Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain–deficient severe combined immunodeficiency
Slatter, Mary A., MD, Angus, Brian, FRCPath, Windebank, Kevin, MD, Taylor, Alison, MSc, Meaney, Cathy, BSc, Lester, Tracey, FRCPath, Norbury, Gail, FRCPath, Hambleton, Sophie, MD, Abinun, Mario, MD, Flood, Terence J., MD, Cant, Andrew J., MD, Gennery, Andrew R., MD
Published in Journal of allergy and clinical immunology (01.02.2011)
Published in Journal of allergy and clinical immunology (01.02.2011)
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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease
Rubinsztein, David C., Leggo, Jayne, Chiano, Mathias, Dodge, Alan, Norbury, Gail, Rosser, Elisabeth, Craufurd, David
Published in Proceedings of the National Academy of Sciences - PNAS (15.04.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (15.04.1997)
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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Garrett, Alice, Callaway, Alison, Durkie, Miranda, Cubuk, Cankut, Alikian, Mary, Burghel, George J, Robinson, Rachel, Izatt, Louise, Talukdar, Sabrina, Side, Lucy, Cranston, Treena, Palmer-Smith, Sheila, Baralle, Diana, Berry, Ian R, Drummond, James, Wallace, Andrew J, Norbury, Gail, Eccles, Diana M, Ellard, Sian, Lalloo, Fiona, Evans, D Gareth, Woodward, Emma, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare
Published in Journal of medical genetics (01.12.2020)
Published in Journal of medical genetics (01.12.2020)
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Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
McVeigh, Terri Patricia, Monahan, Kevin J, Christopher, Joseph, West, Nick, Scott, Malcolm, Murray, Jennie, Hanson, Helen, Armstrong, Ruth, Beggs, Andrew, Berlin, Cheryl, Boyde, Adam, Brady, Angela, Bulmer, Jeremy, Burghel, George, Burn, John, Catherwood, Mark, Christopher, Joseph, Cleaver, Ruth, Coad, Beth, Conti, Hector, Cook, Jacqueline, Cope, Wei, Corbett, Gemma, Crosbie, Emma, Davidson, Rosemarie, DeSouza, Bianca, Donaldson, Alan, Durkie, Miranda, Eccles, Diana, Foot, Nicola, Frayling, Ian, George, Andrew, Gerrard, Gareth, Gibson, Sarah, Green, Andrew, Greville-Heygate, Stephanie, Hamilton, Sarah, Hanson, Helen, Hart, Rachel, Hodgson, Shirley, Holliday, Debbie, Hoyle, Jacqui, Jewell, Rosalyn, Kemp, Zoe, Kiely, Louise, Kiesel, Vicki, Kohut, Kelly, Kristeleit, Rebecca, Kumar, Ajith, Lalloo, Fiona, Latchford, Andrew, Lee, Natalie, Lobo, Donna, Loughrey, Maurice, MacMahon, Suzanne, Martin, Richard, Martin, Sally, McVeigh, Terri, Miedzybrodzka, Zosia, Minshall, Eleanor, Monahan, Kevin, Monje-Garcia, Laura, Morgan, Meleri, Mugalaasi, Hood, Murray, Jennie, Musgrave, Hannah, Nastali, Emily, Norbury, Gail, Ong, Kai Ren, Onyeador, Nicola, Pagan, Judith, Quigley, Kezia, Ratsma, Elizabeth, Rea, Gillian, Repana, Dimitra, Rosenthal, Adam, Scott, Malcolm, Searle, Claire, Shaw, Adam, Side, Lucy, Simon, Kate, Smith, Katherine, Solomons, Joyce, Varde, Avani, West, Nick, Wiggins, Jennifer, Wren, Dorte, Yarram-Smith, Laura
Published in Journal of medical genetics (01.07.2024)
Published in Journal of medical genetics (01.07.2024)
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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records
Loong, Lucy, Huntley, Catherine, McRonald, Fiona, Santaniello, Francesco, Pethick, Joanna, Torr, Bethany, Allen, Sophie, Tulloch, Oliver, Goel, Shilpi, Shand, Brian, Rahman, Tameera, Luchtenborg, Margreet, Garrett, Alice, Barber, Richard, Bedenham, Tina, Bourn, David, Bradshaw, Kirsty, Brooks, Claire, Bruty, Jonathan, Burghel, George J, Butler, Samantha, Buxton, Chris, Callaway, Alison, Callaway, Jonathan, Drummond, James, Durkie, Miranda, Field, Joanne, Jenkins, Lucy, McVeigh, Terri P, Mountford, Roger, Nyanhete, Rodney, Petrides, Evgenia, Robinson, Rachel, Scott, Tracy, Stinton, Victoria, Tellez, James, Wallace, Andrew J, Yarram-Smith, Laura, Sahan, Kate, Hallowell, Nina, Eccles, Diana M, Pharoah, Paul, Tischkowitz, Marc, Antoniou, Antonis C, Evans, D Gareth, Lalloo, Fiona, Norbury, Gail, Morris, Eva, Burn, John, Hardy, Steven, Turnbull, Clare
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia
Taylor, A, Martin, B, Wang, D, Patel, K, Humphries, SE, Norbury, G
Published in Clinical genetics (01.07.2009)
Published in Clinical genetics (01.07.2009)
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Carrier Frequency of a Nonsense Mutation in the Adenosine Deaminase (ADA) Gene Implies a High Incidence of ADA‐deficient Severe Combined Immunodeficiency (SCID) in Somalia and a Single, Common Haplotype Indicates Common Ancestry
Sanchez, Juan J., Monaghan, Gemma, Børsting, Claus, Norbury, Gail, Morling, Niels, Gaspar, H. Bobby
Published in Annals of human genetics (01.05.2007)
Published in Annals of human genetics (01.05.2007)
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A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100
Taylor, Alison, Bayly, Graham, Patel, Kunjan, Yarram, Laura, Williams, Maggie, Hamilton-Shield, Julian, Humphries, Steve E, Norbury, Gail
Published in Annals of clinical biochemistry (01.09.2010)
Published in Annals of clinical biochemistry (01.09.2010)
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Polymorphous lymphoproliferative disorder with Hodgkin-like features in common [gamma]-chain-deficient severe combined immunodeficiency
Slatter, Mary A, Angus, Brian, Windebank, Kevin, Taylor, Alison, Meaney, Cathy, Lester, Tracey, Norbury, Gail, Hambleton, Sophie, Abinun, Mario, Flood, Terence J, Cant, Andrew J, Gennery, Andrew R
Published in Journal of allergy and clinical immunology (01.02.2011)
Published in Journal of allergy and clinical immunology (01.02.2011)
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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
Porter, T R, Richards, F M, Houlston, R S, Evans, DGR, Jankowski, JA, Macdonald, F, Norbury, G, Payne, S J, Fisher, SA, Tomlinson, I, Maher, E R
Published in Oncogene (14.03.2002)
Published in Oncogene (14.03.2002)
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A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia
SMITH, Andrew J. P, AHMED, Fayha, NAIR, Devi, WHITTALL, Ros, WANG, Darrell, TAYLOR, Alison, NORBURY, Gail, HUMPHRIES, Steve E
Published in European journal of human genetics : EJHG (01.11.2007)
Published in European journal of human genetics : EJHG (01.11.2007)
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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
PORTER, Timothy R, RICHARDS, Frances M, MAHER, Eamonn R, HOULSTON, Richard S, EVANS, D. Gareth R, JANKOWSKI, Janusz A, MACDONALD, Fiona, NORBURY, Gail, PAYNE, Stewart J, FISHER, Samantha A, TOMLINSON, Ian
Published in Oncogene (14.03.2002)
Published in Oncogene (14.03.2002)
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Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia
Taylor, A, Tabrah, S, Wang, D, Sozen, M, Duxbury, N, Whittall, R, Humphries, SE, Norbury, G
Published in Clinical genetics (01.06.2007)
Published in Clinical genetics (01.06.2007)
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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation
McCann, Emma, Kaye, Stephen B., Newman, William, Norbury, Gail, Black, Graeme C.M., Ellis, Ian H.
Published in American journal of medical genetics. Part A (15.10.2005)
Published in American journal of medical genetics. Part A (15.10.2005)
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