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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 2003

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Group by: No Grouping | Authors/Creators | Item Type
Jump to: B | C | D | F | G | H | K | L | M | P | R | S | T | W | Y | Z
Number of items: 75.

B

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay - M. Baralle, D. Baralle, L. De Conti, C. Mattocks, J. Whittaker, A. Knezevich, C. Ffrench-Constant and F.E. Baralle
Type: Article | 2003 | Item not available on this server.

Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders - E. J. Baxter, S. Kulkarni, J. L. Vizmanos, R. Jaju, G. Martinelli, N. Testoni, G. Hughes, Z. Salamanchuk, M. J. Calasanz, I. Lahortiga, C. F. Pocock, R. Dang, C. Fidler, J. S. Wainscoat, J. Boultwood and N. C. Cross
Type: Article | 2003 | Item not available on this server.

Polymorphisms in the interleukin-4 and interleukin-4 receptor ? chain genes confer susceptibility to asthma and atopy in a Caucasian population - B. Beghé, S. Barton, S. Rorke, Q. Peng, I. Sayers, T. Gaunt, T.P. Keith, J.B. Clough, S.T. Holgate and J.W. Holloway
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

New case of "apple-peel" intestinal atresia and ocular anomalies with mosaic variegated aneuploidy - K. L. Bower, N. R. Dennis, D. Wellesley, C. P. Williams, P. Hodgkins, C. Tyreman, C. E. Browne and J. C. Barber
Type: Article | 2003 | Item not available on this server.

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3 - S. Brickwood, D. T. Bonthron, L. I. Al-Gazali, K. Piper, T. Hearn, D. I. Wilson and N. A. Hanley
Type: Article | 2003 | Item not available on this server.

Telomere length in peripheral blood granulocytes reflects response to treatment with imatinib in patients with chronic myeloid leukemia - Tim H. Brümmendorf, InciI Ersöz, Ulrike Hartmann, Kerol Bartolovic, Stefan Balabanov, Alexandra Wahl, Peter Paschka, Sebastian Kreil, Tanja Lahaye, Ute Berger, Harald Gschaidmeier, Carsten Bokemeyer, Rüdiger Hehlmann, Klaus Dietz, Peter M. Lansdorp, Lothar Kanz and Andreas Hochhaus
Type: Article | 2003 | Item not available on this server.

Importance of mutation screening in 'false-positive' MLPA cases - D. Bunyan, N.S. Thomas, N.C.P. Cross and J.F. Harvey
Type: Article | 2003 | Item not available on this server.

C

Exploring the mechanism of action of the sperm-triggered calcium-wave pacemaker in ascidian zygotes - Michael Carroll, Mark Levasseur, Chris Wood, Michael Whitaker, Keith T. Jones and Alex McDougall
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Polymorphisms in Toll-like receptor 4 and the systemic inflammatory response syndrome - N.J.A. Child, I.A. Yang, M.C.K. Pulletz, K. de Courcy-Golder, A.-L. Andrews, V.J. Pappachan and J.W. Holloway
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

D

Type: Book Section | 2003 | Nature Publishing Group | Item not available on this server.

MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP - Kenji Deguchi, Paul M. Ayton, Melina Carapeti, Jeffery L. Kutok, Cynthia S. Snyder, Ifor R. Williams, Nicholas C.P. Cross, Christopher K. Glass, Michael L. Cleary and D. Gary Gilliland
Type: Article | 2003 | Item not available on this server.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes - Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, Trevor R.P. Cole and Nazneen Rahman
Type: Article | 2003 | Item availability restricted.

F

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays - H. Fiegler, S.M. Gribble, D.C. Burford, P. Carr, E. Prigmore, K.M. Porter, S. Clegg, J.A. Crolla, N.R. Dennis, P. Jacobs and N.P. Carter
Type: Article | 2003 | Item not available on this server.

A female case of Sedaghatian type spondylometaphyseal dysplasia - Nicola Foulds, Jo Fairhurst, I. Karen Temple, Steven Cade, Charlotte Groves and Tessa Lancaster
Type: Article | 2003 | Item not available on this server.

G

Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping - Tom R. Gaunt, Lesley J. Hinks, Hamid Rassoulian and Ian N.M. Day
Type: Article | 2003 | Item not available on this server.

Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans - Catriona D. Good, Kate Lawrence, N. Simon Thomas, Cathy J. Price, John Ashburner, Karl J. Friston, Richard S.J. Frackowiak, Lars Oreland and David H. Skuse
Type: Article | 2003 | Item not available on this server.

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p - Jane Guy, Tom Hearn, Moira Crosier, Jonathan Mudge, Luigi Viggiano, Dirk Koczan, Hans-Jurgen Thiesen, Jeffrey A. Bailey, Julie E. Horvath, Evan E. Eichler, Mark E. Earthrowl, Panos Deloukas, Lisa French, Jane Rogers, David Bentley and Michael S. Jackson
Type: Article | 2003 | Item not available on this server.

H

Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Na+, K+, ATPase activity in the human and bovine preimplantation embryo - Franchesca Houghton, Peter G. Humpherson, Judith A. Hawkhead, Christine J. Hall and Henry J. Leese
Type: Article | 2003 | Item not available on this server.

K

Placental 11?-Hydroxysteroid Dehydrogenase-2 and fetal cortisol/cortisone shuttle in small preterm infants - Eero Kajantie, Leo Dunkel, Ursula Turpeinen, Ulf-Hakan Stenman, Peter J. Wood, Mika Nuutila and Sture Andersson
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Prenatal ultrasound: detection and diagnosis of limb abnormalities - Liam Kevern, David Warwick, Diana Wellesley, Raj Senbaga and N.M. Clarke
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

L

Urocortin protects cardiac myocytes from ischemia/reperfusion injury by attenuating calcium-insensitive phospholipase A2 gene expression - K.M. Lawrence, T.M. Scarabelli, L. Turtle, A. Chanalaris, P.A. Townsend, C.J. Carroll, M. Hubank, A. Stephanou, R.A. Knight and D.S. Latchman
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Linkage disequilibrium in human populations - Christine Lonjou, Weihua Zhang, Andrew Collins, William J. Tapper, Eiram Elahi, Nikolas Maniatis and Newton E. Morton
Type: Article | 2003 | Item not available on this server.

Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina - Andrew J. Lotery, Grace S. Yang, Robert F. Mullins, Stephen R. Russell, Michael Schmidt, Edwin M. Stone, Jonathan D. Lindbloom, John A. Chiorini, Robert M. Kotin and Beverly L. Davidson
Type: Article | 2003 | Item not available on this server.

M

Type: Book Section | 2003 | Karger | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

A mitochondrial DNA sequence variant associated with schizophrenia and oxidative stress - R.M. Marchbanks, Margaret Ryan, I.N.M. Day, M. Owen, P. McGuffin and S.A. Whatley
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

A large scale validation of prototype software for high throughput Comparative Sequence Analysis - C. Mattocks, P.S. Tarpey, J.L. Whittaker, J.F. Harvey and N.C.P. Cross
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease - Angharad R. Morgan, Baiping Zhang, William Tapper, Andrew Collins and Shu Ye
Type: Article | 2003 | Item not available on this server.

Recollections of James Neel - Newton E. Morton
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

P

Imatinib for systemic mast-cell disease - A. Pardanani, M. Elliott, T. Reeder, C.Y. Li, E.J. Baxter, N.C.P. Cross and A. Tefferi
Type: Article | 2003 | Item not available on this server.

CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy - Animesh Pardanani, Rhett P. Ketterling, Stephanie R. Brockman, Heather C. Flynn, Sarah F. Paternoster, Brandon M. Shearer, Terra L. Reeder, Chin-Yang Li, Nicholas C.P. Cross, Jan Cools, Gary Gilliland, Gordon W. Dewald and Ayalew Tefferi
Type: Article | 2003 | Item not available on this server.

Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders - Animesh Pardanani, Terra Reeder, Luis F. Porrata, Chin-Yang Li, Henry D. Tazelaar, E. Joanna Baxter, Thomas E. Witzig, Nicholas C.P. Cross and Ayalew Tefferi
Type: Article | 2003 | Item not available on this server.

ADAM33: a novel therapeutic target for asthma - Robert M. Powell, Lynnsey M. Hamilton, Stephen T. Holgate, Donna E. Davies and John W. Holloway
Type: Article | 2003 | Item not available on this server.

R

Inhibition of 11ß-hydroxysteroid dehydrogenase type 1 lowers intraocular pressure in patients with ocular hypertension - S. Rauz, C.M. Cheung, P.J. Wood, M. Coca-Prados, E.A. Walker, P.I. Murray and P.M. Stewart
Type: Article | 2003 | Item not available on this server.

Characterization of two new fusion genes in the 8p11 myeloproliferative syndrome (EMS) generated by disruption of FGFR - A.E.K. Reiter, C.F.H. Walz, C. Schoch, A.J. Chase, R. Fuchs, A. Hochhaus, R. Hehlmann and N.C.P. Cross
Type: Article | 2003 | Item not available on this server.

Type: Book Section | 2003 | Churchill Livingstone | Item not available on this server.

Predicting cardiovascular risk factors from plasma cortisol measured during oral glucose tolerance tests - Rebecca M. Reynolds, Holly E. Syddall, Brian R. Walker, Peter J. Wood and David I. Phillips
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

S

Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma - I. Sayers, S. Barton, S. Rorke, B. Beghe, B. Hayward, P. Van Eerdewegh, T. Keith, J.B. Clough, S. Ye, J.W. Holloway, A.P. Sampson and S.T. Holgate
Type: Article | 2003 | Item not available on this server.

Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population - I. Sayers, S. Barton, S. Rorke, J. Sawyer, Q. Peng, B. Beghe, S. Ye, T. Keith, J.B. Clough, J.W. Holloway, A.P. Sampson and S.T. Holgate
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage - A.R. Shepard, N. Jacobson, R. Sui, H.T. Steely, A.J. Lotery, E.M. Stone and A.F. Clark
Type: Article | 2003 | Item not available on this server.

Type: Book Section | 2003 | Karger | Item not available on this server.

T

The first metric linkage disequilibrium map of a human chromosome - WJ TAPPER, N MANIATIS, NE MORTON and A COLLINS
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines - M. Tabiner, S. Youings, N. Dennis, C. Buis, A.G. Mayers, P.A. Jacobs, J.A. Crolla and D.S. Baldwin
Type: Article | 2003 | Item not available on this server.

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines - Melody Tabiner, Sheila Youings, Nicholas Dennis, David Baldwin, Christel Buis, Andrew Mayers, Patricia A. Jacobs and John A. Crolla
Type: Article | 2003 | Item availability restricted.

A metric linkage disequilibrium map of a human chromosome - W.J. Tapper, N. Maniatis, N.E. Morton and A. Collins
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Estimate of the prevalence of chromosome 15q11-q13 duplications - N.S. Thomas, S.E. Roberts and C.E. Browne
Type: Article | 2003 | Item not available on this server.

Investigation of the SHOX gene and Pseudoautosomal Region 1 in cases of Leri-Weill dyschondrosteosis - S. Thomas, V. Maloney, D.J. Bunyan, N.C.P. Cross and J.F. Harvey
Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

W

Mechanisms underlying loss of reciprocal fusion gene expression in acute promyelocytic leukaemia: evidence for deletions on der(17) and complex rearrangements yielding novel fusion gene transcripts - C. Walz, D. Grimwade, S. Saussele, A. Weisser, M. Lafage-Pochitaloff, A. Hochhaus, C. Schoch, S. Schnittger, E. Lengfelder, N.C.P. Cross, R. Hehlmann and A. Reiter
Type: Article | 2003 | Item not available on this server.

Interphase FISH analysis in multiple myeloma - M. Winfield, A.H. Ibrahim, A. Jones, R.K.M. Protheroe, J.B.L. Gunaserkera, C.S. Wragg, A. Vilain-Holmes and F.M. Ross
Type: Article | 2003 | Item not available on this server.

Y

Type: Article | 2003 | Item not available on this server.

Type: Article | 2003 | Item not available on this server.

Independent effects of the -219 G>T and ?2/ ?3/ ?4 polymorphisms in the apolipoprotein E gene on coronary artery disease: the Southampton Atherosclerosis Study - Shu Ye, Louise Dunleavey, Wendy Bannister, Lorna B. Day, William Tapper, Andrew Collins, Ian N.M. Day and Iain Simpson
Type: Article | 2003 | Item not available on this server.

Z

A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort - B. Zhang, S. Ye, A.A. Sayer, S.R. Hammans, S. Adio, L.J. Hinks, P.J. Smythe, D. Groot, C. Cooper and I.N.M. Day
Type: Article | 2003 | Item not available on this server.

Molecular pathogenesis of subarachnoid haemorrhage - Baiping Zhang, Kaare Fugleholm, Lorna B. Day, Shu Ye, Roy O. Weller and Ian N.M. Day
Type: Article | 2003 | Item not available on this server.

P2X7 polymorphism and chronic lymphocytic leukaemia: lack of correlation with incidence, survival and abnormalities of chromosome 12 - L.Y. Zhang, R.E. Ibbotson, J.A. Orchard, A.C. Gardiner, R.V. Seear, A.J. Chase, D.G. Oscier and N.C.P. Cross
Type: Article | 2003 | Item not available on this server.

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