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Items where Division is "Faculties (pre 2011 reorg) > Faculty of Medicine Health & Life Sciences (pre 2011 reorg) > Medicine (pre 2011 reorg) > Human Genetics (pre 2011 reorg)
Faculties (pre 2018 reorg) > Faculty of Medicine (pre 2018 reorg) > Medicine (pre 2011 reorg) > Human Genetics (pre 2011 reorg)" and Year is 2007

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Group by: No Grouping | Authors/Creators | Item Type
Number of items: 58.

Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits - Mohammad R. Abdollahi, Rohan M. Lewis, Tom R. Gaunt, Debbie V.E. Cumming, Santiago Rodriguez, Matthew Rose-Zerilli, Andrew R. Collins, Holly E. Syddall, William M. Howell, Cyrus Cooper, Keith M. Godfrey, Iain T. Cameron and Ian N.M. Day
Type: Article | 2007 | Item not available on this server.

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE - Khalid K. Alharbi, Emmanuel Spanakis, Karen Tan, Matt J. Smith, Mohammed A. Aldahmesh, Sandra D. O'Dell, Avan Aihie Sayer, Debbie A. Lawlor, Shah Ebrahim, George Davey Smith, Stephen O'Rahilly, Sadaf Farooqi, Cyrus Cooper, David I.W. Phillips and Ian N.M. Day
Type: Article | 2007 | Item not available on this server.

Effect of IL-13 receptor ?2 levels on the biological activity of IL-13 variant R110Q - Allison-Lynn Andrews, Fabio Bucchieri, Kazuhiko Arima, Kenji Izuhara, Stephen T. Holgate, Donna E. Davies and John W. Holloway
Type: Article | 2007 | Item not available on this server.

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene - David J. Bunyan, Alison C. Skinner, Emma J. Ashton, Julie Sillibourne, Tom Brown, Amanda L. Collins, Nicholas C.P. Cross, John F. Harvey and David O. Robinson
Type: Article | 2007 | Item not available on this server.

Long-chain n-3 fatty acids enter advanced atherosclerotic plaques and are associated with decreased inflammation and decreased inflammatory gene expression. - A.L. Cawood, R. Ding, F.L. Napper, R. Young, J. Williams, M. Ward, O. Gudmundsen, S. Payne, H. Vic, C.P. Shearman, S. Ye, P.J. Gallagher, R.F. Grimble and P.C. Calder
Type: Article | 2007 | Item not available on this server.

Genetic Analysis Workshop 15: gene expression analysis and approaches to detecting multiple functional loci - Heather J Cordell, Mariza de Andrade, Marie-Claude Babron, Christopher W Bartlett, Joseph Beyene, Heike Bickeböller, Robert Culverhouse, L Adrienne Cupples, E Warwick Daw, Josée Dupuis, Catherine T Falk, Saurabh Ghosh, Katrina A Goddard, Ellen L Goode, Elizabeth R Hauser, Lisa J Martin, Maria Martinez, Kari E North, Nancy L Saccone, Silke Schmidt, William Tapper, Duncan Thomas, David Tritchler, Veronica J Vieland, Ellen M Wijsman, Marsha A Wilcox, John S Witte, Qiong Yang, Andreas Ziegler, Laura Almasy and Jean W Maccluer
Type: Article | 2007 | Item not available on this server.

BCRl-ABL-negative chronic myeloid leukaemia - Nicholas C.P. Cross and Andreas Reiter
Type: Book Section | 2007 | Springer | Item not available on this server.

Acquired isodisomy is common in atypical myeloproliferative disorders - C. Curtis, F.H. Grand, S. Kreil, D.G. Oscier, A.G. Hall and N.C.P. Cross
Type: Article | 2007 | Item not available on this server.

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes - S. Ennis, A. Murray, G. Brightwell, N.E. Morton and P.A. Jacobs
Type: Article | 2007 | Item availability restricted.

Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region - Sarah Ennis, Srini Goverdhan, Angela Cree, Josephine Hoh, Andrew Collins and Andrew Lotery
Type: Article | 2007

Type: Article | 2007 | Item not available on this server.

A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy - Francis H. Grand, Sameena Iqbal, Lingyan Zhang, Nigel H. Russell, Andrew Chase and Nicholas C.P. Cross
Type: Article | 2007 | Item not available on this server.

Inherited mutations in BRCA1 are much more frequent than in BRCA2 amongst young breast cancer cases - V.N. Hammond, S.M. Gerty, J. Sillibourne, D. Ward, C. Mattocks, P. Simmonds, N. Graham, M. Armstrong and D.M. Eccles
Type: Article | 2007 | Item not available on this server.

Mortality and cancer incidence in males with Y polysomy in Britain: A cohort study - Craig D. Higgins, Anthony J. Swerdlow, Minouk J. Schoemaker, Alan F. Wright, Patricia A. Jacobs and None and On behalf of the UK clinical cytogenetics group
Type: Article | 2007 | Item not available on this server.

Local genetic and environmental factors in asthma disease pathogenesis: chronicity and persistence mechanisms - S.T. Holgate, D.E. Davies, R.M. Powell, P.H. Howarth, H.M. Haitchi and J.W. Holloway
Type: Article | 2007 | Item not available on this server.

Genetic variation in the 5-HT2A receptor and altered neocortical [H-3] ketanserin binding in Alzheimer's disease - C. Holmes, M. McCulley, J.A.R. Nicoll, J.T. Alder, C.P.L.H. Chen and P.T. Francis
Type: Article | 2007 | Item not available on this server.

Cortisol clearance and associations with insulin sensitivity, body fat and fatty liver in middle-aged men - H.B. Holt, S.H. Wild, A.D. Postle, J. Zhang, G. Koster, M. Umpleby, F. Shojaee-Moradie, K. Dewbury, P.J. Wood, D.I. Phillips and C.D. Byrne
Type: Article | 2007 | Item not available on this server.

Deletion of 16q identified by FISH is an independent adverse prognostic marker in multiple myeloma - M.W. Jenner, P.E. Leone, B.A. Walker, D.C. Johnson, L. Chiecchio, E.D. Cabanas, G.P. Dagrada, M. Nightingale, R.K.M. Protheroe, D. Stockley, M. Else, N.J. Dickens, F.M. Ross, N.C.P. Cross, F.E. Davies and G.J. Morgan
Type: Article | 2007 | Item not available on this server.

Enhanced feedback sensitivity to prednisolone in chronic fatigue syndrome - Walid K. Jerjes, Norman F. Taylor, Peter J. Wood and Anthony J. Cleare
Type: Article | 2007 | Item not available on this server.

Type: Article | 2007 | Item not available on this server.

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 - J.V. Jovanovic, J. Score, K. Waghorn, D. Cilloni, E. Gottardi, G. Metzgeroth, P. Erben, H. Popp, C. Walz, A. Hochhaus, C. Roche-Lestienne, C. Preudhomme, E. Solomon, J. Apperley, M. Rondoni, E. Ottaviani, G. Martinelli, F. Brito-Babapulle, G. Saglio, R. Hehlmann, N.C. Cross, A. Reiter and D. Grimwade
Type: Article | 2007 | Item not available on this server.

Impact of surgeon-specific data reporting on surgical training - O.A. Khan, S. Iyengar, D.E. Pontefract, V. Rogers, S.K. Ohri and S.A. Livesey
Type: Article | 2007 | Item not available on this server.

Genetic association studies of interleukin-13 receptor alpha1 subunit gene polymorphisms in asthma and atopy - A.K. Konstantinidis, S.J. Barton, I. Sayers, I.A. Yang, J.L. Lordan, S. Rorke, J.B. Clough, S.T. Holgate and J.W. Holloway
Type: Article | 2007 | Item not available on this server.

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN) - Olga Koop, Anja Schirmacher, Eva Nelis, Vincent Timmerman, Peter De Jonghe, Bernd Ringelstein, Vedrana M. Rasic, Philippe Evrard, Jutter Gärtner, Kristl G. Claeys, Silke Appenzeller, Bernd Rautenstrauss, Kathrin Huhne, Maria A. Ramos-Arroyo, Helmut Wörle, Jukka S. Moilanen, Simon Hammans and Gregor Kuhlenbäumer
Type: Article | 2007 | Item not available on this server.

Type: Article | 2007 | Item not available on this server.

Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukaemia - S. Kreil, M. Pfirrmann, K. Waghorn, A. Chase, R. Hehlmann, A. Reiter, A. Hochhaus and N.C.P. Cross
Type: Article | 2007 | Item not available on this server.

Polymorphic variation at the STAT5 locus is associated with the response of CML patients to interferon alpha - Sebastian Kreil, Katherine Waghom, Rudiger Hehlmann, Andreas Reiter, Andreas Hochhaus and Nicholas C.P. Cross
Type: Article | 2007 | Item not available on this server.

Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients - Theodosios Kyriakou, David E. Pontefract, Enrique Viturro, Conrad P. Hodgkinson, Ross C. Laxton, Neda Bogari, George Cooper, Michael Davies, Joel Giblett, Ian N.M. Day, Iain A. Simpson, Christiane Albrecht and Shu Ye
Type: Article | 2007 | Item not available on this server.

Type: Article | 2007 | Item not available on this server.

The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: findings from the British women's heart and health study - Debbie A. Lawlor, Ian N.M. Day, Tom R. Gaunt, Lesley J. Hinks, Nick Timpson, Shah Ebrahim and George Davey Smith
Type: Article | 2007 | Item not available on this server.

A comparative location database (CompLDB): map integration within and between species - Webber Liao, Andrew Collins, Matthew Hobbs, Mehar S. Khatkar, Junhong Luo and Frank W. Nicholas
Type: Article | 2007 | Item not available on this server.

Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study - Mirjam A. Lips, Holly E. Syddall, Tom R. Gaunt, Santiago Rodriguez, Ian N.M. Day, Cyrus Cooper, Elaine M. Dennison and None Southampton Genetic Epidemology Research Group
Type: Article | 2007 | Item not available on this server.

Genome scanning by composite likelihood - N MORTON, N MANIATIS, WH ZHANG, S ENNIS and A COLLINS
Type: Article | 2007 | Item not available on this server.

Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma - G. Metzgeroth, C. Walz, J. Score, R. Siebert, S. Schnittger, C. Haferlach, H. Popp, T. Haferlach, P. Erben, J. Mix, M.C. Muller, H. Beneke, L. Muller, F. Del Valle, W.E. Aulitzky, G. Wittkowsky, N. Schmitz, C. Schulte, K. Muller-Hermelink, E. Hodges, S.J. Whittaker, F. Diecker, H. Dohner, P. Schuld, R. Hehlmann, A. Hochhaus, N.C.P. Cross and A. Reiter
Type: Article | 2007 | Item not available on this server.

Genome scanning by composite likelihood - Newton Morton, Nikolas Maniatis, Weihua Zhang, Sarah Ennis and Andrew Collins
Type: Article | 2007 | Item availability restricted.

Type: Article | 2007 | Item not available on this server.

Novel synthetic analogues of the natural product histone deacetylase inhibitor FK2285 - Graham Packham, Helen Rogers, Fay Habens, Alexander R.L. Cecil, Thomas Hill, Paul A. Townsend and A. Ganesan
Type: Article | 2007 | Item not available on this server.

Multiple analyses affirm the independent adverse influence of ABL/BCR breakpoint spanning deletions on surival in chronic myeloid leukemia - M. Pfirrmann, S. Kreil, C. Haferlach, K. Wagdorn, A. Chase, R. Hehlmann, A. Reiter, A. Hochhaus and N.C.P. Cross
Type: Article | 2007 | Item not available on this server.

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study - Oliver W.J. Quarrell, Alan S. Rigby, L. Barron, Y. Crow, A. Dalton, N. Dennis, A.E. Fryer, F. Heydon, E. Kinning, A. Lashwood, M. Losekoot, L. Margerison, S. McDonnell, P.J. Morrison, A. Norman, M. Peterson, F.L. Raymond, S. Simpson, E. Thompson and J. Warner
Type: Article | 2007 | Item not available on this server.

Type: Article | 2007 | Item not available on this server.

A de novo (1;2;3;15;18) chromosome rearrangement with six non reciprocal translocations - H. Rivera, M.G. Dominguez, J.A. Crolla, C.J. Harrison and G.R. Jalali
Type: Article | 2007 | Item not available on this server.

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart - M.L. Robert, T. Lopez, J. Crolla, S. Huang, C. Owen, L. Burvill-Holmes, O. Stumper and P.D. Turnpenny
Type: Article | 2007 | Item not available on this server.

X chromosome loss and ageing - L.M. Russell, P. Strike, C.E. Browne and P.A. Jacobs
Type: Article | 2007 | Item not available on this server.

Type: Thesis | 2007

Analysis of T(9;22) breakpoints indicates that P210 and P190BCR-ABL are formed by distinct mechanisms - J. Score, M.J. Calasanz, F. Pane, O. Ottmann, N.C.P. Cross and F.H. Grand
Type: Article | 2007 | Item not available on this server.

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus - James E. Self, Fatima Shawkat, Crispin T. Malpas, N. Simon Thomas, Christopher M. Harris, Peter R. Hodgkins, Xiaoli Chen, Dorothy Trump and Andrew J. Lotery
Type: Article | 2007 | Item not available on this server.

JAK2(V617F) mutational load in patients with Polycythemia Vera (PV) measured by peripheral blood DNA is associated with disease severity - Richard T. Silver, Katherine Vandris, Y. Lynn Wang, Paul J. Christos, Fernando Adriano, Amy V. Jones and Nicholas C.P. Cross
Type: Article | 2007 | Item not available on this server.

How cured are CML patients in complete molecular remission (CMR) after stem cell transplantation or imatinib? - Manuel S. Simoes, Joannah Score, Nicholas C.P. Cross, Jane F. Apperley and Junia V. Melo
Type: Article | 2007 | Item not available on this server.

Maid (GCIP) is involved in cell cycle control of hepatocytes - E. Sonnenberg-Riethmacher, T. Wüstefeld, M. Miehe, C. Trautwein and D. Riethmacher
Type: Article | 2007 | Item not available on this server.

STAT1 regulates p73-mediated Bax gene expression - Surinder M. Soond, Christopher Carroll, Paul A. Townsend, Emre Sayan, Gerry Melino, Iris Behrmann, Richard A. Knight, David S. Latchman and Anastasis Stephanou
Type: Article | 2007 | Item not available on this server.

Type: Article | 2007 | Item not available on this server.

Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor beta gene - Christoph Walz, Georgia Metzgeroth, Claudia Haferlach, Annette Schmitt-Graeff, Alice Fabarius, Volker Hagen, Otto Prummer, Stefan Rauh, Rüdiger Hehlmann, Andreas Hochhaus, Nicholas C.P. Cross and Andreas Reiter
Type: Article | 2007 | Item not available on this server.

Complete hematologic response to sunitinib in an eosinophilia-associated chronic myeloproliferative disorder with an ETV6-FLT3 fusion gene - Christoph Walz, Michael Ritter, Claudia Haferlach, Susanne Schnittger, Christoph Schulte, Torsten Haferlach, Georgia Metzgeroth, Rüdiger Hehlmann, Andreas Hochhaus, Nicholas C.P. Cross and Andreas Reiter
Type: Article | 2007 | Item not available on this server.

JAK2 mutations are present in all cases of polycythemia vera - Y. Lynn Wang, Katherine Vandris, Amy V. Jones, Nicholas C.P. Cross, Paul J. Christos, Fernando Adriano and Richard T. Silver
Type: Article | 2007 | Item not available on this server.

A stomatin-domain protein essential for touch sensation in the mouse - C. Wetzel, J. Hu, D. Riethmacher, A. Benckendorff, L. Harder, A. Eilers, R. Moshourab, A. Kozlenkov, D. Labuz, O Caspani, B. Erdmann, H. Machelska, P.A. Heppenstall and G.R. Lewin
Type: Article | 2007 | Item not available on this server.

Asthma: advancing gene-environment studies - I.A. Yang and J.W. Holloway
Type: Article | 2007 | Item not available on this server.

Type: Article | 2007 | Item not available on this server.

Genome-wide association mapping under the Malecot model and composite likelihood - W. Zhang, W. Jia, C. Hu, N. Maniatis, A. Collins and N.E. Morton
Type: Article | 2007 | Item not available on this server.

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