Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Lara Hawkes"'
Autor:
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
Publikováno v:
Trials, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease caused by inherited or de novo germline pathogenic variants in TP53. Individuals with LFS have a 70–100% lifetime risk of developing cancer. The current standard of
Externí odkaz:
https://doaj.org/article/cf49679192c94035afcc32e77d21fae6
Autor:
Alexandra Brodey, Valentinos Kounnis, Lara Hawkes, Robin L Jones, Terri P McVeigh, Elena Cojocaru
Publikováno v:
The oncologist. 27(8)
Sporadic gastrointestinal stromal tumors (GIST) are rare tumors, with a median age at diagnosis of 60 years. Familial GISTs are very rare and typically associated with earlier onset, with an average age at diagnosis of 48 years. To date, just over 50
Autor:
Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski, Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma, Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Hamdy, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles, Lisa Adams, Julian Adlard, Rosa Alfonso, Saira Ali, Angela Andrew, Luís Araújo, Nazya Azam, Darran Ball, Queenstone Barker, Alon Basevitch, Barbara Benton, Cheryl Berlin, Nicola Bermingham, Leah Biller, Angela Bloss, Matilda Bradford, Nicola Bradshaw, Amy Branson, Charles Brendler, Maria Brennan, Barbara Bulman, Lucy Burgess, Declan Cahill, Alice Callard, Nuria Calvo Verges, Marta Cardoso, Vanda Carter, Mario Catanzaro, Anthony Chamberlain, Cyril Chapman, Michael Chong, Caroline Clark, Virginia Clowes, Lyn Cogley, Trevor Cole, Cecilia Compton, Tom Conner, Sandra Cookson, Philip Cornford, Philandra Costello, Laura Coulier, Michaela Davies, Christopher Dechet, Bianca DeSouza, Gemma Devlin, Fiona Douglas, Emma Douglas, Darshna Dudakia, Alexis Duncan, Natalie Ellery, Sarah Everest, Sue Freemantle, Mark Frydenberg, Debbie Fuller, Camila Gabriel, Madeline Gale, Lynda Garcia, Simona Gay, Elena Genova, Angela George, Demetra Georgiou, Alexandra Gisbert, Margaret Gleeson, Wayne Glover, Vincent Gnanapragasam, Sally Goff, David Goldgar, Nuno Gonçalves, Selina Goodman, Jennifer Gorrie, Hannah Gott, Anna Grant, Catherine Gray, Julie Griffiths, Karin Gupwell, Jana Gurasashvili, Eldbjørg Hanslien, Sigurdis Haraldsdottir, Rachel Hart, Catherine Hartigan, Lara Hawkes, Tricia Heaton, Alex Henderson, Rui Henrique, Kathrine Hilario, Kathryn Hill, Peter Hulick, Clare Hunt, Melanie Hutchings, Rita Ibitoye, Thomas Inglehearn, Joanna Ireland, Farah Islam, Siti Ismail, Chris Jacobs, Denzil James, Sharon Jenkins, Irene Jobson, Anne Johnstone, Oliver Jones, Sagi Josefsberg Ben-Yehoshua, Beckie Kaemba, Karen Kaul, Zoe Kemp, Netty Kinsella, Margaret Klehm, Roger Kockelbergh, Kelly Kohut, Monika Kosicka-Slawinska, Anjana Kulkarni, Pardeep Kumar, Jimmy Lam, Mandy LeButt, Dan Leibovici, Ramona Lim, Lauren Limb, Claire Lomas, Mark Longmuir, Consol López, Tiziana Magnani, Sofia Maia, Jessica Maiden, Alison Male, Merrie Manalo, Phoebe Martin, Donna McBride, Michael McGuire, Romayne McMahon, Claire McNally, Terri McVeigh, Ehud Melzer, Mark Mencias, Catherine Mercer, Gillian Mitchell, Josefina Mora, Catherine Morton, Cathryn Moss, Morgan Murphy, Declan Murphy, Shumi Mzazi, Maria Nadolski, Anna Newlin, Pedro Nogueira, Rachael O'Keefe, Karen O'Toole, Shona O'Connell, Chris Ogden, Linda Okoth, Jorge Oliveira, Edgar Paez, Joan Palou, Linda Park, Nafisa Patel, João Paulo Souto, Allison Pearce, Ana Peixoto, Kimberley Perez, Lara Petelin, Gabriella Pichert, Charlotte Poile, Alison Potter, Nadia Preitner, Helen Purnell, Ellen Quinn, Paolo Radice, Brigette Rankin, Katie Rees, Caroline Renton, Kate Richardson, Peter Risby, Jason Rogers, Maggie Ruderman, April Ruiz, Anaar Sajoo, Natale Salvatore, Victoria Sands, Francesco Sanguedolce, Ayisha Sattar, Kathryn Saunders, Lyn Schofield, Rodney Scott, Anne Searle, Ravinder Sehra, Christina Selkirk, Kylie Shackleton, Sue Shanley, Adam Shaw, Daniel Shevrin, Hannah Shipman, Zahirah Sidat, Kas Siguake, Kate Simon, Courtney Smyth, Lesley Snadden, Nita Solanky, Joyce Solomons, Margherita Sorrentino, Barbara Stayner, Robert Stephenson, Elena Stoffel, Maggie Thomas, Alan Thompson, Lizzie Tidey, Marc Tischkowitz, Audrey Torokwa, Sharron Townshend, Katy Treherne, Karen Tricker, Quoc-Dien Trinh, Vishakha Tripathi, Clare Turnbull, Riccardo Valdagni, Nicholas Van As, Vickie Venne, Lizzie Verdon, Marco Vitellaro, Kristen Vogel, Lisa Walker, Amy Watford, Cathy Watt, Ilana Weintroub, Shelly Weiss, Scott Weissman, Michelle Weston, Jennifer Wiggins, Gillian Wise, Christopher Woodhouse, Pembe Yesildag, Alice Youngs, Matthew Yurgelun, Fabiana Zollo
Publikováno v:
Bancroft, EK, Page, EC, Brook, MN, Thomas, S, Taylor, N, Pope, J, McHugh, J, Jones, AB, Karlsson, Q, Merson, S, Ong, KR, Hoffman, J, Huber, C, Maehle, L, Eeles, RA & Evans, D G 2021, ' A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. ', The Lancet. Oncology, vol. 22, no. 11, pp. 1618-1631 . https://doi.org/10.1016/S1470-2045(21)00522-2
The Lancet. Oncology, 22(11), 1618-1631. Lancet Publishing Group
LANCET ONCOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
The Lancet. Oncology
The Lancet. Oncology, 22(11), 1618-1631. Lancet Publishing Group
LANCET ONCOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
The Lancet. Oncology
Funder: Victorian Cancer Agency
Funder: NIHR Manchester Biomedical Research Centre
Funder: Cancer Research UK
Funder: Cancer Council Tasmania
Funder: Instituto de Salud Carlos III
Funder: Cancer Australia
Funder: NIHR Ox
Funder: NIHR Manchester Biomedical Research Centre
Funder: Cancer Research UK
Funder: Cancer Council Tasmania
Funder: Instituto de Salud Carlos III
Funder: Cancer Australia
Funder: NIHR Ox
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cfb04c18b3df43fe6648bcca6209b5
https://doi.org/10.1016/S1470-2045(21)00522-2
https://doi.org/10.1016/S1470-2045(21)00522-2
Autor:
Anand Velusamy, Angela F. Brady, Joseph Carlow, Huw Dorkins, Rebecca Igbokwe, Benjamin Whitelaw, Teng-Teng Chung, Rachel Harrison, Fiona Lalloo, Paul Brennan, Louise Izatt, Schaida Schirwani, Alan Kelsall, Barbara McGowan, Sophie T Williams, Rosemarie Davidson, Paul V. Carroll, Nicola Tufton, Patrick J. Morrison, Soo-Mi Park, Christopher Bowles, John Newell-Price, Julian Adlard, Monika Kosicka-Slawinska, Eamonn R. Maher, Richard M. Martin, Lara Hawkes, Rebecca Dyer, Scott Akker, Rupert Obholzer, Florian Wernig, Tricia Tan, Ruth T Casey, Prodromos Chatzikyriakou, Gemma White, Anna L. Mitchell, Mary Porteous
Publikováno v:
Clinical endocrinologyREFERENCES. 96(4)
Objective Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients wi
Autor:
Marie-Christine Nougues, Ddd Study, Yoshimi Sogawa, Juliette Piard, Christophe Philippe, John Taylor, Delphine Héron, Jenny C. Taylor, Romina Romaniello, Mathieu Milh, Pradeep Vasudevan, Oana Tarta Arsene, Usha Kini, Tiffany Busa, Debbie Shears, Mélanie Fradin, Diana Johnson, Yline Capri, Lara Hawkes, Myrthe van den Born, Gabriela E. Jones, Elise Brischoux-Boucher, Alistair T. Pagnamenta, Agathe Roubertie, Cyril Mignot, Helen V. Firth, Caroline Nava, Laurent Villard, Renato Borgatti, Marie-Ange Nguyen-Morel, Michel Koenig
Publikováno v:
Genetics in Medicine. 21:1-5
Autor:
Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C. Collins, Konstantin Popadin, Camille S. Bonnet, Giuliana Giannuzzi, Anne M. Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond, Christina Fagerberg, Charlotte Brasch Andersen, Martine Doco-Fenzy, Marie-Ange Delrue, Laurence Faivre, Benoit Arveiler, David Geneviève, Anouck Schneider, Marion Gerard, Joris Andrieux, Salima El Chehadeh, Elise Schaefer, Christel Depienne, Mieke Van Haelst, Eva H. Brilstra, Ellen Van Binsbergen, Jeske van Harssel, Lars T. van der Veken, James F. Gusella, Yiping Shen, Elyse Mitchell, Usha Kini, Lara Hawkes, Carolyn Campbell, Florence Niel Butschi, Marie-Claude Addor, Jacques S. Beckmann
Publikováno v:
American Journal of Human Genetics, 101(4), 564. Cell Press
16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American Journal of Human Genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
Loviglio, M N, Arbogast, T, Jønch, A E, Collins, S C, Popadin, K, Bonnet, C S, Giannuzzi, G, Maillard, A M, Jacquemont, S & 16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American journal of human genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
American Journal of Human Genetics
American Journal of Human Genetics, 2017, 101, pp.564-577. ⟨10.1016/j.ajhg.2017.08.016⟩
American journal of human genetics, 101(4), 564-577. Cell Press
16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American Journal of Human Genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
Loviglio, M N, Arbogast, T, Jønch, A E, Collins, S C, Popadin, K, Bonnet, C S, Giannuzzi, G, Maillard, A M, Jacquemont, S & 16p11.2 Consortium 2017, ' The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs ', American journal of human genetics, vol. 101, no. 4, pp. 564-577 . https://doi.org/10.1016/j.ajhg.2017.08.016
American Journal of Human Genetics
American Journal of Human Genetics, 2017, 101, pp.564-577. ⟨10.1016/j.ajhg.2017.08.016⟩
American journal of human genetics, 101(4), 564-577. Cell Press
International audience; Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebaf471f9fd4279d6c31620bc28af05e
https://dspace.library.uu.nl/handle/1874/362409
https://dspace.library.uu.nl/handle/1874/362409
Autor:
Jenny C. Taylor, Delphine Héron, Yline Capri, Lara Hawkes, Michel Koenig, Cyril Mignot, Myrthe van den Born, Usha Kini, Gabriela E. Jones, John Taylor, Renato Borgatti, Juliette Piard, Laurent Villard, Marie-Ange Nguyen-Morel, Romina Romaniello, Debbie Shears, Yoshimi Sogawa, Mélanie Fradin, Pradeep Vasudevan, Caroline Nava, Agathe Roubertie, Helen V. Firth, Christophe Philippe, Elise Brischoux-Boucher, Diana Johnson, Tiffany Busa, Mathieu Milh, Oana Tarta Arsene, Alistair T. Pagnamenta, Marie-Christine Nougues
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Genetics in Medicine, 21(6), 1308-1318. Lippincott Williams & Wilkins
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Genetics in Medicine, 21(6), 1308-1318. Lippincott Williams & Wilkins
IF 9.937 (2017); International audience; PurposeGermline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e99ebb1668d8d2dff841e28924a0fd7
https://amu.hal.science/hal-01932796
https://amu.hal.science/hal-01932796
Autor:
Sabrina Talukdar, A. Kulkarni, Helen Hanson, Dominic J. McMullan, Lara Hawkes, Clare Turnbull, Joo Wook Ahn, Emma R. Woodward, Angela F. Brady
Publikováno v:
Journal of medical genetics. 56(11)
Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities. Identification of a structural aberration (SA) involving a c
Autor:
Usha Kini, Lara Hawkes
Publikováno v:
Clinical dysmorphology. 24(2)