Hasil Pencarian - Marc Tischkowitz
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Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum oleh Meghan Amson, Esther Lamoureux, Nir Hilzenrat, Marc Tischkowitz
Diterbitkan 2012-01-01Dapatkan teks lengkap
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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance. oleh Meryem Ozgencil, Julian Barwell, Marc Tischkowitz, Louise Izatt, Ian Kesterton, Michael Simpson, Paul Sharpe, Paulo de Sepulveda, Edwige Voisset, Ellen Solomon
Diterbitkan 2021-01-01Dapatkan teks lengkap
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Investigating the clinical, pathological and molecular profile of oncocytic adrenocortical neoplasms: a case series and literature review oleh Eleanor Fewings, Serena Khoo Sert Kim, Alexey Larionov, Alison Marker, Olivier Giger, Ashley Shaw, Graeme R Clark, Vasilis Kosmoliaptsis, Benjamin G Challis, Marc Tischkowitz, Ruth T Casey
Diterbitkan 2023-01-01Dapatkan teks lengkap
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Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study. oleh Stephanie Archer, Chantal Babb de Villiers, Fiona Scheibl, Tim Carver, Simon Hartley, Andrew Lee, Alex P Cunningham, Douglas F Easton, Jennifer G McIntosh, Jon Emery, Marc Tischkowitz, Antonis C Antoniou, Fiona M Walter
Diterbitkan 2020-01-01Dapatkan teks lengkap
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP oleh Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick
Diterbitkan 2019-05-01Dapatkan teks lengkap
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Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol oleh Miriam Dixon-Zegeye, Rachel Shaw, Linda Collins, Kendra Perez-Smith, Alexander Ooms, Maggie Qiao, Pan Pantziarka, Louise Izatt, Marc Tischkowitz, Rachel E. Harrison, Angela George, Emma R. Woodward, Simon Lord, Lara Hawkes, D. Gareth Evans, James Franklin, Helen Hanson, Sarah P. Blagden
Diterbitkan 2024-02-01Dapatkan teks lengkap
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A case-control study of the joint effect of reproductive factors and radiation treatment for first breast cancer and risk of contralateral breast cancer in the WECARE study oleh Jennifer D. Brooks, John D. Boice, Jr., Roy E. Shore, Anne S. Reiner, Susan A. Smith, Leslie Bernstein, Julia A. Knight, Charles F. Lynch, Esther M. John, Kathleen E. Malone, Lene Mellemkjaer, Rikke Langballe, Xiaolin Liang, Meghan Woods, Marc Tischkowitz, Patrick Concannon, Daniel O. Stram, Jonine L. Bernstein
Diterbitkan 2020-12-01Dapatkan teks lengkap
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Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population oleh Anne S. Reiner, Charles F. Lynch, Julia S. Sisti, Esther M. John, Jennifer D. Brooks, Leslie Bernstein, Julia A. Knight, Li Hsu, Patrick Concannon, Lene Mellemkjær, Marc Tischkowitz, Robert W. Haile, Ronglai Shen, Kathleen E. Malone, Meghan Woods, Xiaolin Liang, Monica Morrow, Jonine L. Bernstein, on behalf of WECARE Study Collaborative Group
Diterbitkan 2017-07-01Dapatkan teks lengkap
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P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel oleh Megan Holdren, Marcy Richardson, Deborah Ritter, Colin Young, Terra Brannan, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William Foulkes, Alvaro Monteiro, Sarah Brnich, Melissa Cline, Amanda Spurdle, Miguel de la Hoya, Fergus Couch
Diterbitkan 2023-01-01Dapatkan teks lengkap
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Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort studyResearch in context oleh Isaac Allen, Hend Hassan, Walburga Yvonne Joko-Fru, Catherine Huntley, Lucy Loong, Tameera Rahman, Bethany Torr, Andrew Bacon, Craig Knott, Sophie Jose, Sally Vernon, Margreet Lüchtenborg, Joanna Pethick, Katrina Lavelle, Fiona McRonald, Diana Eccles, Eva J.A Morris, Steven Hardy, Clare Turnbull, Marc Tischkowitz, Paul Pharoah, Antonis C. Antoniou
Diterbitkan 2024-05-01Dapatkan teks lengkap
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Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility oleh Shadi Basyuni, Laura Heskin, Andrea Degasperi, Daniella Black, Gene C. C. Koh, Lucia Chmelova, Giuseppe Rinaldi, Steven Bell, Louise Grybowicz, Greg Elgar, Yasin Memari, Pauline Robbe, Zoya Kingsbury, Carlos Caldas, Jean Abraham, Anna Schuh, Louise Jones, PARTNER Trial Group, Personalised Breast Cancer Program Group, Marc Tischkowitz, Matthew A. Brown, Helen R. Davies, Serena Nik-Zainal
Diterbitkan 2024-09-01Dapatkan teks lengkap
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Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts oleh Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen
Diterbitkan 2023-07-01Dapatkan teks lengkap
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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene oleh Caitlin T. Fierheller, Laure Guitton-Sert, Wejdan M. Alenezi, Timothée Revil, Kathleen K. Oros, Yuandi Gao, Karine Bedard, Suzanna L. Arcand, Corinne Serruya, Supriya Behl, Liliane Meunier, Hubert Fleury, Eleanor Fewings, Deepak N. Subramanian, Javad Nadaf, Jeffrey P. Bruce, Rachel Bell, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Jacek Majewski, Trevor J. Pugh, Marc Tischkowitz, Paul A. James, Ian G. Campbell, Celia M. T. Greenwood, Jiannis Ragoussis, Jean-Yves Masson, Patricia N. Tonin
Diterbitkan 2021-12-01Dapatkan teks lengkap
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Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium oleh Karin Kast, Esther M. John, John L. Hopper, Nadine Andrieu, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Lasset, Jean-Pierre Fricker, Pascaline Berthet, Véronique Mari, Lucie Salle, Marjanka K. Schmidt, Margreet G. E. M. Ausems, Encarnacion B. Gomez Garcia, Irma van de Beek, Marijke R. Wevers, D. Gareth Evans, Marc Tischkowitz, Fiona Lalloo, Jackie Cook, Louise Izatt, Vishakha Tripathi, Katie Snape, Hannah Musgrave, Saba Sharif, Jennie Murray, EMBRACE Collaborators, Sarah V. Colonna, Irene L. Andrulis, Mary B. Daly, Melissa C. Southey, Miguel de la Hoya, Ana Osorio, Lenka Foretova, Dita Berkova, Anne-Marie Gerdes, Edith Olah, Anna Jakubowska, Christian F. Singer, Yen Tan, Annelie Augustinsson, Johanna Rantala, Jacques Simard, Rita K. Schmutzler, Roger L. Milne, Kelly-Anne Phillips, Mary Beth Terry, David Goldgar, Flora E. van Leeuwen, Thea M. Mooij, Antonis C. Antoniou, Douglas F. Easton, Matti A. Rookus, Christoph Engel
Diterbitkan 2023-06-01Dapatkan teks lengkap
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Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers oleh Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, GENEPSO, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, EMBRACE, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, HEBON, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, kConFab Investigators, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. Van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton, on behalf of IBCCS, kConFab and BCFR
Diterbitkan 2020-02-01Dapatkan teks lengkap
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Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers oleh Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, GENEPSO, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, EMBRACE, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, HEBON, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, kConFab Investigators, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. Van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton, on behalf of IBCCS, kConFab, BCFR
Diterbitkan 2020-01-01Dapatkan teks lengkap
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PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants oleh Taru A. Muranen, Anna Morra, Sofia Khan, Daniel R. Barnes, Manjeet K. Bolla, Joe Dennis, Renske Keeman, Goska Leslie, Michael T. Parsons, Qin Wang, Thomas U. Ahearn, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Sabine Behrens, Katarzyna Bialkowska, Stig E. Bojesen, Nicola J. Camp, Jenny Chang-Claude, Kamila Czene, Peter Devilee, HEBON investigators, Susan M. Domchek, Alison M. Dunning, Christoph Engel, D. Gareth Evans, Manuela Gago-Dominguez, Montserrat García-Closas, Anne-Marie Gerdes, Gord Glendon, Pascal Guénel, Eric Hahnen, Ute Hamann, Helen Hanson, Maartje J. Hooning, Reiner Hoppe, Louise Izatt, Anna Jakubowska, Paul A. James, Vessela N. Kristensen, Fiona Lalloo, Geoffrey J. Lindeman, Arto Mannermaa, Sara Margolin, Susan L. Neuhausen, William G. Newman, Paolo Peterlongo, Kelly-Anne Phillips, Miquel Angel Pujana, Johanna Rantala, Karina Rønlund, Emmanouil Saloustros, Rita K. Schmutzler, Andreas Schneeweiss, Christian F. Singer, Maija Suvanto, Yen Yen Tan, Manuel R. Teixeira, Mads Thomassen, Marc Tischkowitz, Vishakha Tripathi, Barbara Wappenschmidt, Emily Zhao, Douglas F. Easton, Antonis C. Antoniou, Georgia Chenevix-Trench, Paul D. P. Pharoah, Marjanka K. Schmidt, Carl Blomqvist, Heli Nevanlinna
Diterbitkan 2023-05-01Dapatkan teks lengkap
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. oleh Mia M Gaudet, Karoline B Kuchenbaecker, Joseph Vijai, Robert J Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olga M Sinilnikova, Vernon S Pankratz, Xianshu Wang, Ronald C Eldridge, Daniel C Tessier, Daniel Vincent, Francois Bacot, Frans B L Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet, KConFab Investigators, Paolo Peterlongo, Rita K Schmutzler, Katherine L Nathanson, Marion Piedmonte, Christian F Singer, Mads Thomassen, Ontario Cancer Genetics Network, Thomas v O Hansen, Susan L Neuhausen, Ignacio Blanco, Mark H Greene, Judith Garber, Jeffrey N Weitzel, Irene L Andrulis, David E Goldgar, Emma D'Andrea, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, Elizabeth J van Rensburg, Adalgeir Arason, Gad Rennert, Ans M W van den Ouweland, Annemarie H van der Hout, Carolien M Kets, Cora M Aalfs, Juul T Wijnen, Margreet G E M Ausems, HEBON, EMBRACE, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte, D Gareth Evans, Chris Jacobs, Julian Adlard, Marc Tischkowitz, Mary E Porteous, Francesca Damiola, GEMO Study Collaborators, Lisa Golmard, Laure Barjhoux, Michel Longy, Muriel Belotti, Sandra Fert Ferrer, Sylvie Mazoyer, Amanda B Spurdle, Siranoush Manoukian, Monica Barile, Maurizio Genuardi, Norbert Arnold, Alfons Meindl, Christian Sutter, Barbara Wappenschmidt, Susan M Domchek, Georg Pfeiler, Eitan Friedman, Uffe Birk Jensen, Mark Robson, Sohela Shah, Conxi Lazaro, Phuong L Mai, Javier Benitez, Melissa C Southey, Marjanka K Schmidt, Peter A Fasching, Julian Peto, Manjeet K Humphreys, Qin Wang, Kyriaki Michailidou, Elinor J Sawyer, Barbara Burwinkel, Pascal Guénel, Stig E Bojesen, Roger L Milne, Hermann Brenner, Magdalena Lochmann, GENICA Network, Kristiina Aittomäki, Thilo Dörk, Sara Margolin, Arto Mannermaa, Diether Lambrechts, Jenny Chang-Claude, Paolo Radice, Graham G Giles, Christopher A Haiman, Robert Winqvist, Peter Devillee, Montserrat García-Closas, Nils Schoof, Maartje J Hooning, Angela Cox, Paul D P Pharoah, Anna Jakubowska, Nick Orr, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Per Hall, Fergus J Couch, Jacques Simard, David Altshuler, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Kenneth Offit
Diterbitkan 2013-01-01Dapatkan teks lengkap
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers oleh Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Rønlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Logan C. Walker
Diterbitkan 2022-10-01Dapatkan teks lengkap
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