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Number of items: 26.

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

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

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

Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gillian, Laurendeau, Ingrid, Grillo, Elisa, Hamel, Marie-José, Martin, Ludovic, Barbarot, Sébastien, Leheup, Bruno, Rodriguez, Diana, Lacombe, Didier, Dollfus, Hélène, Pasquier, Laurent, Isidor, Bertrand, Ferkal, Salah, Soulier, Jean, Sanson, Marc, Dieux-Coeslier, Anne, Bièche, Ivan, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Upadhyaya, Meena and Vidaud, Dominique 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human Mutation 31 (6) , E1506-E1518. 10.1002/humu.21271

Spurlock, Gillian, Jim, Hoi-Ping and Upadhyaya, Meena 2010. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle & Nerve 42 (5) , pp. 820-821. 10.1002/mus.21766

Spurlock, Gillian, Knight, Samantha, Thomas, Nicholas Stuart Tudor, Kiehl, Tim-Rasmus, Guha, Abhijit Ranjan and Upadhyaya, Meena 2010. Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. Journal of Cancer Research and Clinical Oncology 136 (12) , pp. 1869-1880. 10.1007/s00432-010-0846-3

Spurlock, Gillian, Bennett, Emma Louise, Chuzhanova, Nadia, Thomas, Nicholas Stuart Tudor, Jim, Hoi-Ping, Side, L., Davies, S., Haan, E., Kerr, Briedgeen, Huson, S. M. and Upadhyaya, Meena 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Journal of Medical Genetics 46 (7) , pp. 431-437. 10.1136/jmg.2008.065474

Upadhyaya, Meena, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Bennett, Emma, Thomas, Nicholas Stuart Tudor, Guha, Abhijit and Mautner, Victor 2009. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics 10 (3) , pp. 251-263. 10.1007/s10048-009-0178-0

Upadhyaya, Meena, Spurlock, Gillian, Monem, Bisma Qamar, Thomas, Nicholas Stuart Tudor, Friedrich, Reinhard E., Kluwe, Lan and Mautner, Victor 2008. Germline and somatic NF1 gene mutations in plexiform neurofibromas. Human Mutation 29 (8) , E112-E122. 10.1002/humu.20793

Mantripragada, Kiran Kumar, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Ferner, Rosalie E., Frayling, Ian Martin, Dumanski, Jan P., Guha, Abhijit Ranjan, Mautner, Victor and Upadhyaya, Meena 2008. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clinical Cancer Research 14 (4) , pp. 1015-1024. 10.1158/1078-0432.CCR-07-1305

Upadhyaya, Meena, Kluwe, Lan, Spurlock, Gillian, Monem, Bisma Qamar, Majounie, Elisa, Mantripragada, Kiran Kumar, Ruggieri, Martino, Chuzhanova, Nadia, Evans, D. G., Ferner, R., Thomas, Nicholas Stuart Tudor, Guha, A. and Mautner, Victor 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation 29 (1) , pp. 74-82. 10.1002/humu.20601

Stewart, H., Bowker, C., Edees, S., Smalley, S., Crocker, M., Mechan, D., Forrester, Natalie, Spurlock, Gillian and Upadhyaya, Meena 2008. Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report. American Journal of Medical Genetics Part A 146A (11) , pp. 1444-1452. 10.1002/ajmg.a.32305

Kebudi, Rejin, Tuncer, Samuray, Upadhyaya, Meena, Peksayar, Gonul, Spurlock, Gillian and Yazici, Hulya 2008. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. Pediatric Blood & Cancer 50 (3) , pp. 713-715. 10.1002/pbc.21234

Nair, S., Phillips, Aled Owain, Norton, Nadine, Spurlock, Gillian, Williams, Hywel John, Craig, Kathrine Jane, Williams, John David, Williams, Nigel Melville and Bowen, Timothy 2008. Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening. Journal of Nephology 21 (3) , pp. 400-405.

Upadhyaya, Meena, Spurlock, Gillian, Majounie, Elisa, Griffiths, Sian, Forrester, Natalie, Baser, Mike, Huson, Susan M., Evans, Gareth and Ferner, Rosalie 2006. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat 27 (7) , p. 716. 10.1002/humu.9429

Norton, Nadine, Escott-Price, Valentina, Morris, Derek W., Bray, Nicholas John, Zammit, Stanley, Williams, Nigel Melville, Williams, Hywel John, Preece, Anna Charlotte, Dwyer, Sarah, Wilkinson, Jennifer C., Spurlock, Gillian, Kirov, George, Buckland, Paul Robert, Waddington, John L., Gill, Michael, Corvin, Aiden P., Owen, Michael John and O'Donovan, Michael John 2006. Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B (1) , pp. 96-101. 10.1002/ajmg.b.30236

Williams, Nigel Melville, Preece, Anna Charlotte, Spurlock, Gillian, Norton, Nadine, Williams, Hywel John, McCreadie, Robin G, Buckland, Paul Robert, Sharkey, Val, Chowdari, Kodavali V., Zammit, Stanley, Nimgaonkar, Vishwajit, Kirov, George, Owen, Michael John and O'Donovan, Michael Conlon 2004. Support for RGS4 as a susceptibility gene for schizophrenia. Biological Psychiatry 55 (2) , pp. 192-195. 10.1016/j.biopsych.2003.11.002

Williams, Nigel Melville, Preece, Anna Charlotte, Morris, D. W., Spurlock, Gillian, Bray, Nicholas John, Stephens, Mark Keith, Norton, Nadine, Williams, Hywel John, Clement, Mathew, Dwyer, Sarah Lynne, Curran, Catherine, Wilkinson, Jennifer Camilla, Escott-Price, Valentina, Waddington, J. L., Gill, M., Corvin, A. P., Zammit, Stanley, Kirov, George, Owen, Michael John and O'Donovan, Michael Conlon 2004. Identification in two independent samples of a novel schizophrenia risk haplotype of the dystobrevin binding protein gene (DTNBP1). Archives of general psychiatry 61 (4) , pp. 336-344. 10.1001/archpsyc.61.4.336

Williams, Nigel Melville, Spurlock, Gillian, Norton, Nadine, Williams, Hywel John, Hamshere, Marian Lindsay, Krawczak, Michael, Kirov, George, Nikolov, Ivan, Georgieva, Lyudmila, Jones, S., Cardno, Alastair George, O'Donovan, Michael Conlon and Owen, Michael John 2002. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Molecular Psychiatry 7 (10) , pp. 1092-1100. 10.1038/

Anney, Richard, Rees, Mark I., Bryan, E., Spurlock, Gillian, Williams, Nigel Melville, Norton, Nadine, Williams, Hywel John, Cardno, Alastair George, Zammit, Stanley, Jones, S., Jones, G., Hoogendoorn, Bastiaan, Smith, K. J., Hamshere, Marian Lindsay, Coleman, Sharon Louise, Guy, Carol, O'Donovan, Michael Conlon, Owen, Michael John and Buckland, Paul Robert 2002. Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular psychiatry 7 (5) , pp. 493-502. 10.1038/

Williams, Nigel Melville, Bowen, Timothy, Spurlock, Gillian, Norton, Nadine, Williams, Hywel John, Hoogendoorn, Bastiaan, Owen, Michael John and O'Donovan, Michael Conlon 2002. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Molecular Psychiatry 7 (5) , pp. 508-514. 10.1038/

Austin, J., Buckland, Paul Robert, Cardno, Alastair G., Williams, Nigel Melville, Spurlock, Gillian, Hoogendoorn, Bastiaan, Zammit, Stanley, Jones, G., Sanders, R., Jones, L., McCarthy, G., Jones, S., Bray, Nicholas John, McGuffin, Peter, Owen, Michael John and O'Donovan, Michael Conlon 2000. The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia. Molecular Psychiatry 5 (5) , pp. 552-557. 10.1038/

Bowen, Timothy, Kirov, George, Gill, M., Spurlock, Gillian, Vallada, H. P., Murray, R. M., McGuffin, P., Collier, D. A., Owen, Michael John and Craddock, Nicholas John 1999. Linkage studies of bipolar disorder with chromosome 18 markers. American Journal of Medical Genetics 15 (88) , pp. 503-509. 10.1002/(SICI)1096-8628(19991015)88:5<503::AID-AJMG13>3.0.CO;2-U

Buckland, Paul Robert, Tidmarsh, Simon, Spurlock, Gillian, Kaiser, Fawad, Yates, Martin, O'Mahony, Gerald and McGuffin, Peter 1993. Amyloid precursor protein mRNA levels in the mononuclear blood cells of Alzheimer's and Down's patients. Molecular Brain Research 18 (4) , pp. 316-320. 10.1016/0169-328X(93)90095-7

O'Donovan, Michael Conlon, Buckland, Paul Robert, Spurlock, Gillian and McGuffin, Peter 1992. Bi-directional changes in the levels of messenger RNAs encoding γ-aminobutyric acidA receptor α subunits after flurazepam treatment. European Journal of Pharmacology: Molecular Pharmacology 226 (4) , pp. 335-341. 10.1016/0922-4106(92)90051-V

Chappell, S. P., Morgan, K., Lewis, M. D., Spurlock, Gillian, Foord, S. M., Scanlon, Maurice Francis, Mir, M. A. and Lewis, Malcolm James 1986. Effect of hypothalamic (Na++K+) atpase inhibitor on isolated rabbit aortic strips. Clinical Science 70 (S13) , 23P-24P.

This list was generated on Thu Aug 6 06:54:29 2020 BST.