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More Than Skin Deep: [Dr. D. Martin Carter]
Rockefeller University Research Profiles are a series of scientific profiles that were published quarterly, from 1980-1990, by the Rockefeller University. Each issue features the research and achievements of an individual...
The ubiquitin family meets the Fanconi anemia proteins.
Fanconi anaemia (FA) is a hereditary disorder characterized by bone marrow failure, developmental defects, predisposition to cancer and chromosomal abnormalities. FA is caused by biallelic mutations that inactivate genes...
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Two truncating variants in FANCC and breast cancer risk.
Thilo Dörk, Paolo Peterlongo, Arto Mannermaa, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Laura E Beane Freeman, Matthias W Beckmann, Alicia Beeghly-Fadiel, Sabine Behrens, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Federico Canzian, Tsun L Chan, Jenny Chang-Claude, Stephen J Chanock, Ji-Yeob Choi, Hans Christiansen, Christine L Clarke, Fergus J Couch, Kamila Czene, Mary B Daly, Isabel dos-Santos-Silva, Miriam Dwek, Diana M Eccles, Arif B Ekici, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Chi Gao, Susan M Gapstur, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Mark S Goldberg, David E Goldgar, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Mikael Hartman, Jan Hauke, Alexander Hein, Peter Hillemanns, Frans BL Hogervorst, Maartje J Hooning, John L Hopper, Tony Howell, Dezheng Huo, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M John, Audrey Jung, Rudolf Kaaks, Daehee Kang, Pooja Middha Kapoor, Elza Khusnutdinova, Sung-Won Kim, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Ava Kwong, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Sara Lindström, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Jan Lubiński, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Elena Martinez, Keitaro Matsuo, Dimitris Mavroudis, Alfons Meindl, Usha Menon, Roger L Milne, Nur Aishah Mohd Taib, Kenneth Muir, Anna Marie Mulligan, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, William G Newman, Kenneth Offit, Olufunmilayo I Olopade, Andrew F Olshan, Janet E Olson, Håkan Olsson, Sue K Park, Tjoung-Won Park-Simon, Julian Peto, Dijana Plaseska-Karanfilska, Esther Pohl-Rescigno, Nadege Presneau, Brigitte Rack, Paolo Radice, Muhammad U Rashid, Gad Rennert, Hedy S Rennert, Atocha Romero, Matthias Ruebner, Emmanouil Saloustros, Marjanka K Schmidt, Rita K Schmutzler, Michael O Schneider, Minouk J Schoemaker, Christopher Scott, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Susan Slager, Snezhana Smichkoska, Melissa C Southey, John J Spinelli, Jennifer Stone, Harald Surowy, Anthony J Swerdlow, Rulla M Tamimi, William J Tapper, Soo H Teo, Mary Beth Terry, Amanda E Toland, Rob AEM Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A Troester, Thérèse Truong, Shoichiro Tsugane, Michael Untch, Celine M Vachon, Ans MW van den Ouweland, Elke M van Veen, Joseph Vijai, Camilla Wendt, Alicja Wolk, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, ABCTB Investigators, NBCS Collaborators, Alison M Dunning, Paul DP Pharoah, Detlev Schindler, Peter Devilee, Douglas F Easton
Sep 09, 2019
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk...
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Exploring the link between MORF4L1 and risk of breast cancer.
Griselda Martrat, Christopher M Maxwell, Emiko Tominaga, Montserrat Porta-de-la-Riva, Núria Bonifaci, Laia Gómez-Baldó, Massimo Bogliolo, Conxi Lázaro, Ignacio Blanco, Joan Brunet, Helena Aguilar, Juana Fernández-Rodríguez, Sheila Seal, Anthony Renwick, Nazneen Rahman, Julia Kühl, Kornelia Neveling, Detlev Schindler, María J Ramírez, María Castellà, Gonzalo Hernández, EMBRACE, Douglas F Easton, Susan Peock, Margaret Cook, Clare T Oliver, Debra Frost, Radka Platte, D Gareth Evans, Fiona Lalloo, Rosalind Eeles, Louise Izatt, Carol Chu, Rosemarie Davidson, Kai-Ren Ong, Jackie Cook, Fiona Douglas, Shirley Hodgson, Carole Brewer, Patrick J Morrison, Mary Porteous, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Gaia Roversi, Monica Barile, Alessandra Viel, Barbara Pasini, Laura Ottini, Anna Laura Putignano, Antonella Savarese, Loris Bernard, Paolo Radice, Sue Healey, Amanda Spurdle, Xiaoqing Chen, Jonathan Beesley, kConFab, Matti A Rookus, Senno Verhoef, Madeleine A Tilanus-Linthorst, Maaike P Vreeswijk, Christi J Asperen, Danielle Bodmer, Margreet Gem Ausems, Theo A van Os, Marinus J Blok, Hanne EJ Meijers-Heijboer, Frans BL Hogervorst, HEBON, David E Goldgar, Saundra Buys, Esther M John, Alexander Miron, Melissa Southey, Mary B Daly, BCFR, SWE-BRCA, Katja Harbst, Ake Borg, Johanna Rantala, Gisela Barbany-Bustinza, Hans Ehrencrona, Marie Stenmark-Askmalm, Bella Kaufman, Yael Laitman, Roni Milgrom, Eitan Friedman, Susan M Domchek, Katherine L Nathanson, Timothy R Rebbeck, Oskar Thor Johannsson, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Daniel Cuadras, Víctor Moreno, Friederike K Pientka, Reinhard Depping, Trinidad Caldés, Ana Osorio, Javier Benítez, Juan Bueren, Tuomas Heikkinen, Heli Nevanlinna, Ute Hamann, Diana Torres, Maria Adelaide Caligo, Andrew K Godwin, Evgeny N Imyanitov, Ramunas Janavicius, GEMO Study Collaborators, Olga M Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Carole Verny-Pierre, Laurent Castera, Antoine de Pauw, Yves-Jean Bignon, Nancy Uhrhammer, Jean-Philippe Peyrat, Philippe Vennin, Sandra Fert Ferrer, Marie-Agnès Collonge-Rame, Isabelle Mortemousque, Lesley McGuffog, Georgia Chenevix-Trench, Olivia M Pereira-Smith, Antonis C Antoniou, Julián Cerón, Kaoru Tominaga, Jordi Surrallés, Miguel Angel Pujana
Jun 20, 2011
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Phenotyping Genetic Diseases Using an Extension of ?-Scores for Multivariate Data
As the field of genomics matures, more complex genotypes and phenotypes are being studied. Fanconi anemia (FA), for example, is an inherited chromosome instability syndrome with a complex array of variable disease phenotypes...