoniou, Antonis C. and Kuchenbaecker, Karoline B. and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Sinilnikova, Olga M. and Healey, Sue and Barrowdale, Daniel and Lee, Andrew and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A. and Jensen, Uffe Birk and Skytte, Anne-Bine and Caligo, Maria A. and Liljegren, Annelie and Lindblom, Annika and Olsson, Hakan and Kristoffersson, Ulf and Stenmark-Askmalm, Marie and Melin, Beatrice and Domchek, Susan M. and Nathanson, Katherine L. and Rebbeck, Timothy R. and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Zlowocka, Elzbieta and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Toloczko-Grabarek, Aleksandra and Osorio, Ana and Benitez, Javier and Duran, Mercedes and Tejada, Maria-Isabel and Hamann, Ute and Rookus, Matti and van Leeuwen, Flora E. and Aalfs, Cora M. and Meijers-Heijboer, Hanne E. J. and Van Asperen, Christi J. and Van Roozendaal, K. E. P. and Hoogerbrugge, Nicoline and Collee, J. Margriet and Kriege, Mieke and van der Luijt, Rob B. and Peock, Susan and Frost, Debra and Ellis, Steve D. and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Jacobs, Chris and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and Cook, Jackie and Paterson, Joan and Douglas, Fiona and Brewer, Carole and Hodgson, Shirley and Morrison, Patrick J. and Walker, Lisa and Porteous, Mary E. and Kennedy, M. John and Pathak, Harsh and Godwin, Andrew K. and Stoppa-Lyonnet, Dominique and Caux-Moncoutier, Virginie and de Pauw, Antoine and Gauthier-Villars, Marion and Mazoyer, Sylvie and Leone, Melanie and Calender, Alain and Lasset, Christine and Bonadona, Valerie and Hardouin, Agnes and Berthet, Pascaline and Bignon, Yves-Jean and Uhrhammer, Nancy and Faivre, Laurence and Loustalot, Catherine and Buys, Saundra and Daly, Mary and Miron, Alex and Terry, Mary Beth and Chung, Wendy K. and John, Esther M. and Southey, Melissa and Goldgar, David and Singer, Christian F. and Tea, Muy-Kheng and Pfeiler, Georg and Fink-Retter, Anneliese and Hansen, Thomas V. O. and Ejlertsen, Bent and Johannsson, Oskar Th. and Offit, Kenneth and Kirchhoff, Tomas and Gaudet, Mia M. and Vijai, Joseph and Robson, Mark and Piedmonte, Marion and Phillips, Kelly-Anne and Van Le, Linda and Hoffman, James S. and Toland, Amanda Ewart and Montagna, Marco and Tognazzo, Silvia and Imyanitov, Evgeny and Isaacs, Claudine and Janavicius, Ramunas and Lazaro, Conxi and Blanco, Ignacio and Tornero, Eva and Navarro, Matilde and Moysich, Kirsten B. and Karlan, Beth Y. and Gross, Jenny and Olah, Edith and Vaszko, Tibor and Teo, Soo-Hwang and Ganz, Patricia A. and Beattie, Mary S. and Dorfling, Cecelia M. and van Rensburg, Elizabeth J. and Diez, Orland and Kwong, Ava and Schmutzler, Rita K. and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Heidemann, Simone and Niederacher, Dieter and Preisler-Adams, Sabine and Gadzicki, Dorotehea and Varon-Mateeva, Raymonda and Deissler, Helmut and Gehrig, Andrea and Sutter, Christian and Kast, Karin and Fiebig, Britta and Schaefer, Dieter and Caldes, Trinidad and de la Hoya, Miguel and Nevanlinna, Heli and Aittomaki, Kristiina and Plante, Marie and Spurdle, Amanda B. and Neuhausen, Susan L. and Ding, Yuan Chun and Wang, Xianshu and Lindor, Noralane and Fredericksen, Zachary and Pankratz, V. Shane and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Bonanni, Bernardo and Bernard, Loris and Dolcetti, Riccardo and Papi, Laura and Ottini, Laura and Radice, Paolo and Greene, Mark H. and Mai, Phuong L. and Andrulis, Irene L. and Glendon, Gord and Ozcelik, Hilmi and Pharoah, Paul D. P. and Gayther, Simon A. and Simard, Jacques and Easton, Douglas F. and Couch, Fergus J. and Chenevix-Trench, Georgia (2012) Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers. HUMAN MUTATION, 33 (4). pp. 690-702. ISSN 1059-7794, 1098-1004

Ramus, Susan J. and Kartsonaki, Christiana and Gayther, Simon A. and Pharoah, Paul D. P. and Sinilnikova, Olga M. and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Healey, Sue and Couch, Fergus J. and Wang, Xianshu and Fredericksen, Zachary and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Roversi, Gaia and Barile, Monica and Viel, Alessandra and Allavena, Anna and Ottini, Laura and Papi, Laura and Gismondi, Viviana and Capra, Fabio and Radice, Paolo and Greene, Mark H. and Mai, Phuong L. and Andrulis, Irene L. and Glendon, Gord and Ozcelik, Hilmi and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A. and Cruger, Dorthe and Jensen, Uffe Birk and Caligo, Maria Adelaide and Olsson, Hakan and Kristoffersson, Ulf and Lindblom, Annika and Arver, Brita and Karlsson, Per and Askmalm, Marie Stenmark and Borg, Ake and Neuhausen, Susan L. and Ding, Yuan Chun and Nathanson, Katherine L. and Domchek, Susan M. and Jakubowska, Anna and Lubinski, Jan and Huzarski, Tomasz and Byrski, Tomasz and Gronwald, Jacek and Gorski, Bohdan and Cybulski, Cezary and Debniak, Tadeusz and Osorio, Ana and Duran, Mercedes and Tejada, Maria-Isabel and Benitez, Javier and Hamann, Ute and Rookus, Matti A. and Verhoef, Senno and Tilanus-Linthorst, Madeleine A. and Vreeswijk, Maaike P. and Bodmer, Danielle and Ausems, Margreet G. E. M. and van Os, Theo A. and Asperen, Christi J. and Blok, Marinus J. and Meijers-Heijboer, Hanne E. J. and Peock, Susan and Cook, Margaret and Oliver, Clare and Frost, Debra and Dunning, Alison M. and Evans, D. Gareth and Eeles, Ros and Pichert, Gabriella and Cole, Trevor and Hodgson, Shirley and Brewer, Carole and Morrison, Patrick J. and Porteous, Mary and Kennedy, M. John and Rogers, Mark T. and Side, Lucy E. and Donaldson, Alan and Gregory, Helen and Godwin, Andrew and Stoppa-Lyonnet, Dominique and Moncoutier, Virginie and Castera, Laurent and Mazoyer, Sylvie and Barjhoux, Laure and Bonadona, Valerie and Leroux, Dominique and Faivre, Laurence and Lidereau, Rosette and Nogues, Catherine and Bignon, Yves-Jean and Prieur, Fabienne and Collonge-Rame, Marie-Agnes and Venat-Bouvet, Laurence and Fert-Ferrer, Sandra and Miron, Alex and Buys, Saundra S. and Hopper, John L. and Daly, Mary B. and John, Esther M. and Terry, Mary Beth and Goldgar, David and Hansen, Thomas V. O. and Jonson, Lars and Ejlertsen, Bent and Agnarsson, Bjarni A. and Offit, Kenneth and Kirchhoff, Tomas and Vijai, Joseph and Dutra-Clarke, Ana V. C. and Przybylo, Jennifer A. and Montagna, Marco and Casella, Cinzia and Imyanitov, Evgeny N. and Janavicius, Ramunas and Blanco, Ignacio and Lazaro, Conxi and Moysich, Kirsten B. and Karlan, Beth Y. and Gross, Jenny and Beattie, Mary S. and Schmutzler, Rita and Wappenschmidt, Barbara and Meindl, Alfons and Ruehl, Ina and Fiebig, Britta and Sutter, Christian and Arnold, Norbert and Deissler, Helmut and Varon-Mateeva, Raymonda and Kast, Karin and Niederacher, Dieter and Gadzicki, Dorothea and Caldes, Trinidad and de la Hoya, Miguel and Nevanlinna, Heli and Aittomaeki, Kristiina and Simard, Jacques and Soucy, Penny and Spurdle, Amanda B. and Holland, Helene and Chenevix-Trench, Georgia and Easton, Douglas F. and Antoniou, Antonis C. (2011) Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103 (2). ISSN 0027-8874, 1460-2105

Delettre, Cecile and Griffoin, Jean-Michel and Kaplan, Josseline and Dollfus, Helene and Lorenz, Birgit and Faivre, Laurence and Lenaers, Guy and Belenguer, Pascale and Hamel, Christian P. (2001) Mutation spectrum and splicing variants in the OPA1 gene. HUMAN GENETICS, 109 (6). pp. 584-591. ISSN 0340-6717