检索结果 - Alison H. Trainer

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  1. 1
    Mitotic Checkpoint Inactivation Fosters Transformation in Cells Lacking the Breast Cancer Susceptibility Gene, Brca2

    Mitotic Checkpoint Inactivation Fosters Transformation in Cells Lacking the Breast Cancer Susceptibility Gene, Brca2 由 Hyun‐Sook Lee, Alison H. Trainer, Lori S. Friedman, Fiona Thistlethwaite, Martin Evans, Bruce A.J. Ponder, Ashok R. Venkitaraman

    出版 1999
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  2. 2
    A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

    A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy 由 Max Catchpool, Jay Ramchand, Melissa Martyn, David L. Hare, Paul A. James, Alison H. Trainer, Josh Knight, Ilias Goranitis

    出版 2019
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  3. 3
    Assessing and managing breast cancer risk: Clinicians' current practice and future needs

    Assessing and managing breast cancer risk: Clinicians' current practice and future needs 由 Ian Collins, Emma Steel, G. Bruce Mann, Jon Emery, Adrian Bickerstaffe, Alison H. Trainer, Phyllis Butow, Marie Pirotta, Antonis C. Antoniou, Jack Cuzick, John L. Hopper, Kelly‐Anne Phillips, Louise Keogh

    出版 2014
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  4. 4
    Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

    Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility 由 Simone M. Rowley, Lyon Mascarenhas, Lisa Devereux, Na Li, Kaushalya Amarasinghe, Magnus Zethoven, Jue Er Amanda Lee, Alexandra Lewis, James Morgan, Sharne Limb, Mary‐Anne Young, Paul A. James, Alison H. Trainer, Ian Campbell

    出版 2018
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  5. 5
    Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

    Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients 由 Ella R. Thompson, Samantha E. Boyle, Julie K. Johnson, Georgina L. Ryland, Sarah Sawyer, David Y.H. Choong, kConFab, Georgia Chenevix‐Trench, Alison H. Trainer, Geoffrey J. Lindeman, Gillian Mitchell, Paul A. James, Ian Campbell

    出版 2011
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  6. 6
    The genomic landscape of phaeochromocytoma

    The genomic landscape of phaeochromocytoma 由 Aidan Flynn, Diana E. Benn, Roderick Clifton‐Bligh, Bruce Robinson, Alison H. Trainer, Paul A. James, Annette Hogg, Kelly Waldeck, Joshy George, Jason Li, Stephen B. Fox, Anthony J. Gill, Grant A. McArthur, Rodney J. Hicks, Richard W. Tothill

    出版 2014
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  7. 7
    Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

    Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles 由 Ella R. Thompson, Maria Doyle, Georgina L. Ryland, Simone M. Rowley, David Y.H. Choong, Richard W. Tothill, Heather Thorne, Daniel R. Barnes, Jason Li, Jason Ellul, Gayle K. Philip, Yoland C. Antill, Paul A. James, Alison H. Trainer, Gillian Mitchell, Ian Campbell

    出版 2012
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  8. 8
    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... 由 Horacio Astudillo‐de la Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier, Hülya Kayserili, Flemming Skovby, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, E Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Raoul C. M. Hennekam, Ethylin Wang Jabs

    出版 2009
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  9. 9
    Bayesian approach to determining penetrance of pathogenic SDH variants

    Bayesian approach to determining penetrance of pathogenic SDH variants 由 Diana E. Benn, Ying Zhu, Katrina Andrews, Mathilda Wilding, Emma L. Duncan, Trisha Dwight, Richard W. Tothill, John Burgess, Ashley Crook, Anthony J. Gill, Rodney J. Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison H. Trainer, Katherine Tucker, Eamonn R. Maher, Michael Field, Roderick Clifton‐Bligh

    出版 2018
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  10. 10
    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity 由 Miriam Gordillo, Hugo Vega, Alison H. Trainer, Fajian Hou, Norio Sakai, Ricardo Luque, Hülya Kayserili, Seher Başaran, Flemming Skovby, Raoul C. M. Hennekam, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, Susan Chang, Edward Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Roger A. Schultz, Lisa D. McDaniel, Keiichi Ozono, Koji Inui, Hui Zou, Ethylin Wang Jabs

    出版 2008
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  11. 11
    Clinical impact of genomic testing in patients with suspected monogenic kidney disease

    Clinical impact of genomic testing in patients with suspected monogenic kidney disease 由 Kushani Jayasinghe, Zornitza Stark, Peter G. Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew F. Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathy Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily See, Andrew Talbot, Alison H. Trainer, Rigan Tytherleigh, Giulia Valente, Mathew Wallis, Louise Wardrop, Kirsty West, Susan M. White, Ella Wilkins, Andrew Mallett, Catherine Quinlan

    出版 2020
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  12. 12
    Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles

    Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles 由 Aidan Flynn, Andrew Pattison, Shiva Balachander, Emma Boehm, Blake Bowen, Trisha Dwight, Fernando J. Rossello, Oliver Hofmann, Luciano G. Martelotto, Maia Zethoven, Lawrence S. Kirschner, Tobias Else, Lauren Fishbein, Anthony J. Gill, Arthur S. Tischler, Thomas J. Giordano, Tamara Prodanov, Jane R. Noble, Roger R. Reddel, Alison H. Trainer, Hans K. Ghayee, Isabelle Bourdeau, Marianne S. Elston, Diana Ishak, Joanne Ngeow, Rodney J. Hicks, Joakim Crona, Tobias Åkerström, Peter Stålberg, Patricia L. M. Dahia, Sean M. Grimmond, Roderick Clifton‐Bligh, Karel Pacák, Richard W. Tothill

    出版 2025
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  13. 13
    Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

    Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk 由 Nick Orr, Alina Lemnrau, Rosie Cooke, Olivia Fletcher, Katarzyna Tomczyk, Michael E. Jones, Nichola Johnson, Christopher J. Lord, Costas Mitsopoulos, Marketa Zvelebil, Simon S. McDade, Gemma Buck, Christine Blancher, Alison H. Trainer, Paul A. James, Stig E. Bojesen, Susanne Bokmand, Heli Nevanlinna, Johanna Mattson, Eitan Friedman, Yael Laitman, Domenico Palli, Giovanna Masala, Ines Zanna, Laura Ottini, Giuseppe Giannini, Antoinette Hollestelle, Ans M.W. van den Ouweland, Srdjan Novaković, Mateja Krajc, Manuela Gago‐Dominguez, Jose E. Castelao, Håkan Olsson, Ingrid Hedenfalk, Douglas F. Easton, Paul D.P. Pharoah, Alison M. Dunning, D. Timothy Bishop, Susan L. Neuhausen, Linda Steele, Richard S. Houlston, Montserrat García‐Closas, Alan Ashworth, Anthony J. Swerdlow

    出版 2012
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  14. 14
    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years 由 Kushani Jayasinghe, Erik Biroš, Trudie Harris, Alasdair Wood, Rosie O’Shea, Lauren M. Hill, Lindsay Fowles, Louise Wardrop, Carolyn Shalhoub, Deirdré Hahn, Gopala K. Rangan, Lucy Kevin, Michel Tchan, Paul Snelling, Rhiannon Sandow, Madhivan Sundaram, Swasti Chaturvedi, Peter Trnka, Randall Faull, Nicola Poplawski, Vanessa Huntley, Denisse Garza, Mathew Wallis, Matthew Jose, A Leaver, Alison H. Trainer, Ella Wilkins, Sue White, Yoni Elbaum, Yael Prawer, Emma Krzesinski, Giulia Valente, Ingrid Winship, Jessica Ryan, John Whitlam, Kathy Nicholls, Kirsty West, Liz Donaldson, Lilian Johnstone, Miranda F. Lewit‐Mendes, Peter G. Kerr, Simon Bodek, Aron Chakera, Mandi MacShane, Christine Mincham, Elaine Stackpoole, Francis R Willis, Jacqueline Soraru, Nick Pachter, Bruce Bennetts, Thomas Forbes, Amali Mallawaarachchi, Catherine Quinlan, Chirag Patel, Hugh J. McCarthy, Illias Goranitis, Stephanie Best, Stephen I. Alexander, Zornitza Stark, Andrew Mallett

    出版 2024
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  15. 15
    Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families

    Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families 由 Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M. Dunning, James Redman, James A. Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen A. Pooley, Leila Dorling, Andrew Lee, Muriel A. Adank, Julian Adlard, Kristiina Aittomäki, Irene L. Andrulis, Peter Ang, Julian Barwell, Jonine L. Bernstein, Kristie Bobolis, Åke Borg, Carl Blomqvist, Kathleen Claes, Patrick Concannon, Adeline Cuggia, Julie O. Culver, Francesca Damiola, Antoine De Pauw, Orland Dı́ez, Jill S. Dolinsky, Susan M. Domchek, Christoph Engel, D. Gareth Evans, Florentia Fostira, Judy E. Garber, Lisa Golmard, Ellen L. Goode, Stephen B. Gruber, Eric Hahnen, Christopher R. Hake, Tuomas Heikkinen, Judith Hurley, Ramūnas Janavičius, Zdeněk Kleibl, Petra Kleiblová, Irene Konstantopoulou, Anders Kvist, Holly LaDuca, Ann S. G. Lee, Fabienne Lesueur, Eamonn R. Maher, Graham J. Mann, Siranoush Manoukian, Rachel McFarland, Wendy McKinnon, Alfons Meindl, Kelly Metcalfe, Nur Aishah Mohd Taib, Jukka S. Moilanen, Katherine L. Nathanson, Susan L. Neuhausen, Pei Sze Ng, Tú Nguyen‐Dumont, Sarah M. Nielsen, Florian Obermair, Kenneth Offit, Olufunmilayo I. Olopade, Laura Ottini, Judith Penkert, Katri Pylkäs, Paolo Radice, Susan J. Ramus, Vilius Rudaitis, Lucy Side, Rachel Silva‐Smith, Valentina Silvestri, Anne‐Bine Skytte, Thomas Slavin, Jana Soukupová, Carlo Tondini, Alison H. Trainer, Gary Unzeitig, Lydia Usha, Thomas van Overeem Hansen, James Whitworth, Marie Wood, Cheng Har Yip, Sook‐Yee Yoon, Amal Yussuf, George Zogopoulos, David E. Goldgar, John L. Hopper, Georgia Chenevix‐Trench, Paul D.P. Pharoah, Sophia George, Judith Balmañà, Claude Houdayer

    出版 2019
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  16. 16
    Heritable DNA methylation marks associated with susceptibility to breast cancer

    Heritable DNA methylation marks associated with susceptibility to breast cancer 由 Jihoon E. Joo, James G. Dowty, Roger L. Milne, Ee Ming Wong, Pierre‐Antoine Dugué, Dallas R. English, John L. Hopper, David E. Goldgar, Graham G. Giles, Melissa C. Southey, Adrienne Sexton, Alice Christian, Alison H. Trainer, Allan D. Spigelman, Andrew Fellows, Andrew N. Shelling, Anna de Fazio, Anneke C. Blackburn, Ashley Crook, Bettina Meiser, Briony Patterson, Christine L. Clarke, Christobel Saunders, Clare Hunt, Clare L. Scott, David J. Amor, Deborah J. Marsh, Edward Edkins, Elizabeth Salisbury, Eric Haan, Eveline Neidermayr, Finlay Macrae, Gelareh Farshid, Geoffrey J. Lindeman, Georgia Chenevix‐Trench, Graham J. Mann, Grantley Gill, Heather Thorne, Ian Campbell, Ian B. Hickie, Ingrid Winship, Jack Goldblatt, James M. Flanagan, James Kollias, Jane E. Visvader, Jennifer Stone, Jessica Taylor, Jo Burke, Jodi M. Saunus, John Forbes, Jonathan Beesley, Judy Kirk, Juliet D. French, Kathy Tucker, Kathy H. C. Wu, Kelly‐Anne Phillips, Lara Lipton, Leslie Andrews, Elizabeth Lobb, Logan C. Walker, Maira Kentwell, Amanda B. Spurdle, Margaret C. Cummings, Margaret Gleeson, Marion Harris, Mark A. Jenkins, Mary Anne Young, Martin B. Delatycki, Mathew Wallis, Matthew Burgess, Melanie A. Price, Melissa A. Brown, Michael Bogwitz, Michael Field, Michael Friedlander, Michael Gattas, Mona Saleh, Nicholas K. Hayward, Nick Pachter, Paul A. Cohen, Pascal H. G. Duijf, Paul A. James, Peter T. Simpson, Peter C.C. Fong, Phyllis Butow, Rachael Williams, Richard Kefford, Rodney J. Scott, Rosemary L. Balleine, Sarah‐Jane Dawson, Sheau Wen Lok, Shona O’Connell, Sian Greening, Sophie Nightingale, Stacey L. Edwards, Stephen B. Fox, Sue‐Anne McLachlan, Sunil R. Lakhani, Susan N. Thomas, Yoland Antill

    出版 2018
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