Browse by Divisions pre August 2011

Abdollahi, Mohammad R., Lewis, Rohan M., Gaunt, Tom R., Cumming, Debbie V.E., Rodriguez, Santiago, Rose-Zerilli, Matthew, Collins, Andrew R., Syddall, Holly E., Howell, William M., Cooper, Cyrus, Godfrey, Keith M., Cameron, Iain T. and Day, Ian N.M. (2007) Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits. Human Mutation, 28, (4), 365-373. (doi:10.1002/humu.20454).

Alharbi, Khalid K., Spanakis, Emmanuel, Tan, Karen, Smith, Matt J., Aldahmesh, Mohammed A., O'Dell, Sandra D., Sayer, Avan Aihie, Lawlor, Debbie A., Ebrahim, Shah, Davey Smith, George, O'Rahilly, Stephen, Farooqi, Sadaf, Cooper, Cyrus, Phillips, David I.W. and Day, Ian N.M. (2007) Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. Human Mutation, 28, (3), 294-302. (doi:10.1002/humu.20404).

Andrews, Allison-Lynn, Bucchieri, Fabio, Arima, Kazuhiko, Izuhara, Kenji, Holgate, Stephen T., Davies, Donna E. and Holloway, John W. (2007) Effect of IL-13 receptor α2 levels on the biological activity of IL-13 variant R110Q. Journal of Allergy and Clinical Immunology, 120, (1), 91-97. (doi:10.1016/j.jaci.2007.04.026).

Bunyan, David J., Skinner, Alison C., Ashton, Emma J., Sillibourne, Julie, Brown, Tom, Collins, Amanda L., Cross, Nicholas C.P., Harvey, John F. and Robinson, David O. (2007) Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene. Molecular Biotechnology, 35, (2), 135-140. (doi:10.1007/BF02686108).

Cawood, A.L., Ding, R., Napper, F.L., Young, R., Williams, J., Ward, M., Gudmundsen, O., Payne, S., Vic, H., Shearman, C.P., Ye, S., Gallagher, P.J., Grimble, R.F. and Calder, P.C. (2007) Long-chain n-3 fatty acids enter advanced atherosclerotic plaques and are associated with decreased inflammation and decreased inflammatory gene expression. Proceedings of the Nutrition Society, 66, 1A-13A. (doi:10.1017/S0029665107005733).

Cross, Nicholas C.P. and Reiter, Andreas (2007) BCRl-ABL-negative chronic myeloid leukaemia. In, Melo, J.V. and Goldman, John.M. (eds.) Myeloproliferative Disorders. Berlin; Heidelberg, Germany, Springer, 219-234. (Hematologic Malignancies).

Curtis, C., Grand, F.H., Kreil, S., Oscier, D.G., Hall, A.G. and Cross, N.C.P. (2007) Acquired isodisomy is common in atypical myeloproliferative disorders. Haematologica, 92, (Supplement 1), 152S-152S.

Ennis, S., Murray, A., Brightwell, G., Morton, N.E. and Jacobs, P.A. (2007) Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes. Human Mutation, 28, (12), 1216-1224. (doi:10.1002/humu.20600).

Ennis, Sarah, Goverdhan, Srini, Cree, Angela, Hoh, Josephine, Collins, Andrew and Lotery, Andrew (2007) Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region. British Journal of Ophthalmology, 91, (7), 966-970. (doi:10.1136/bjo.2007.114090).

Grand, F.H., Curtis, C., Score, J., Chase, A. and Cross, N.C.P. (2007) The platelet-derived growth factor receptor beta fuses to two distinct loci at 3p21 in imatinib responsive chronic eosinophilic leukaemia. British Journal of Haematology, 137, (s1), p.25. (doi:10.1111/j.1365-2141.2007.06557.x).

Grand, Francis H., Iqbal, Sameena, Zhang, Lingyan, Russell, Nigel H., Chase, Andrew and Cross, Nicholas C.P. (2007) A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy. Experimental Hematology, 35, (11), 1723-1727. (doi:10.1016/j.exphem.2007.07.002).

Hammond, V.N., Gerty, S.M., Sillibourne, J., Ward, D., Mattocks, C., Simmonds, P., Graham, N., Armstrong, M. and Eccles, D.M. (2007) Inherited mutations in BRCA1 are much more frequent than in BRCA2 amongst young breast cancer cases. Journal of Medical Genetics, 44, pp.S132.

Higgins, Craig D., Swerdlow, Anthony J., Schoemaker, Minouk J., Wright, Alan F., Jacobs, Patricia A. and and On behalf of the UK clinical cytogenetics group, (2007) Mortality and cancer incidence in males with Y polysomy in Britain: A cohort study. Human Genetics, 121, (6), 691-696. (doi:10.1007/s00439-007-0365-8).

Holgate, S.T., Davies, D.E., Powell, R.M., Howarth, P.H., Haitchi, H.M. and Holloway, J.W. (2007) Local genetic and environmental factors in asthma disease pathogenesis: chronicity and persistence mechanisms. European Respiratory Journal, 29, (4), 793-803. (doi:10.1183/09031936.00087506).

Holmes, C., McCulley, M., Nicoll, J.A.R., Alder, J.T., Chen, C.P.L.H. and Francis, P.T. (2007) Genetic variation in the 5-HT2A receptor and altered neocortical [H-3] ketanserin binding in Alzheimer's disease. Neuroscience Letters, 420, (1), 58-60. (doi:10.1016/j.neulet.2007.04.009).

Holt, H.B., Wild, S.H., Postle, A.D., Zhang, J., Koster, G., Umpleby, M., Shojaee-Moradie, F., Dewbury, K., Wood, P.J., Phillips, D.I. and Byrne, C.D. (2007) Cortisol clearance and associations with insulin sensitivity, body fat and fatty liver in middle-aged men. Diabetologia, 50, (5), 1024-1032. (doi:10.1007/s00125-007-0629-9).

Jenner, M.W., Leone, P.E., Walker, B.A., Johnson, D.C., Chiecchio, L., Cabanas, E.D., Dagrada, G.P., Nightingale, M., Protheroe, R.K.M., Stockley, D., Else, M., Dickens, N.J., Ross, F.M., Cross, N.C.P., Davies, F.E. and Morgan, G.J. (2007) Deletion of 16q identified by FISH is an independent adverse prognostic marker in multiple myeloma. British Journal of Haematology, 137, (Supp/1), p.1. (doi:10.1111/j.1365-2141.2007.06557.x).

Jerjes, Walid K., Taylor, Norman F., Wood, Peter J. and Cleare, Anthony J. (2007) Enhanced feedback sensitivity to prednisolone in chronic fatigue syndrome. Psychoneuroendocrinology, 32, (2), 192-198. (doi:10.1016/j.psyneuen.2006.12.005).

Jones, A.V., Bunyan, D.J. and Cross, N.C.P. (2007) No evidence for amplification of V617F JAK2 in myeloproliferative disorders. Leukemia, 21, (12), 2561-2563. (doi:10.1038/sj.leu.2404845).

Jovanovic, J.V., Score, J., Waghorn, K., Cilloni, D., Gottardi, E., Metzgeroth, G., Erben, P., Popp, H., Walz, C., Hochhaus, A., Roche-Lestienne, C., Preudhomme, C., Solomon, E., Apperley, J., Rondoni, M., Ottaviani, E., Martinelli, G., Brito-Babapulle, F., Saglio, G., Hehlmann, R., Cross, N.C., Reiter, A. and Grimwade, D. (2007) Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Blood, 109, (11), 4635-4640. (doi:10.1182/blood-2006-10-050054).

Khan, O.A., Iyengar, S., Pontefract, D.E., Rogers, V., Ohri, S.K. and Livesey, S.A. (2007) Impact of surgeon-specific data reporting on surgical training. Annals of The Royal College of Surgeons of England, 89, (8), 796-798.

Konstantinidis, A.K., Barton, S.J., Sayers, I., Yang, I.A., Lordan, J.L., Rorke, S., Clough, J.B., Holgate, S.T. and Holloway, J.W. (2007) Genetic association studies of interleukin-13 receptor alpha1 subunit gene polymorphisms in asthma and atopy. European Respiratory Journal, 30, (1), 40-47. (doi:10.1183/09031936.00025706).

Koop, Olga, Schirmacher, Anja, Nelis, Eva, Timmerman, Vincent, De Jonghe, Peter, Ringelstein, Bernd, Rasic, Vedrana M., Evrard, Philippe, Gärtner, Jutter, Claeys, Kristl G., Appenzeller, Silke, Rautenstrauss, Bernd, Huhne, Kathrin, Ramos-Arroyo, Maria A., Wörle, Helmut, Moilanen, Jukka S., Hammans, Simon and Kuhlenbäumer, Gregor (2007) Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscular Disorders, 17, (8), 624-630. (doi:10.1016/j.nmd.2007.03.012).

Kralovicova, Jana and Vorechovsky, Igor (2007) Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition. Nucleic Acids Research, 35, (19), 6399-6413. (doi:10.1093/nar/gkm680).

Kreil, S., Pfirrmann, M., Waghorn, K., Chase, A., Hehlmann, R., Reiter, A., Hochhaus, A. and Cross, N.C.P. (2007) Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukaemia. British Journal of Haematology, 137, (s1), p.24. (doi:10.1111/j.1365-2141.2007.06557.x).

Kreil, Sebastian, Waghom, Katherine, Hehlmann, Rudiger, Reiter, Andreas, Hochhaus, Andreas and Cross, Nicholas C.P. (2007) Polymorphic variation at the STAT5 locus is associated with the response of CML patients to interferon alpha. Blood, 110, (11), p.857A.

Kyriakou, Theodosios, Pontefract, David E., Viturro, Enrique, Hodgkinson, Conrad P., Laxton, Ross C., Bogari, Neda, Cooper, George, Davies, Michael, Giblett, Joel, Day, Ian N.M., Simpson, Iain A., Albrecht, Christiane and Ye, Shu (2007) Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients. Human Molecular Genetics, 16, (12), 1412-1422. (doi:10.1093/hmg/ddm091).

Lachlan, K.L., Lucassen, A.M., Bunyan, D. and Temple, I.K. (2007) Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. Journal of Medical Genetics, 44, (9), 579-585. (doi:10.1136/jmg.2007.049981).

Lachlan, K.L., Lucassen, A.M., Bunyan, D. and Temple, I.K. (2007) Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. Journal of Medical Genetics, 44, (9), 579-585. (doi:10.1136/jmg.2007.049981).

Lawlor, Debbie A., Day, Ian N.M., Gaunt, Tom R., Hinks, Lesley J., Timpson, Nick, Ebrahim, Shah and Davey Smith, George (2007) The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: findings from the British women's heart and health study. Journal of Epidemiology and Community Health, 61, (1), 85-87. (doi:10.1136/jech.2006.049247).

Liao, Webber, Collins, Andrew, Hobbs, Matthew, Khatkar, Mehar S., Luo, Junhong and Nicholas, Frank W. (2007) A comparative location database (CompLDB): map integration within and between species. Mammalian Genome, 18, (5), 287-299. (doi:10.1007/s00335-007-9020-x).

Lips, Mirjam A., Syddall, Holly E., Gaunt, Tom R., Rodriguez, Santiago, Day, Ian N.M., Cooper, Cyrus, Dennison, Elaine M. and Southampton Genetic Epidemology Research Group, (2007) Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study. Journal of Rheumatology, 34, (4), 769-775.

Metzgeroth, G., Walz, C., Score, J., Siebert, R., Schnittger, S., Haferlach, C., Popp, H., Haferlach, T., Erben, P., Mix, J., Muller, M.C., Beneke, H., Muller, L., Del Valle, F., Aulitzky, W.E., Wittkowsky, G., Schmitz, N., Schulte, C., Muller-Hermelink, K., Hodges, E., Whittaker, S.J., Diecker, F., Dohner, H., Schuld, P., Hehlmann, R., Hochhaus, A., Cross, N.C.P. and Reiter, A. (2007) Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia, 21, (6), 1183-1188. (doi:10.1038/sj.leu.2404662).

Morton, Newton, Maniatis, Nikolas, Zhang, Weihua, Ennis, Sarah and Collins, Andrew (2007) Genome scanning by composite likelihood. American Journal of Human Genetics, 80, (1), 19-28. (doi:10.1086/510401).

Morton, Newton E. (2007) Commentary: Growth of beanbag genetics. International Journal of Epidemiology, 37, (3), 445-446. (doi:10.1093/ije/dyn047).

Packham, Graham, Rogers, Helen, Habens, Fay, Cecil, Alexander R.L., Hill, Thomas, Townsend, Paul A. and Ganesan, A. (2007) Novel synthetic analogues of the natural product histone deacetylase inhibitor FK2285. Molecular Cancer Therapeutics, 6, (12), 3428S-3428S.

Pfirrmann, M., Kreil, S., Haferlach, C., Wagdorn, K., Chase, A., Hehlmann, R., Reiter, A., Hochhaus, A. and Cross, N.C.P. (2007) Multiple analyses affirm the independent adverse influence of ABL/BCR breakpoint spanning deletions on surival in chronic myeloid leukemia. Haematologica, 92, (Supplement 1), p.205.

Quarrell, Oliver W.J., Rigby, Alan S., Barron, L., Crow, Y., Dalton, A., Dennis, N., Fryer, A.E., Heydon, F., Kinning, E., Lashwood, A., Losekoot, M., Margerison, L., McDonnell, S., Morrison, P.J., Norman, A., Peterson, M., Raymond, F.L., Simpson, S., Thompson, E. and Warner, J. (2007) Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study. Journal of Medical Genetics, 44, (3), e68-[6pp]. (doi:10.1136/jmg.2006.045120).

Reiter, Andreas, Grimwade, David and Cross, Nicholas C.P. (2007) Diagnostic and therapeutic management of eosinophilia-associated chronic myeloproliferative disorders. Haematologica, 92, (9), 1153-1158. (doi:10.3324/haematol.10328).

Rivera, H., Dominguez, M.G., Crolla, J.A., Harrison, C.J. and Jalali, G.R. (2007) A de novo (1;2;3;15;18) chromosome rearrangement with six non reciprocal translocations. Genetic Counseling, 18, (3), 289-293.

Robert, M.L., Lopez, T., Crolla, J., Huang, S., Owen, C., Burvill-Holmes, L., Stumper, O. and Turnpenny, P.D. (2007) Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clinical Dysmorphology, 16, (4), 241-246.

Russell, L.M., Strike, P., Browne, C.E. and Jacobs, P.A. (2007) X chromosome loss and ageing. Cytogenetic and Genome Research, 116, (3), 181-185. (doi:10.1159/000098184).

Sanassy, Shane (2007) Functional study of ubiquitin C-terminal hydrolase-L1 gene promoter haplotypes. University of Southampton, School of Medicine, Doctoral Thesis , 296pp.

Score, J., Calasanz, M.J., Pane, F., Ottmann, O., Cross, N.C.P. and Grand, F.H. (2007) Analysis of T(9;22) breakpoints indicates that P210 and P190BCR-ABL are formed by distinct mechanisms. Haematologica-the Hematology Journal, 92, (supplement 1), 1.

Self, James E., Shawkat, Fatima, Malpas, Crispin T., Thomas, N. Simon, Harris, Christopher M., Hodgkins, Peter R., Chen, Xiaoli, Trump, Dorothy and Lotery, Andrew J. (2007) Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Archives of Ophthalmology, 125, (9), 1255-1263.

Silver, Richard T., Vandris, Katherine, Wang, Y. Lynn, Christos, Paul J., Adriano, Fernando, Jones, Amy V. and Cross, Nicholas C.P. (2007) JAK2(V617F) mutational load in patients with Polycythemia Vera (PV) measured by peripheral blood DNA is associated with disease severity. Blood, 110, (11), p.746A.

Simoes, Manuel S., Score, Joannah, Cross, Nicholas C.P., Apperley, Jane F. and Melo, Junia V. (2007) How cured are CML patients in complete molecular remission (CMR) after stem cell transplantation or imatinib? Blood, 110, (11), p.306A.

Sonnenberg-Riethmacher, E., Wüstefeld, T., Miehe, M., Trautwein, C. and Riethmacher, D. (2007) Maid (GCIP) is involved in cell cycle control of hepatocytes. Hepatology, 45, (2), 404-411. (doi:10.1002/hep.21461).

Soond, Surinder M., Carroll, Christopher, Townsend, Paul A., Sayan, Emre, Melino, Gerry, Behrmann, Iris, Knight, Richard A., Latchman, David S. and Stephanou, Anastasis (2007) STAT1 regulates p73-mediated Bax gene expression. Federation of European Biochemical Societies (FEBS) Letters, 581, (6), 1217-1226. (doi:10.1016/j.febslet.2007.02.049).

Temple, I.K. (2007) Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. Endocrine Development, 12, 113-123. (doi:10.1159/000109638).

Turnpenny, Lee (2007) Is 'cloning' mad, bad and dangerous? European Molecular Biology Organization (EMBO) Reports, 8, (1), p.2. (doi:10.1038/sj.embor.7400885).

Walz, Christoph, Metzgeroth, Georgia, Haferlach, Claudia, Schmitt-Graeff, Annette, Fabarius, Alice, Hagen, Volker, Prummer, Otto, Rauh, Stefan, Hehlmann, Rüdiger, Hochhaus, Andreas, Cross, Nicholas C.P. and Reiter, Andreas (2007) Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor beta gene. Haematologica, 92, (2), 163-169. (doi:10.3324/haematol.10980).

Walz, Christoph, Ritter, Michael, Haferlach, Claudia, Schnittger, Susanne, Schulte, Christoph, Haferlach, Torsten, Metzgeroth, Georgia, Hehlmann, Rüdiger, Hochhaus, Andreas, Cross, Nicholas C.P. and Reiter, Andreas (2007) Complete hematologic response to sunitinib in an eosinophilia-associated chronic myeloproliferative disorder with an ETV6-FLT3 fusion gene. Blood, 110, (11), p.1041A.

Wang, Y. Lynn, Vandris, Katherine, Jones, Amy V., Cross, Nicholas C.P., Christos, Paul J., Adriano, Fernando and Silver, Richard T. (2007) JAK2 mutations are present in all cases of polycythemia vera. Blood, 110, (11), p.241B.

Wetzel, C., Hu, J., Riethmacher, D., Benckendorff, A., Harder, L., Eilers, A., Moshourab, R., Kozlenkov, A., Labuz, D., Caspani, O, Erdmann, B., Machelska, H., Heppenstall, P.A. and Lewin, G.R. (2007) A stomatin-domain protein essential for touch sensation in the mouse. Nature, 445, (7124), 206-209. (doi:10.1038/nature05394).

Yang, I.A. and Holloway, J.W. (2007) Asthma: advancing gene-environment studies. Clinical & Experimental Allergy, 37, (9), 1264-1266. (doi:10.1111/j.1365-2222.2007.02798.x).

Ye, S., Patodi, N., Walker-Bone, K., Reading, I., Cooper, C. and Dennison, E. (2007) Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis. International Journal of Immunogenetics, 34, (2), 81-85. (doi:10.1111/j.1744-313X.2007.00664.x).

Zhang, W., Jia, W., Hu, C., Maniatis, N., Collins, A. and Morton, N.E. (2007) Genome-wide association mapping under the Malecot model and composite likelihood. Genetic Epidemiology, 31, (5), p.455. (doi:10.1002/gepi.20247).