Browse by Divisions pre August 2011

An, Qian, Wright, Sarah L., Konn, Zoë J., Matheson, Elizabeth, Minto, Lynne, Moorman, Anthony V., Parker, Helen, Griffiths, Mike, Ross, Fiona M., Davies, Teresa, Hall, Andy G., Harrison, Christine J., Irving, Julie A. and Strefford, Jon C. (2008) Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer. Proceedings of the National Academy of Sciences of the Unites States of America, 105, (44), 17050-17054. (doi:10.1073/pnas.0803494105). (PMID:18957548).

Baptista, J., Mercer, C., Prigmore, E., Gribble, S.M., Carter, N.P., Maloney, V., Thomas, N.S., Jacobs, P.A. and Crolla, J.A. (2008) Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. American Journal of Human Genetics, 82, (4), 927-936. (doi:10.1016/j.ajhg.2008.02.012).

Birnberg, Tal, Bar-On, Liat, Sapoznikov, Anita, Caton, Michele L., Cervantes-Barragán, Luisa, Makia, Divine, Krautgamer, Rita, Brenner, Ori, Ludewig, Burkhard, Brockschnieder, Damian, Riethmacher, Dieter, Reizis, Boris and Jung, Steffan (2008) Lack of conventional dendritic cells is compatible with normal development and T cell homeostasis, but causes myeloid proliferative syndrome. Immunity, 29, (6), 986-997. (doi:10.1016/j.immuni.2008.10.012). (PMID:19062318).

Blyth, Moira, Beal, Sarah, Huang, Shuwen, Crolla, John and Foulds, Nicola (2008) A novel 2.43 Mb deletion of 7q11.22-q11.23. American Journal of Medical Genetics Part A, 146A, (24), 3206-3210. (doi:10.1002/ajmg.a.32584).

Blyth, Moira, Huang, Shuwen, Maloney, Viv, Crolla, John A. and Temple, I.Karen (2008) A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’. European Journal of Medical Genetics, 51, (6), 672-678. (doi:10.1016/ejmg.2008.09.002).

Branford, Susan, Fletcher, Linda, Cross, Nicholas C.P., Müller, Martin C., Hochhaus, Andreas, Kim, Dong-Wook, Radich, Jerald P., Saglio, Giuseppe, Pane, Fabrizio, Kamel-Reid, Suzanne, Wang, Y. Lynn, Press, Richard D., Lynch, Kevin, Rudzki, Zbigniew, Goldman, John M. and Hughes, Timothy (2008) Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood, 112, (8), 3330-3338. (doi:10.1182/blood-2008-04-150680).

Ennis, Sarah (2008) Linkage disequilibrium as a tool for detecting signatures of natural selection. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping: Analysis and Applications. Totowa, USA, Humana, 59-70. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_5).

Ennis, Sarah, Jomary, Catherine, Mullins, Robert, Cree, Angela, Chen, Xiaoli, Macleod, Alex, Jones, Stephen, Collins, Andrew, Stone, Edwin and Lotery, Andrew (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet, 372, (9652), 1828-1834. (doi:10.1016/S0140-6736(08)61348-3). (PMID:18842294).

Gibson, Jane, Tapper, William, Cox, David, Zhang, Weihua, Pfeufer, Arne, Gieger, Christian, Wichmann, H.-Erich, Kaab, Stefan, Collins, Andrew R., Meitinger, Thomas and Morton, Newton (2008) A multimetric approach to analysis of genome-wide association by single markers and composite likelihood. Proceedings of the National Academy of Sciences (USA), 105, (7), 2592-2597. (doi:10.1073/pnas.0711903105).

Gole, L.A., Lim, J., Crolla, J.A. and Loke, K.Y. (2008) Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Medical Journal, 49, (4), 349-351.

Goverdhan, Srinivas (2008) Immunogentetic pathways in age related macular degeneration. University of Southampton, Human Genetics, Doctoral Thesis , 190pp.

Holloway, J.W., Barton, S.J, Holgate, S.T ., Rose-Zerilli, M.J. and Sayers, I. (2008) The role of LTA4H and ALOX5AP polymorphism in asthma and allergy susceptibility. Allergy, 59, (8), 1046-1053. (doi:10.1111/j.1398-9995.2008.01667.x).

Holloway, J.W. and Koppelman, G.H. (2008) 17q21 Variants and asthma - questions and answers. New England Journal of Medicine, 359, (19), 2043-2045. (doi:10.1056/NEJMe0807576).

Holloway, John W., Yang, Ian A. and Holgate, Stephen T. (2008) Interpatient variability in rates of asthma progression: can genetics provide an answer? Journal of Allergy and Clinical Immunology, 121, (3), 573-579. (doi:10.1016/j.jaci.2008.01.007).

Hollox, Edward J., Barber, John C.K., Brookes, Aathony J. and Armour, John A.L. (2008) Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1. Genome Research, 18, (11), 1686-1697. (doi:10.1101/gr.080945.108).

Jakkula, Eveliina, Rehnstrom, Karola, Varilo, Teppo, Pietiläinen, Olli P.H., Paunio, Tiina, Pedersen, Nancy L., deFaire, Ulf, Järvelin, Marjo-Riitta, Saharinen, Juha, Freimer, Nelson, Ripatti, Samuli, Purcell, Shaun, Collins, Andrew, Daly, Mark J., Palotie, Aarno and Peltonen, Leena (2008) The genome-wide patterns of variation expose significant substructure in a founder population. American Journal of Human Genetics, 83, (6), 787-794. (doi:10.1016/j.ajhg.2008.11.005).

Jones, A.V., Cross, N.C., White, H.E., Green, A.R. and Scott, L.M. (2008) Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica, 93, (10), 1560-1564. (doi:10.3324/haematol.12883).

Konstantinidis, A.K., Puddicombe, S.M., Mochizuki, A., Sheth, P.D., Yang, I.A., Yoshisue, H., Wilson, S.J., Davies, D.E., Holgate, S.T. and Holloway, J.W. (2008) Cellular localization of interleukin 13 receptor alpha2 in human primary bronchial epithelial cells and fibroblasts. Journal of Investigational Allergology and Clinical Immunology, 18, (3), 174-180.

Metzgeroth, G., Walz, C., Erben, P., Popp, H., Schmitt-Graeff, A., Haferlach, C., Fabarius, A., Schmittger, S., Grimwade, D., Cross, N.C., Hehlmann, R., Hochhaus, A. and Reiter, A. (2008) Safety and efficacy of imatinib in chronic eosinophilic leukaemia and hyperosinophilic syndrome - a phase-II study. British Journal of Haematology, 143, (5), 707-715. (doi:10.1111/j.1365-2141.2008.07294.x).

Morton, Newton E. (2008) A history of association mapping. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping. Totowa, USA, Humana, 17-21. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9).

Nieuwenhuijsen, Mark J., Toledano, Mireille B., Bennett, James, Best, Nicky, Hambly, Peter, de Hoogh, Cornelis, Wellesley, Dianna, Boyd, Patricia A., Abramsky, Lenore, Dattani, Nirupa, Fawell, John, Briggs, David, Jarup, Lars and Elliott, Paul (2008) Chlorination disinfection by-products and risk of congenital anomalies in England and Wales. Environmental Health Perspectives, 116, (2), 216-222. (doi:10.1289/ehp.10636).

Parker, Helen, Cheung, Kan L., Robinson, Hazel M., Harrison, Christine J. and Strefford, Jon C. (2008) Cytogenetic and genomic characterization of cell line ARH77. Cancer Genetics and Cytogenetics, 181, (1), 40-45. (doi:10.1016/j.cancergencyto.2007.10.013).

Perrett, Rebecca Mary (2008) The human germ cell lineage: pluripotency, tumourigenesis and proliferation. University of Southampton, Human Genetics, Doctoral Thesis , 299pp.

Raponi, Michela, Buratti, Emanuele, Llorian, Miriam, Stuani, Cristiana, Smith, CHristiana W.J. and Baralle, Diana (2008) Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1. FEBS Journal, 275, (24), 6101-6108. (doi:10.1111/j.1742-4658.2008.06734.x). (PMID:19016857).

Rutsch, Frank, Boyer, Petra, Nitschke, Yvonne, Ruf, Nico, Lorenz-Depierieux, Bettina, Wittkampf, Tanja, Weissen-Plenz, Gabriele, Fischer, Rudolf-josef, Mughal, Zulf, Gregory, John W., Davies, Justin H., Loirat, Chantal, Strom, Tim M., Schnabel, Dirk, Nurnberg, Peter and Terkeltaub, Robert GACI Study Group (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circulation: Cardiovascular Genetics, 1, (2), 133-140. (doi:10.1161/CIRCGENETICS.108.797704).

Sonnenberg, S., Shearman, C.P., Baxter, S., Morris, G.E., Cumming, D.V., Montgomery, H.E., Rose-Zerilli, M.J. and Day, I.N. (2008) Level of ex vivo interleukin 6 expression in human peripheral fat compares with other tissues. European Journal of Vascular and Endovascular Surgery, 35, (3), 314-319. (doi:10.1016/j.ejvs.2007.10.006).

Tapper, William, Hammond, Victoria, Gerty, Sue, Ennis, Sarah, Simmonds, Peter, Collins, Andrew and Eccles, Diana Posh Steering Group (2008) The influence of genetic variation in thirty selected genes on the clinical characteristics of early onset breast cancer. Breast Cancer Research, 10, (6), R108. (doi:10.1186/bcr2213). (PMID:19094228).

Thomson, J.J., Moonim, M., Van der Walt, J., Grattan, C., Lawlor, F., White, J., Cross, N.C.P., Harrison, C. and Radia, D. (2008) A single centre experience of mastocytosis: Guy's and St Thomas' NHS Foundation Trust. British Journal of Haematology, 141, (s1), p.62. (doi:10.1111/j.1365-2141.2008.07061.x).

Unger, Sheila, Antoniazzi, Franco, Brugnara, Milena, Alanay, Yasemin, Caglayan, Ahmet, Lachlan, Katherine, Ikegawa, Shiro, Nishimura, Gen, Zabel, Bernhard, Spranger, Jurgen and Superti-Furga, Andrea (2008) Clinical and radiographic delineation of odontochondrodysplasia. American Journal of Medical Genetics Part A, 146A, (6), 770-778. (doi:10.1002/ajmg.a.32214). (PMID:18241073).

Wyatt, Alexander, Bakrania, Preet, Bunyan, David J., Osborne, Robert J., Crolla, John A., Salt, Alison, Ayuso, Carmen, Newbury-Ecob, Ruth, Abou-Rayyah, Y., Collin, J. Richard O., Robinson, David and Ragge, Nicola (2008) Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Human Mutation, 29, (11), E278-E283. (doi:10.1002/humu.20869). (Submitted).