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 2009
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Number of items: 86.
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy - Meena Balasubramanian, John C.K. Barber, Morag N. Collinson, Shuwen Huang, Viv K. Maloney, Dave Bunyan and Nicki Foulds
Type: Article
| 2009
| Item not available on this server.
Missed threads. The impact of pre-mRNA splicing defects on clinical practice - Diana Baralle, Anneke Lucassen and Emanuele Buratti
Type: Article
| 2009
| Item not available on this server.
STAT3 deletion sensitizes cells to oxidative stress - Seán P. Barry, Paul A. Townsend, James McCormick, Richard A. Knight, Tiziano M. Scarabelli, David S. Latchman and Anastasis Stephanou
Type: Article
| 2009
| Item not available on this server.
PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline - Sheila J. Barton, Gerard H. Koppelman, Judith M. Vonk, Claudia A. Browning, Ilja M. Nolte, Ceri E. Stewart, Sue Bainbridge, Stacey Mutch, Matthew J. Rose-Zerilli, Dirkje S. Postma, Nikolas Maniatis, Amanda P. Henry, Ian P. Hall, Stephen T. Holgate, Patrick Tighe, John W. Holloway and Ian Sayers
Type: Article
| 2009
| Item not available on this server.
Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones - Phillip A. Beer, Amy V. Jones, Anthony J. Bench, Andrea Goday-Fernandez, ElaineM. Boyd, Krishna J. Vaghela, Wendy N. Erber, Bassam Odeh, Christine Wright, Mary Frances McMullin, Jonathan Cullis, Brian J.P. Huntly, Claire N. Harrison, Nicholas C.P. Cross and Anthony R. Green
Type: Article
| 2009
| Item not available on this server.
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence - Sabina Benko, Judy A. Fantes, Judy A. Amiel, Dirk-Jan Kleinjan, Sophie Thomas, Jacqueline Ramsay, Negar Jamshidi, Abdelkader Essafi, Simon Heaney, Christopher T. Gordon, David McBride, Christelle Golzio, Malcolm Fisher, Paul Perry, Véronique Abadie, Carmen Ayuso, Muriel Holder-Espinasse, Nicky Kilpatrick, Melissa M. Lees, Arnaud Picard, I. Karen Temple, Paul Thomas, Marie-Paule Vazquez, Michel Vekemans, Hugues Roest Crollius, Nicholas D. Hastie, Arnold Munnich, Heather C Etchevers, Anna Pelet, Peter G. Farlie, David R. FitzPatrick and Stanislas Lyonnet
Type: Article
| 2009
| Item not available on this server.
Hepatocyte-specific NEMO deletion promotes NK/NKT cell- and TRAIL-dependent liver damage. - Naiara Beraza, Yann Malato, Leif E. Sander, Malika Al-Masaoudi, Julia Freimuth, Dieter Riethmacher, Gregory J. Gores, Tania Roskams, Christian Liedtke and Christian Trautwein
Type: Article
| 2009
| Item not available on this server.
Elements of morphology: standard terminology for the hands and feet - Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple and Helga Toriello
Type: Article
| 2009
| Item not available on this server.
Contribution of functional variation in the IL13 gene to allergy, hay fever and asthma in the NSHD longitudinal 1946 birth cohort - S. Black, A.S. Teixeira, A.X.W. Loh, L. Vinall, J.W. Holloway, R. Hardy and D.M. Swallow
Type: Article
| 2009
| Item not available on this server.
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells - Jet Bliek, Marielle Alders, Saskia M. Maas, Roelof-Jan Oostra, Deborah M. Mackay, Karin van der Lip, Johnatan L. Callaway, Alice Brooks, Sandra van 't Padje, Andries Westerveld, Nico J. Leschot and Marcel M.A.M. Mannens
Type: Article
| 2009
| Item not available on this server.
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome - Jet Bliek, Gaetano Verde, Jonathan Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paolo Ferrari, Mara Vittoria Cubellis, Lidia Larizza, I. Karen Temple, Marcel M.A.M. Mannens, Deborah J.G. Mackay and Andrea Riccio
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6 - Marco Castori, Luanna Barboni, Phillipa J. Duncan, Mauro Paradisi, Luigi Laino, Carmelilia Bernardo, David O. Robinson and Paolo Grammatico
Type: Article
| 2009
| Item not available on this server.
Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1 - A. Chase, B. Schultheis, S. Kreil, J. Baxter, C. Hidalgo-Curtis, A. Jones, L. Zhang, F.H. Grand, J.V. Melo and N.C. Cross
Type: Article
| 2009
| Item not available on this server.
Timing of acquisition of deletion 13 in plasma cell dyscrasias is dependent on genetic context - Laura Chiecchio, Gian Paolo Dagrada, Aahraf H. Ibrahim, Elizabet Dachs Cabanas, Rebbeca K.M. Protheroe, David M. Stockley, Kim H. Orchard, Nicholas C.P. Cross, Christine J. Harrison and Fiona M. Ross
Type: Article
| 2009
| Item not available on this server.
Frequent upregulation of MYC in plasma cell leukemia - Laura Chiecchio, Gian Paolo Dagrada, Helen E. White, Mark R. Townsend, Rebecca K.M. Protheroe, Kan Luk Cheung, David M. Stockley, Kim H. Orchard, Nicholas C.P. Cross, Christine J. Harrison and Fiona M. Ross
Type: Article
| 2009
| Item not available on this server.
Computational prediction of splicing regulatory elements shared by Tetrapoda organisms - Alexander Churbanov, Igor Vořechovský and Chindo Hicks
Type: Article
| 2009
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings - Helen Cox, Anneke Lucassen, Marlene Rio, Caroline Browne, Glenn Renforth, Lyndsey Craven, Tony Salmon and David I. Wilson
Type: Article
| 2009
| Item not available on this server.
BCR-ABL1-positive CML and BCR-ABL1-negative chronic myeloproliferative disorders: some common and contrasting features - N.C.P. Cross, G.Q. Daley, A.R. Green, T.P. Hughes, C. Jamieson, P. Manley, T. Mughal, D. Perrotti, J. Radich, R. Skoda, S. Soverini, W. Vainchenker, S. Verstovsek, J.-L. Villeval and J.M. Goldman
Type: Article
| 2009
| Item not available on this server.
Standardisation of molecular monitoring for chronic myeloid leukaemia - Nicholas C.P. Cross
Type: Article
| 2009
| Item not available on this server.
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage - Issa J. Dahabreh, Amy V. Jones, Michael Voulgarelis, Stavroula Giannouli, Christine Zoi, Christina Alafakis-Tzannatos, Marighoula Varla-Leftherioti, Haralampous Moutsopoulos, Dimitris Loukopoulos, Stelios Fotiou, Nicholas C.P. Cross and Katerina Zoi
Type: Article
| 2009
| Item not available on this server.
The powerful cardioprotective effects of urocortin and the corticotropin releasing hormone (CRH) family - Sean M. Davidson, Aneta E. Rybka and Paul A. Townsend
Type: Article
| 2009
| Item not available on this server.
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping - Petr Divina, Andrea Kvitkovicova, Emanuele Buratti and Igor Vorechovsky
Type: Article
| 2009
| Item not available on this server.
Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? - H. Dolk, J. Jentink, M. Loane, J. Morris, L.T. de Jong-van den Berg, E. Calzolari, I. Barisic, D. Wellesley, E. Garne, C. De Vigan, H. de Walle, M. Bakker, M. Gatt, K.K. Melve, M. O'Mahony, V. Nelen, Y. Gillerot, F. Rivieri, A. Pierini, A. Queisser-Luft, S. Poetzsch, D. Tucker, I. Portillo, A. Latos-Bielenska, J. Mejnartowicz, B. Doray and M.C. Addor
Type: Article
| 2009
| Item not available on this server.
Congenital abnormalities: data needed to establish causes - Elizabeth S. Draper, Judith Rankin, Ann Tonks, Patricia Boyd, Diana Wellesley, David Tucker and Judith Budd
Type: Article
| 2009
| Item not available on this server.
Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. - Emma Edwards, Catharina Yearwood, Julie Sillibourne, Diana Baralle and Diana Eccles
Type: Article
| 2009
| Item not available on this server.
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators - Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. Richard O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson and Nicola K. Ragge
Type: Article
| 2009
| Item not available on this server.
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis - Rodney D. Gilbert, Claire L.S. Turner, Jane Gibson, Paul S. Bass, Mushfequr R. Haq, Esta Cross, David J. Bunyan, Andrew R. Collins, William J. Tapper, Juliet C. Needell, Beverley Dell, Newton E. Morton, I. Karen Temple and David O. Robinson
Type: Article
| 2009
| Item not available on this server.
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart - Harinder K. Gill, Sian R. Parsons, Cosma Spalluto, AngelaF. Davies, Victoria J. Knorz, Clare E.G. Burlinson, Bee Ling Ng, Nigel P. Carter, Caroline Makie Ogilvie, David I. Wilson and Roland G. Roberts
Type: Article
| 2009
| Item not available on this server.
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties - Mary Glancy, Angela Barnicoat, Rajan Vijeratnam, Sharon de Souza, Joanne Gilmore, Shuwen Huang, Viv K. Maloney, N. Simon Thomas, David J. Bunyan, A. Jackson and John C.K. Barber
Type: Article
| 2009
| Item not available on this server.
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms - Francis H. Grand, Claire E. Hidalgo-Curtis, Thomas Ernst, Katerina Zoi, Chistine Zoi, Carolann McGuire, Sebastian Kreil, Amy Jones, Joannah Score, Georgia Metzgeroth, David Oscier, Andrew Hall, Christian Brandts, Hubert Serve, Andrew Reiter, Andrew J. Chase and Nicholas C.P. Cross
Type: Article
| 2009
| Item not available on this server.
Chronological expression of ciliated bronchial epithelium 1 during pulmonary development - H.M. Haitchi, H. Yoshisue, A. Ribbene, S.J. Wilson, J.W. Holloway, F. Bucchieri, N.A. Hanley, D.I. Wilson, G. Zummo, S.T. Holgate and D.E. Davies
Type: Article
| 2009
| Item not available on this server.
Induction of a disintegrin and metalloprotease 33 during embryonic lung development and the influence of IL-13 or maternal allergy - Hans Michael Haitchi, David J.P. Bassett, Fabio Bucchieri, Xiufeng Gao, Robert M. Powell, Neil A. Hanley, David I. Wilson, Stephen T. Holgate and Donna E. Davies
Type: Article
| 2009
| Item not available on this server.
Abnormalities affecting tyrosine kinase
signalling in atypical myeloproliferative
disorders - Claire Hidalgo-Curtis
Type: Thesis
| 2009
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms - Amy V. Jones, Andrew Chase, Richard T. Silver, David Oscier, Katerina Zoi, Y. Lynn Wang, Holger Cario, Heike L. Pahl, Andrew Collins, Andreas Reiter, Francis Grand and Nicholas C.P. Cross
Type: Article
| 2009
| Item not available on this server.
Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report - Alan P. Kenny, Nancy A. Crimmins, Deborah J.G. Mackay, Robert J. Hopkin, Kevin E. Bove and Mike A. Leonis
Type: Article
| 2009
| Item not available on this server.
Effect of beta2-adrenergic receptor polymorphism in asthma control of patients receiving combination treatment - S.H. Kim, Y.M. Ye, G.Y. Hur, H.Y. Lee, Y.K. Jee, S.H. Lee, J.W. Holloway and H.S. Park
Type: Article
| 2009
| Item not available on this server.
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype - T. Kleefstra, W.A. van Zelst-Stams, W.M. Nillesen, V. Cormier-Daire, G. Houge, N. Foulds, M. van Dooren, M.H. Willemsen, R. Pfundt, A. Turner, M. Wilson, J. McGaughran, A. Rauch, M. Zenker, M.P. Adam, M. Innes, C. Davies, A. Gonzalez-Meneses Lopez, R. Casalone, A. Weber, L.A. Brueton, A. Delicado Navarro, M. Palomares Bralo, H. Venselaar, S.P.A. Stegmann, H.G. Yntema, H. van Bokhoven and H.G. Brunner
Type: Article
| 2009
| Item not available on this server.
Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness - Gerard H. Koppelman, Deborah A. Meyers, Timothy D. Howard, S. Lilly Zheng, Greg A. Hawkins, Elizabeth J. Ampleford, Jianfeng Xu, Henk Koning, Marcel Bruinenberg, Ilja M. Nolte, Cleo C. van Diemen, H. Marike Boezen, Wim Timens, Paul A. Whittaker, O. Colin Stine, Sheila J. Barton, John W. Holloway, Stephen T. Holgate, Penelope E. Graves, Fernando D. Martinez, Antoon J. van Oosterhout, Eugene R. Bleecker and Dirkje S. Postma
Type: Article
| 2009
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
A high-throughput candidate gene mutation screen in lymphoproliferative and myeloproliferative neoplasias - Sebastian Kreil, Andreas Hochhaus, Nicholas C.P. Cross and Andrew Chase
Type: Article
| 2009
| Item not available on this server.
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1 - A.C.V. Krepischi-Santos, D. Rajan, I.K. Temple, V. Shrubb, J.A. Crolla, S. Huang, S. Beal, P.A. Otto, N.P. Carter, A.M. Vianna-Morgante and C. Rosenberg
Type: Article
| 2009
| Item not available on this server.
Mechanisms of action and clinical implications of cardiac urocortin: A journey from the heart to the systemic circulation, with a stopover in the mitochondria - Erlene Kuizon, Eve G. Pearce, Sarah G. Bailey, Carol Chen-Scarabelli, Zhaokan Yuan, Kadija Abounit, Roy B. McCauley, Louis Saravolatz, Giuseppe Faggian, Alessandro Mazzucco, Paul A. Townsend and Tiziano M. Scarabelli
Type: Article
| 2009
| Item not available on this server.
Large-scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing - R.W. Labrum, S. Rajakulendran, T.D. Graves, L.H. Eunson, R. Bevan, M.G. Sweeney, S.R. Hammans, N. Tubridy, T. Britton, L.J. Carr, J.R. Ostergaard, C.R. Kennedy, A. Al-Memar, D.M. Kullmann, S. Schorge, I.K. Temple, M.B. Davis and M.G. Hanna
Type: Article
| 2009
| Item not available on this server.
Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution - C.M. Lindgren, I.M. Heid, J.C. Randall, C. Lamina, V. Steinthorsdottir, L. Qi, E.K. Speliotes, G. Thorleifsson, C.J. Willer, B.M. Herrera, A.U. Jackson, N. Lim, P. Scheet, N. Soranzo, N. Amin, Y.S. Aulchenko, J.C. Chambers, A. Drong, J. Luan, H.N. Lyon, F. Rivadeneira, S. Sanna, N.J. Timpson, M.C. Zillikens, J.H. Zhao, P. Almgren, S. Bandinelli, A.J. Bennett, R.N. Bergman, L.L. Bonnycastle, S.J. Bumpstead, S.J. Chanock, L. Cherkas, P. Chines, L. Coin, C. Cooper, G. Crawford, A. Doering, A. Dominiczak, A.S. Doney, S. Ebrahim, P. Elliott, M.R. Erdos, K. Estrada, L. Ferrucci, G. Fischer, N.G. Forouhi, C. Gieger, H. Grallert and J.W. Holloway
Type: Article
| 2009
The SERPING1 gene and age-related macular degeneration – Authors' reply - A.J. Lotery, A.J. Cree, E.M. Stone and S. Ennis
Type: Article
| 2009
| Item not available on this server.
Phenotype and genotype in 17 patients with Goltz-Gorlin Syndrome - S.M. Maas, P.M. Lombardi, A.J. Van Essen, E.L. Wakeling, B. Castle, I.K. Temple, V.K. Kumar, K. Writzl and R.C. Hennekam
Type: Article
| 2009
| Item not available on this server.
The extracellular-matrix protein matrilin 2 participates in peripheral nerve regeneration. - Dmitry Malin, Eva Sonnenberg-Riethmacher, Daria Guseva, Raimund Wagener, Attila Aszódi, Andrey Irintchev and Dieter Riethmacher
Type: Article
| 2009
| Item not available on this server.
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail - David Meili, Jana Kralovicova, Julian Zagalak, Luisa Bonafe, Laura Fiori, Nenad Blau, Beat Thony and Igor Vorechovsky
Type: Article
| 2009
| Item not available on this server.
A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH - C.L. Mercer, C.E. Browne, J.C.K. Barber, V.K. Maloney, S. Huang, N.S. Thomas and N. Foulds
Type: Article
| 2009
| Item not available on this server.
Derivation of a novel undifferentiated human fetal phenotype in serum-free cultures with BMP-2 - S.H. Mirmalek-Sani, P.J. Stokes, R.S. Tare, E.J. Ralph, S. Inglis, N.A. Hanley, F.D. Houghton and R.O. Oreffo
Type: Article
| 2009
| Item not available on this server.
Massive ovarian oedema: an unusual abdominal mass in infancy - Rebecca J. Moon, Alice Mears, Lara J. Kitteringham, Peter Gonda, Janice A. Kohler and Justin H. Davies
Type: Article
| 2009
| Item not available on this server.
Harmonization of molecular monitoring of CML therapy in Europe - M.C. Müller, N.C.P. Cross, P. Erben, T. Schenk, B. Hanfstein, T. Ernst, R. Hehlmann, S. Branford, G. Saglio and A. Houchhaus
Type: Article
| 2009
| Item not available on this server.
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders - H.M. Ozgen, E. van Daalen, P.F. Bolton, V.K. Maloney, S. Huang, L. Cresswell, M.J. van den Boogaard, M.J. Eleveld, R. van 't Slot, R. Hochstenbach, F.A. Beemer, M. Barrow, J.C.K. Barber and M. Poot
Type: Article
| 2009
| Item not available on this server.
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation - Heval M. Ozgen, Wouter G. Staal, John C. Barber, Maretha V. de Jonge, Marc J. Eleveld, Frits A. Beemer, Ron Hochstenbach and Martin Poot
Type: Article
| 2009
| Item not available on this server.
Mortality in adult intensive care patients with severe systemic inflammatory response symdroles is strongly associated with the hypoimmune TNF-238A polymorphism - J.V. Pappachan, T.G. Coulson, N.J.A. Child, D.J. Markham, S.M. Nour, M.C.K. Pulletz, M.J. Rose-Zerilli, K. de Courcey-Golder, S.J. Barton, I.A. Yang and J.W. Holloway
Type: Article
| 2009
| Item not available on this server.
Methylation of tumour suppressor gene promoters in the presence and absence of transcriptional silencing in high hyperdiploid acute lymphoblastic leukaemia - Kajsa Paulsson, Qian An, Anthony V. Moorman, Helen Parker, Gael Molloy, Teresa Davies, Mike Griffiths, Fiona M. Ross, Julie Irving, Christine J. Harrison, Bryan D. Young and Jon C. Strefford
Type: Article
| 2009
| Item not available on this server.
Parental attitude to participating in long-term follow-up studies of their children’s health after in utero diagnosis of abnormalities - L. Ramsay, D.T. Howe and D. Wellesley
Type: Article
| 2009
| Item not available on this server.
Low U1 snRNP dependence at the NF1 exon 29 donor site - Michael Raponi, Emanuele Buratti, Elisa Dassie, Meena Upadhyaya and Diane Baralle
Type: Article
| 2009
| Item not available on this server.
Molecular basis of myelodysplastic/myeloproliferative neoplasms - Andreas Reiter, Rosangela Invernizzi, Nicholas C.P. Cross and Mario Cazzola
Type: Article
| 2009
| Item not available on this server.
Copy-number variation genotyping of GSTT1 and GSTM1 gene deletions by real-time PCR - M.J. Rose-Zerilli, S.J. Barton, A.J. Henderson, S.O. Shaheen and J.W. Holloway
Type: Article
| 2009
| Item not available on this server.
Genetics of asthma and bronchial hyperresponsiveness - Matthew J. Rose-Zerilli, Stephen T. Holgate and John Holloway
Type: Book Section
| 2009
| Springer
| Item not available on this server.
Mortality in women with Turner syndrome in Great Britain: a national cohort study - Minouk J. Schoemaker, Anthony J. Swerdlow, Craig D. Higgins, Alan F. Wright and Patricia A. Jacobs
Type: Article
| 2009
| Item not available on this server.
Detection and molecular monitoring of FIP1L1-PDGFRA-positive diseases by analysis of patient-specific genomic DNA fusion junctions - J. Score, C. Walz, J.V. Jovanovic, A.V. Jones, K. Waghorn, C. Hidalgo-Curtis, F. Lin, D. Grimwade, F. Grand, A. Reiter and N.C.P. Cross
Type: Article
| 2009
| Item not available on this server.
Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3 - J. Self, C. Mercer, E.M. Boon, M. Murugavel, F. Shawkat, S. Hammans, P. Hodgkins, H. Griffiths and A. Lotery
Type: Article
| 2009
| Item not available on this server.
Type: Thesis
| 2009
Thioflavin S (NSC71948) interferes with Bcl-2-associated athanogene (BAG-1)-mediated protein-protein interactions - Adam Sharp, Simon J. Crabb, Peter W.M. Johnson, Angela Hague, Ramsey Cutress, Paul A. Townsend, A. Ganesan and Graham Packham
Type: Article
| 2009
| Item not available on this server.
Short peptides derived from the BAG-1 C-terminus inhibit the interaction between BAG-1 and HSC70 and decrease breast cancer cell growth - Adam Sharp, Ramsey I. Cutress, Peter W.M. Johnson, Graham Packham and Paul A. Townsend
Type: Article
| 2009
| Item not available on this server.
Acute myeloid leukaemia with associated eosinophilia: justification for FIP1L1-PDGFRA screening in cases lacking the CBFB-MYH11 fusion gene - Youssef Sorour, Christopher D. Dally, John A. Snowden, Nicholas C. Cross and John T. Reilly
Type: Article
| 2009
| Item not available on this server.
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q - Katrina Tatton-Brown, Daniela T. Pilz, Karen Helen Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Chistsa Lese-Martin, Susan Tomkins, Paula Waits, Nazneen Rahman and Meriel McEntagart
Type: Article
| 2009
| Item not available on this server.
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature - N. Simon Thomas, John F. Harvey, David J. Bunyan, Julia Rankin, Giedre Grigelioniene, Damien L. Bruno, Tiong Y. Tan, Susan Tomkins and Robert Hastings
Type: Article
| 2009
| Item not available on this server.
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(3;11) (p16.2;p15.4) - N. Simon Thomas, Viv Maloney, Victoria Bryant, Shuwen Huang, Carole Brewer, Katherine Lachlan and Patricia A. Jacobs
Type: Article
| 2009
| Item not available on this server.
DeltaNp73 regulates neuronal survival in vivo - Fadel Tissir, Aurélia Ravni, Younès Achouri, Dieter Riethmacher, Gundela Meyer and Andre M. Goffinet
Type: Article
| 2009
| Item not available on this server.
Clinical evidence for a graft-versus-tumour effect following allogeneic HSCT for t(8;13) atypical myeloproliferative disorder - W. Townsend, N.C.P. Cross, K. Waghorn, K. Somana, A. Ramsay, K. Thomson and K. Peggs
Type: Article
| 2009
| Item not available on this server.
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with marfan syndrome or a related fbrillinopathy - C.L.S. Turner, H. Emery, A.L. Collins, R.J. Howarth, C.M. Yearwood, E. Cross, P.J. Duncan, D.J. Bunyan, J.F. Harvey and N.C. Foulds
Type: Article
| 2009
| Item not available on this server.
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation - N. Henriette Uhlenhaut, Susanne Jacob, Katrin Anlag, Tobias Eisenberger, Ryohei Sekido, Jana Kress, Anna-Corina Treier, Claudia Klugmann, Christian Klasen, Nadine I. Holter, Dieter Riethmacher, Günther Schütz, Austin J. Cooney, Robin Lovell-Badge and Mathias Treier
Type: Article
| 2009
| Item not available on this server.
Thyroid function during coronary surgery with and without cardiopulmonary bypass - Theodore Velissaris, Augustine T.M. Tang, Peter J. Wood, David A. Hett and Sunil K. Ohri
Type: Article
| 2009
| Item not available on this server.
N-(pyrrole-2-carboxyl) glycine a diagnostic marker of hyperprolinaemia type II: Mass spectra of trimethylsilyl derivatives - Valerie Walker and Graham A. Mills
Type: Article
| 2009
| Item not available on this server.
3-Penten-2-one, a novel aldehyde adduct, is a biomarker for increased acetaldehyde in urine - Valerie Walker, Graham A. Mills and Elizabeth M. Standsbridge
Type: Article
| 2009
| Item not available on this server.
The molecular anatomy of the FIP1L1-PDGFRA fusion gene - C. Walz, J. Score, J. Mix, D. Cilloni, C. Roche-Lestienne, R.F. Yeh, J.L. Wiemels, E. Ottaviani, P. Erben, A. Hochhaus, M. Baccarani, D. Grimwade, C. Preudhomme, J. Apperley, G. Martinelli, G. Saglio, N.C. Cross and A. Reiter
Type: Article
| 2009
| Item not available on this server.
Identification of a MY018A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2) - Christoph Walz, Claudia Haferlach, Annette Hänel, Georgia Metzgeroth, Phillip Erben, Darko Gosenca, Andreas Hochhaus, Nicholas C.P. Cross and Andreas Reiter
Type: Article
| 2009
| Item not available on this server.
Salivary steroid assays - research or routine? - Peter Wood
Type: Article
| 2009
| Item not available on this server.
Proteomic analysis of archival breast cancer serum - Bashar A. Zeidan, Ramsey I. Cutress, Nick Murray, Gary R. Coulton, Claire Hastie, Graham Packham and Paul A. Townsend
Type: Article
| 2009
| Item not available on this server.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome - B.W. van Bon, H.C. Mefford, B. Menten, A.J. Sharp, W.M. Nillesen, J.W. Innis, T.J. de Ravel, C.L. Mercer, M. Fichera, H. Steward, L.E. Connell, K. Ounap, K. Lachlan, B. Castle, N. Van der An, C. van Ravenswaaij, M.A. Nobrego, C. Serra-Juhe, I. Simonic, N. de Leeuw, R. Pfundt, E.M. Bongers, C. Baker, P. Finnemore, S. Huang, V.K. Maloney, J.A. Crolla, M. van Kalmthout, M. Elia, G. Vandeweyer, J.P. Fryns, S. Janssens, N. Foulds, S. Reitano, K. Smith, S. Parkel, B. Loeys, C.G. Woods, A. Oostra, F. Speleman, A.C. Pereira, A. Jurg, L. Willatt, S.J. Knight, J.R. Vermeesch, C. Romano, J.C. Barber, G. Mortier, L.A. Perez-Jurado, F. Kooy, H.G. Brunner, E.E. Eichler, T. Kleefstra and B.B. de Vries
Type: Article
| 2009
| Item not available on this server.