Browse by Divisions pre August 2011

Baralle, D., Mattocks, C., Lees, M., Ffrench-Constant, C. and Whittaker, J. (2001) Neurofibromatosis-Noonan Syndrome (NFNS) - A molecular and clinical study. Journal of Medical Genetics, 38, pp.S66.

Baralle, D., Mattocks, C., Lees, M., Ffrench-Constant, C. and Whittaker, J. (2001) Neurofibromatosis-Noonan Syndrome (NFNS): a molecular and clinical study. Journal of Medical Genetics, 38, pp.S66.

Baralle, Diana (2001) Chromosomal aberrations, subtelomeric defects, and mental retardation. Lancet, 358, (9275), 7-8.

Barber, J., Hollox, E.J. and Armour, J.A.L. (2001) Amplification of DEFB2 confirmed by MAPH in euchromatic variants of 8p23. Journal of Medical Genetics, 38, pp.S45.

Barber, J., Hollox, E.J. and Armour, J.A.L. (2001) Amplification of DEFB2 confirmed by MAPH in euchromatic variants of 8p23.1. Journal of Medical Genetics, 38, pp.S45.

Birtwistle, J. and Kendrick, T. (2001) The psychological aspects of bereavement. International Journal of Psychiatry in Clinical Practice, 7, (3), 91-95.

Britsch, S., Goerich, D.E., Riethmacher, D., Peirano, R.I., Rossner, M., Nave, K.A., Birchmeier, C. and Wegner, M. (2001) The transcription factor Sox10 is a key regulator of peripheral glial development17. Genes & Development, 15, (1), 66-78. (doi:10.1101/gad.186601).

Browne, C., Dennis, N.R., Temple, I.K. and Joyce, C.A. (2001) High resolution cytogenetic analysis: a more cost effective approach to subtelomere screening? Journal of Medical Genetics, 38, pp.S16.

Bruce, Maggie, Peacock, Janet, Iverson, Angela and Wolfe, Charles (2001) Hepatitis B and HIV antenatal screening 2: user survey. British Journal of Midwifery, 9, (10), 640-645.

Bryant, J., Clegg, A. and Milne, R. (2001) Systematic review of immunomodulatory drugs for the treatment of people with multiple sclerosis: is there good quality evidence on effectiveness and cost? Journal of Neurology, Neurosurgery, and Psychiatry, 70, (5), 574-579. (doi:10.1136/jnnp.70.5.574).

Campbell, Fiona M., Ashburn, Ann M., Pickering, Ruth M. and Burnett, Malcolm (2001) Head and pelvic movements during a dynamic reaching task in sitting: implications for physical therapists. Archives of Physical Medicine and Rehabilitation, 82, (12), 1655-1660. (doi:10.1053/apmr.2001.26818).

Carter, M., Ross, F.M., Nicholson, J.C., Allibone, R., Balaji, V., Crolla, J.A., Gilbertson, R.J., Perry, R.H., Walker, D.A. and Ellison, D.W. (2001) Analysis of ependymomas using comparative genomic hybridisation. British Journal of Cancer, 85, (S1), p.108. (doi:10.1054/bjoc.2001.1918).

Clegg, A., Bryant, J., Nicholson, T., McIntyre, L., De Broe, S., Gerard, K. and Waugh, N. (2001) Clinicial and cost-effectiveness of donepezil, rivastigmine and galantamine for Alzheimer's disease: a rapid and systematic review. Health Technology Assessment, 5, (1), 1-137. (doi:10.3310/hta5010). (PMID:11262420).

Coleman, P.G. and Mills, M.A. (2001) Philosophical and spiritual perspectives on dementia. In, Cantley, Caroline (ed.) A Handbook of Dementia Care. Buckingham, UK, Open University Press, 62-76.

Crolla, J.A. and Van Heyningen, V. (2001) FISH studies in patients with aniridia reveals > 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions. American Journal of Human Genetics, 69, (4), p.232.

Dalrymple-Hay, Malcolm J.R., Dawkins, Sam, Pack, Louise, Deakin, Charles D., Sheppard, Stuart, Ohri, Sunil K., Haw, Marcus P., Livesey, Steven A. and Monro, James L. (2001) Autotransfusion decreases blood usage following cardiac surgery - a prospective randomized trial. Cardiovascular Surgery, 9, (2), 184-187. (doi:10.1016/S0967-2109(00)00100-9).

Daly, E., Moore, C.J., Schmitz, N., Jacobs, P., Davies, K., Murphy, K.C. and Murphy, D.G.M. (2001) Premutation expansion of CGG triplet repeats affects brain: a study of male carriers of Fragile X Syndrome. Journal of Medical Genetics, 38, pp.S40.

Davies, J.H., Barton, J.S., Gregory, J.W. and Mills, C. (2001) Infantile McCune-Albright syndrome. Pediatric dermatology, 18, (6), 504-506. (doi:10.1046/j.1525-1470.2001.1862003.x).

Day, Ian N. M. and Wilson, David I. (2001) Science, medicine, and the future: Genetics and cardiovascular risk. British Medical Journal, 323, (7326), 1409-1412. (doi:10.1136/bmj.323.7326.1409).

De la Fuente, J., Merx, K., Steer, E.J., Muller, M., Szydlo, R.M., Maywald, O., Berger, U., Hehlmann, R., Goldman, J.M., Cross, N.C., Melo, J.V. and Hochhaus, A. (2001) ABL-BCR expression does not correlate with deletions on the derivative chromosome 9 or survival in chronic myeloid leukemia. Blood, 98, (9), 2879-2880.

Deakin, C.D., Sado, D.M., Petley, G.W. and Clewlow, F. (2001) What is the optimal paddle force for defibrillation? (presented at 18th Spring Meeting of the Association of Cardiothoracic Anaesthetists: Selected abstracts Cambridge, UK. 22 June 2001). Critical Care, 5, ((Suppl C):4) (doi:10.1186/cc1033).

Dimitriou, G., Greenough, A., Alvares, B. R., Shute, M., Karani, J. and Peacock, J. L. (2001) Chest radiograph lung area and oxygenation optimization on transfer to HFO. British Journal of Intensive Care, 11, 78-82.

Dopson, Sue, Locock, Louise, Chambers, David and Gabbay, John (2001) Implementation of evidence-based medicine: evaluation of the Promoting Action on Clinical Effectiveness programme. Journal of Health Services Research and Policy, 6, (1), 23-31. (doi:10.1258/1355819011927161).

Elanko, Navaratnam, Sibbring, Julie S., Metcalfe, Kay A., Clayton-Smith, Jill, Donnai, Dian, Temple, I. Karen, Wall, Steven A. and Wilkie, Andrew O.M. (2001) A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Human Mutation, 18, (6), 535-541. (doi:10.1002/humu.1230).

Ennis, S., Collins, A., Murray, A., Brightwell, G. and Morton, N.E. (2001) LD, FRAX and sequence-based maps. American Journal of Human Genetics, 69, (4), supplement 1, 466.

Ennis, Sarah, Maniatis, Nikolas and Collins, Andrew (2001) Allelic association and disease mapping. Briefings in Bioinformatics, 2, (4), 375-387. (doi:10.1093/bib/2.4.375).

Ennis, Sarah, Murray, Anna and Morton, Newton E. (2001) Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect? Human Mutation, 18, (1), 61-69. (doi:10.1002/humu.1150).

Farrant, R.D., Walker, V., Mills, G.A., Mellor, J.M. and Langley, G.J. (2001) Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid: increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. Journal of Biological Chemistry, 276, (18), 15107-15116. (doi:10.1074/jbc.M010860200).

Ferlie, E., Gabbay, J., Fitzgerald, L., Locock, L. and Dopson, S. (2001) Evidence-based medicine and organisational change: an overview of some recent qualitative research. In, Ashburner, L. (ed.) Organisational behaviour and organisational studies in health care: Reflections on the future. Basingstoke, UK, Palgrave Macmillan, 18-42.

Fisher, A., Thomas, S., Joyce, C., Strike, P. and Temple, K. (2001) A patient with growth retardation and a duplication of the Beckwith Wiedemann critical region of maternal origin. Journal of Medical Genetics, 38, pp.S19.

Flavell, D., Talmud, P.J., Day, I.N.M., Miller, G. and Humphries, S.E. (2001) Gene: environment interactions in determination of risk of coronary artery disease. Journal of Medical Genetics, 38, pp.S12.

Forsti, Asta, Luo, Liping, Vorechovsky, Igor, Soderberg, Magnus, Lichtenstein, Paul and Hemminki, Kari (2001) Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer. Carcinogenesis, 22, (1), 27-33. (doi:10.1093/carcin/22.1.27).

Gabbay, John, Kerridge, Lynn, Milne, Ruairidh and Stein, Ken (2001) The NHS R&D health technology assessment programme. In, Baker, Mark R. and Kirk, Simon (eds.) Research and Development for the NHS: Evidence, Evaluation and Effectiveness. Abingdon, UK, Radcliffe Publishing, 141-162.

Gatling, W., Guzder, R.N., Turnbull, J.C., Budd, S. and Mullee, M. (2001) The Poole Diabetes Study: how many cases of Type 2 diabetes are diagnosed each year during normal health care in a defined community? Diabetes Research and Clinical Practice, 53, (2), 107-112. (doi:10.1016/S0168-8227(01)00245-5).

Gloyn, A.L., Ellard, S., Shield, J.P.H., Temple, I.K., Mackay, D.J.G., Barrett, T. and Hattersley, A.T. (2001) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes in European cases of neonatal diabetes. American Journal of Human Genetics, 69, (4), p.607.

Goldstein, Steve A.N., Bockenhauer, Detlef, O'Kelly, Ita and Zilberberg, Noam (2001) Potassium leak channels and the KCNK family of two-P-domain subunits. Nature Reviews Neuroscience, 2, (3), 175-184. (doi:10.1038/35058574).

Gregson, R.K., Petley, G.W., Yonge, C., Peebles, A., Browne, M., Clough, J.B. and Warner, J.O. (2001) Development and assessment of a system to quantify paediatric chest physiotherapy techniques. In, 2001 Congress of the Chartered Society of Physiotherapy, Birmingham, UK, 2001. , 23.

Gupta, S., Chimbira, W., Watkins, S., Crawford, H., Marden, B., Legg, J. and Marsh, M.J. (2001) Acute lung injury in paediatric intensive care: course and outcome. Critical Care, 5, (1) (doi:10.1186/cc1301).

Hartness, M.E., Lewis, A., Searle, G.J., O'Kelly, I., Peers, C. and Kemp, P.J. (2001) Combined antisense and pharmacological approaches implicate hTASK as an airway O(2) sensing K(+) channel. Journal of Biological Chemistry, 276, (28), 26499-26508. (doi:10.1074/jbc.M010357200).

Howie, N.M., Trigkas, T.K., Cruchley, A.T., Wertz, P.W., Squier, C.A. and Williams, D.M. (2001) Short-term exposure to alcohol increases the permeability of human oral mucosa. Oral Diseases, 7, (6), 349-354. (doi:10.1034/j.1601-0825.2001.00731.x).

Kemp, P., Hartness, M., Lewis, A., O'Kelly, I. and Peers, C. (2001) Antisense depletion of a specific potassium channel in H146 cells indicates that hTASK-1 is an airway oxygen sensing channel. FASEB Journal, 15, (5), pp.A817.

Kemp, P., Lewis, A., O'Kelly, I. and Peers, C. (2001) Regulation of K+ currents in a human neuroepithelial body-derived cell line suggests that hTASK is an airway O-2-sensitive K+ channel. FASEB Journal, 15, (5), pp.A817.

Kemp, P.J., Searle, G.J., O'Kelly, I. and Peers, C. (2001) Dynamic down-regulation of acute oxygen sensing in an model of airway neuroepithelial bodies by chronic hypoxia is independent of K+ channel expression. FASEB Journal, 15, (5), pp.A817.

Lewis, J.L., Chinswangwatanakul, W., Zheng, B., Marley, S.B., Nguyen, D.X., Cross, N.C., Banerji, L., Glassford, J., Thomas, N.S., Goldman, J.M., Lam, E.W. and Gordon, M.Y. (2001) The influence of INK4 proteins on growth and self-renewal kinetics of hematopoietic progenitor cells. Blood, 97, (9), 2604-2610.

Locock, Louise, Dopson, Sue, Chambers, David and Gabbay, John (2001) Understanding the role of opinion leaders in improving clinical effectiveness. Social Science & Medicine, 53, (6), 745-757. (doi:10.1016/S0277-9536(00)00387-7).

Lotery, A.J., Malik, A., Shami, S.A., Sindhi, M., Chohan, B., Maqbool, C., Moore, P.A., Denton, M.J. and Stone, E.M. (2001) CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genetics, 22, (3), 163 - 169. (doi:10.1076/opge.22.3.163.2222).

Mattocks, C., Baralle, D., Ffrench-Constant, C., Tarpey, P., Bobrow, M. and Whittaker, J. (2001) Development of a diagnostic service for neurofibromatosis type 1 facilitated by automated data analysis. Journal of Medical Genetics, 38, pp.S70.

Moore, C., Daly, E.M., Tassone, F., Schmitz, N., Hagerman, P., Jacobs, P., Davies, K., Murphy, K.C. and Murphy, D.G.M. (2001) Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome. Journal of Medical Genetics, 38, pp.S39.

Nicholson, Tricia, McGuire, Alistair and Milne, Ruairidh (2001) Cost-utility of enoxaparin compared with unfractionated heparin in unstable coronary artery disease. BMC Cardiovascular Disorders, 1, (1)

Noël, B., Palmer, K.T., Griffin, M.J., Syddall, H., Pannett, H.B., Cooper, C. and Coggon, D. (2001) Correspondence. Raynaud's phenomenon in workers exposed to vibration. Occupational and Environmental Medicine, 58, (4), 279-280. (doi:10.1136/oem.58.4.279).

O'Kelly, I., Peers, C. and Kemp, P.J. (2001) NADPH oxidase does not account fully for O2-sensing in model airway chemoreceptor cells. Biochemical and Biophysical Research Communications, 283, (5), 1131-1134. (doi:10.1006/bbrc.2001.4919).

Oliver, Sandy, Milne, Ruairidh, Bradburn, Jane, Buchanan, Phyll, Kerridge, Lynn, Walley, Tom and Gabbay, John (2001) Involving consumers in a needs-led research programme: a pilot project. Health expectations, 4, (1), 18-28. (doi:10.1111/j.1369-7625.2001.00113.x).

Oliver, Sandy, Milne, Ruairidh, Bradburn, Jane D., Buchanan, Phyll, Kerridge, Lynn, Walley, Tom and Gabbay, John (2001) Investigating consumer perspectives on evaluating health technologies. Evaluation, 7, (4), 468-486. (doi:10.1177/13563890122209847).

Patel, M.P., Cruchley, A.T., Coleman, D.C., Swai, H., Braden, M. and Williams, D.M. (2001) A polymeric system for the intra-oral delivery of an anti-fungal agent. Biomaterials, 22, (17), 2319-2324. (doi:10.1016/S0142-9612(00)00367-7).

Peveler, Robert and Kendrick, Tony (2001) Treatment delivery and guidelines in primary care: Depression and public health. British Medical Bulletin, 57, (1), 193-206. (doi:10.1093/bmb/57.1.193).

Phillips, H.M., Renforth, G., Jackson, M., Clement-Jones, M., Craven, L., Havarani, B. and Wilson, D.I. (2001) Characterisation of a novel gene on distal 11q as a potential candidate for Hypoplastic Left Heart Syndrome. American Journal of Human Genetics, 69, (4), p.618.

Raftery, J. (2001) NICE: faster access to modern treatments? Analysis of guidance on health technologies. British Medical Journal, 323, (7324), 1300-1303. (doi:10.1136/bmj.323.7324.1300).

Rao, D.C. and Province, Michael A (2001) Genetic Dissection of Complex Traits, San Diego, USA, Academic Press, 583pp. (Advances in Genetics).

Robert, G., Stevens, A. and Gabbay, J. (2001) Identifying new healthcare technologies. In, Stevens, Andrew J., Abrams, Keith R., Brazier, John, Fitzpatrick, Ray and Lilford, Richard (eds.) The Advanced Handbook of Methods in Evidence Based Healthcare. , SAGE, 451-470.

Robinson, D., McMullan, T.F.W., Tyers, A.G., Crolla, J.A. and Carter, N. (2001) A search for genes for congenital bilateral isolated ptosis. Journal of Medical Genetics, 38, pp.S62.

Royle, Jane and Oliver, Sandy (2001) Recruiting and supporting consumers in prioritising research topics. At 9th International Cochrane Colloquium, Lyon, France, 09 - 13 Oct 2001.

Salas-Cortes, L., Hanley, N., Fellous, M. and McElreavey, K. (2001) Identification of human SRY-interacting factors. American Journal of Human Genetics, 69, (4), p.342.

Schock, Bettina C., Sweet, David G., Ennis, Madeleine, Warner, Jane A., Young, Ian S. and Halliday, Henry L. (2001) Oxidative stress and increased type-IV collagenase levels in bronchoalveolar lavage fluid from newborn babies. Pediatric Research, 50, (1), 29-33. (doi:10.1203/00006450-200107000-00008).

Selvaratnam, L., Cruchley, A.T., Navsaria, H., Wertz, P.W., Hagi-Pavli, E.P., Leigh, I.M., Squier, C.A. and Williams, D.M. (2001) Permeability barrier properties of oral keratinocyte cultures: a model of intact human oral mucosa. Oral Diseases, 7, (4), 252-258. (doi:10.1034/j.1601-0825.2001.70409.x).

Sharp, A.J., Robinson, D.O. and Jacobs, P.A. (2001) Molecular and cytogenetic studies of spreading of X inactivation in four X;autosome translocations. American Journal of Human Genetics, 69, (4), p.215.

Sillibourne, J. and Robinson, D.O. (2001) Oculopharyngeal muscular dystrophy: not all mutations are pure (GCG) expansions. Journal of Medical Genetics, 38, pp.S60.

Simmonds, R., Sque, M., Goddard, J., Tullett, R. and Mount, J. (2001) Improving access to palliative care services for ethnic minority groups. A report of a study funded by Community Fund. UK, Community Fund, 103pp. (Lottery Money Making a Difference).

Simons, L., Mynors-Wallis, L., Pickering, R., Gray, A., Brooking, J., Thompson, C. and Kendrick, T. (2001) A randomized controlled trial of problem solving for anxiety, depression and life difficulties by community psychiatric nurses among general practice patients: Background and method. Primary Care Psychiatry, 7, (4), 129-135.

Sonnenberg-Riethmacher, Eva, Miehe, Michaela, Stolt, Claus C., Goerich, Derk E., Wegner, Michael and Riethmacher, Dieter (2001) Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10. Mechanisms of Development, 109, (2), 253-265. (doi:10.1016/S0925-4773(01)00547-0).

Steer, E.J., Demiroglu, A., Heath, C., Pourgourides, E., Taylor, K., Bentley, M., Allen, S.L., Koduru, P., Brody, J.P., Hawson, G., Rodwell, R., Doody, M.L., Carnicero, F., Reiter, A., Goldman, J.M., Melo, J.V. and Cross, N.C.P. (2001) The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood, 98, (11), pp.468A.

Sumption, N.D. and Barber, J.C. (2001) A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities. Journal of Medical Genetics, 38, (2), 125-127. (doi:10.1136/jmg.38.2.125).

Sánchez-Elsner, Tilman, Botella, Luisa M., Velasco, Beatriz, Corbí, Angel, Attisano, Liliana and Bernabéu, Carmelo (2001) Synergistic cooperation between hypoxia and transforming growth factor-beta pathways on human vascular endothelial growth factor gene expression. Journal of Biological Chemistry, 276, (42), 38527-38535. (doi:10.1074/jbc.M104536200).

Tang, A.T.M., Thomas, R., Knott, J., Nanson, J., Ohri, S.K. and Smith, D. (2001) Beating heart coronary surgery and renal function: a prospective randomised study (Presented at 18th Spring Meeting of the Association of Cardiothoracic Anaesthetists: Selected abstracts, Cambridge, UK. 22 June 2001). Critical Care, 5, (Suppl C: 3) (doi:10.1186/cc1032).

Temple, I.K., Mackay, D.J.G., Coupe, A.M., Cave, H., Polak, M., Siebert, R., Barber, J.C.K., Robinson, D.O. and Shield, J.P.H. (2001) Transient Neonatal Diabetes: the 6q24 phenotype. American Journal of Human Genetics, 69, (4), p.194.

Thomas, N.S. and Huson, S.M. (2001) Atypical phenotype in a female with a large Xp deletion. American Journal of Medical Genetics Part A, 104, (1), 81-83. (doi:10.1002/ajmg.1583).

Tischkowitz, M., Morgan, N.V., Hodgson, S.V., Eddy, C., Ball, S., Langabeer, S., Vorechovsky, I., Grimwade, D. and Mathew, C. (2001) Mutation analysis of the Fanconi Anaemia group A, C, E, F and G genes in sporadic acute myeloid leukaemia. Journal of Medical Genetics, 38, pp.S55.

Warm, D.L., Margett, B.M., Whelan, A.R. and Wrigley, N. (2001) Factors affecting and limiting food choice in a 'food desert'. Proceedings of the Nutrition Society, 60, (4b), p.177A. (doi:10.1017/S0029665101000684).

Wegner, Michael and Riethmacher, Dieter (2001) Chronicles of a switch hunt: gcm genes in development. Trends in Genetics, 17, (5), 286-290. (doi:10.1016/S0168-9525(01)02275-2).

Wilkie, A.O.M., Elanko, N., Sibbring, J.S., Metcalfe, K.A., Clayton-Smith, J., Temple, I.K., Wall, S.A. and Donnai, D. (2001) A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. American Journal of Human Genetics, 69, (4), 653-653. (doi:10.1002/humu.1230).