Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Terri P McVeigh"'
Autor:
Rafael Grochot, Suzanne Carreira, Susana Miranda, Ines Figueiredo, Claudia Bertan, Jan Rekowski, Wei Yuan, Ana Ferreira, Ruth Riisnaes, Antje Neeb, Bora Gurel, Maria de Los Dolores Fenor de la Maza, Christina Guo, Juliet Carmichael, Daniel Westaby, Joaquin Mateo, Adam Sharp, Terri P. McVeigh, Johann De Bono
Publikováno v:
European Urology Open Science, Vol 52, Iss , Pp 72-78 (2023)
Background: Germline mutations in the ataxia telangiectasia mutated (ATM) gene occur in 0.5–1% of the overall population and are associated with tumour predisposition. The clinical and pathological features of ATM-mutated prostate cancer (PC) are p
Externí odkaz:
https://doaj.org/article/eac68c6ede4f43d4a8673b793f11158f
Autor:
Patrick W Owens, Terri Patricia McVeigh, Nicola Miller, Carole Guerin, Frederic Sebag, Denis Quill, Marcia Bell, Michael J Kerin, Aoife J Lowery
Publikováno v:
Endocrine Oncology, Vol 1, Iss 1, Pp 1-8 (2023)
Objective: FOXE1 is an intronless gene on chromosome 9 which plays a significant role in thyroid morphogenesis. Mutations in FOXE1 are associated with thyroid phenotypes including congenital hypothyroidism, thyroid dysgenesis and thyroid cancer. This
Externí odkaz:
https://doaj.org/article/1f0d12821d494707922871d55dae5ffe
Autor:
Andrew Clark, Sally Thomas, Angela Hamblin, Polly Talley, Austin Kulasekararaj, Jacob Grinfeld, Beverley Speight, Katie Snape, Terri P. McVeigh, John A. Snowden
Publikováno v:
British Journal of Haematology. 201:35-44
Autor:
Sarah Wedderburn, Terri P. McVeigh
Publikováno v:
Genetics Research, Vol 2021 (2021)
Externí odkaz:
https://doaj.org/article/03b5d13cee1e43a0859e6ba38aecf3c5
Autor:
Mark R. Openshaw, Terri P. McVeigh
Publikováno v:
Frontiers in Digital Health, Vol 2 (2020)
Improving cancer survival rates globally requires improvements in disease detection and monitoring, with the aim of improving early diagnosis and prediction of disease relapse. Traditional means of detecting and monitoring cancers rely largely on ima
Externí odkaz:
https://doaj.org/article/3159a4f523524ca996bf950e2a799522
Publikováno v:
Familial Cancer. 22:167-175
A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early recognition of patients with Lynch Syndrome. A broad search of the literature on
Autor:
Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher
Publikováno v:
Journal of Medical Genetics. 60:107-111
SDHApathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. MostSDHAPGV carriers present with an apparently sporadic tumour, b
Autor:
Peter M Ellery, Alannah Smrke, Adam N. Rosenthal, Nafisa Wilkinson, Hannah Dawson, Terri P. McVeigh
Publikováno v:
Familial Cancer. 21:363-368
PTEN is a tumour suppressor gene involved in regulating cell division. Pathogenic germline variants in PTEN predispose to benign and malignant growths of numerous organs, including of the breast. In the following report, we describe the first documen
Autor:
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
Publikováno v:
Journal of medical genetics.
Peer reviewed: True
OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS
OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS
Autor:
Khin Thway, Dirk C. Strauss, Terri P. McVeigh, Andrew J. Hayes, Cyril Fisher, Alannah Smrke, Myles Smith, Elena Cojocaru, Spyridon Gennatas, Robin L. Jones, Charlotte Benson
Publikováno v:
Familial Cancer. 21:69-74
Desmoid-type fibromatosis (DF) are locally infiltrative, non-metastasizing tumours associated with significant morbidity and mortality if located intra-abdominally, retroperitoneally or in head and neck localisation. They are mostly sporadic, due to