ORCA
Online Research @ Cardiff
Browse by Current Cardiff authors
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Number of items: 14.
Short, Emma, Thomas, Laura E., Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter, Mort, Matthew, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R.
2020.
APC transcription studies and molecular diagnosis of familial adenomatous polyposis.
European Journal of Human Genetics
28
(1)
, pp. 118-121.
10.1038/s41431-019-0486-2
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| Hurley, Joanna J., Thomas, Laura E., Walton, Sarah-Jane, Thomas-Gibson, Siwan, Haycock, Adam, Suzuki, Noriko, Mort, Matthew, Williams, Geraint, Morgan, Meleri, Clark, Susan K., Sampson, Julian R. and Dolwani, Sunil 2018. The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. Gastrointestinal Endoscopy 88 (4) , pp. 665-673. 10.1016/j.gie.2018.04.2347 |
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| Tye, Charlotte, Thomas, Laura E., Sampson, Julian R., Lewis, Juli, O'Callaghan, Finbar, Yates, John R.W. and Bolton, Patrick F. 2018. Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open 3 (2) , pp. 276-280. 10.1002/epi4.12111 |
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| Thomas, Laura E., Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E., Mort, Matthew, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil, Williams, Geraint T., Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. 2017. Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Clinical Cancer Research 23 (21) , pp. 6721-6732. 10.1158/1078-0432.CCR-17-1269 |
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Short, Emma, Thomas, Laura E., Hurley, Joanna, Jose, Sian and Sampson, Julian Roy
2015.
Inherited predisposition to colorectal cancer: towards a more complete picture.
Journal of Medical Genetics
52
, pp. 791-796.
10.1136/jmedgenet-2015-103298
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| Rad, Ellie, Dodd, Kayleigh M., Thomas, Laura E., Upadhyaya, Meena and Tee, Andrew 2015. STAT3 and HIF1 signaling drives oncogenic cellular phenotypes in malignant peripheral nerve sheath tumors. Molecular Cancer Research 13 (7) , p. 1149. 10.1158/1541-7786.MCR-14-0182 |
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Thomas, Laura E., Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil and Upadhyaya, Meena
2015.
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.
Human Genomics
9
(1)
, 3.
10.1186/s40246-015-0025-3
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| Thomas, Laura, Richards, Mark, Mort, Matthew Edwin, Dunlop, Elaine A., Cooper, David Neil and Upadhyaya, Meena 2012. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Human Mutation 33 (12) , pp. 1687-1696. 10.1002/humu.22162 |
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| Thomas, Laura, Mautner, Victor-Felix, Cooper, David Neil and Upadhyaya, Meena 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6 , 18. 10.1186/1479-7364-6-18 |
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| Upadhyaya, Meena, Spurlock, Gillian, Thomas, Laura, Thomas, Nicholas Stuart Tudor, Richards, Mark, Mautner, Viktor-Felix, Cooper, David Neil, Guha, Abhijit and Yan, Jim 2012. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis. Human Mutation 33 (4) , pp. 763-776. 10.1002/humu.22044 |
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| Thomas, Laura, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil and Upadhyaya, Meena 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20 (4) , pp. 411-419. 10.1038/ejhg.2011.207 |
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| Laycock-Van spyk, Sebastian, Jim, H. P., Thomas, Laura, Spurlock, Gillian, Fares, L., Palmer-Smith, S., Kini, U., Saggar, A., Patton, M., Mautner, V., Pilz, Daniela T. and Upadhyaya, Meena 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome [Letter]. Clinical Genetics 80 (1) , pp. 93-96. 10.1111/j.1399-0004.2010.01618.x |
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| Thomas, Laura 2011. Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1). PhD Thesis, Cardiff University. |
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| Thomas, Laura, Kluwe, Lan, Chuzhanova, Nadia, Mautner, Victor and Upadhyaya, Meena 2010. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics 11 (4) , pp. 391-400. 10.1007/s10048-010-0240-y |
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