Newcastle University

Institute of Genetic Medicine Publications

Year: 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1997 1996 1995 1994 1993 1992 1991 1990 1989 1988 1987 1986 1985 1984 1979 1978

• S. H. S. Pearce, C. Williamson, O. Kifor, M. Bai, M. G. Coulthard, M. Davies, N. LewisBarned, D. McCredie, H. Powell, P. KendallTaylor, E. M. Brown and R. V. Thakker. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. New England Journal of Medicine 1996, 335, 1115-1122.
• P. J. Marsden,A. Murdoch,R. Taylor. Adipocyte insulin action during the normal menstrual cycle. Human Reproduction 1996, 11(5), 968-74.
• Lloyd FH, Powell P, Murdoch AP. Anabolic steroid abuse by body builders and male subfertility.[see comment]. British Medical Journal 1996,313 7049 100-101.
• J. Burn, S. Fairgrieve, P. Franks, I. White and D. Magnay. Audit of maternal serum screening: Strategies to augment counselling in response to women's views. European Journal of Human Genetics 1996, 4, 108-112.
• D. Jung,F. Duclos,B. Apostol,V. Straub,J. C. Lee,V. Allamand,D. P. Venzke,Y. Sunada,C. R. Moomaw,C. J. Leveille,C. A. Slaughter,T. O. Crawford,J. D. McPherson,K. P. Campbell. Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996, 271(50), 32321-9.
• Sánchez MJ, Holmes A, Miles C & Dzierzak E. Characterization of the First Definitive Hematopoietic Stem Cells in the AGM and Liver of the Mouse Embryo. Immunity 1996, 5(6), 513-525.
• P. Baxter, S. Connolly, A. Curtis, V. Spencer, C. Ravindranath, J. Burn and D. GardnerMedwin. Co-dominant inheritance of hyperekplexia and spastic paraparesis. Developmental Medicine and Child Neurology 1996, 38, 739-743.
• Lloyd SE, Pearce SHS, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SPA, Wrong O, Jentsch TJ, Craig IW, Thakker RV. Common molecular basis for three inherited kidney stone diseases.. Nature 1996, 379, 445-449.
• R. Herrmann,V. Straub,K. Meyer,T. Kahn,M. Wagner,T. Voit. Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. Eur J Pediatr 1996, 155(11), 968-76.
• Graham,K.A., Reaich,D., Channon,S.M., Downie,S., Gilmour,E., Passlick-Deetjen, J., Goodship,T.H.J. Correction of acidosis in CAPD decreases whole body protein degradation. Kidney International 1996, 49, 1396-1400.
• M. P. Splitt, J. Burn and J. Goodship. Defects in the determination of left-right asymmetry. Journal of Medical Genetics 1996, 33, 498-503.
• J. Burn and J. Goodship. Developmental genetics of the heart. Current Opinion in Genetics & Development 1996, 6, 322-325.
• R. Vater, C. Young, S. J. Lindsay, L. V. B. Anderson and C. R. Slater. Distribution of utrophin mRNA in rat skeletal muscle. Journal of General Physiology 1996, 108, 80-80.
• G. Acsadi,H. Lochmuller,A. Jani,J. Huard,B. Massie,S. Prescott,M. Simoneau,B. J. Petrof,G. Karpati. Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum Gene Ther 1996, 7(2), 129-40.
• P. A. Chinnery,V. F. Humphrey. Experimental visualization of acoustic resonances within a stadium-shaped cavity. Physical Review. E. Statistical Physics, Plasmas, Fluids, and Related Interdisciplinary Topics 1996, 53(1), 272-276.
• Bai M., Quinn S., Trivedi S., Kifor O., Pearce S.H.S., Pollak M.R., Krapcho K., Hebert S.C., Brown E.M. Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. J Biol Chem 1996, 271, 19537-19545.
• Quinton R, Illingworth J, Martineau I, Loumaye E, Bouloux P-MG. First use of recombinant FSH to induce fertility in a hypogonadotropic male. Fertility & Sterility 1996, 66, 164.
• Pearce S.H.S., Bai M., Quinn S.J., Kifor O., Thakker R.V., Brown E.M. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996, 98, 1860-1866.
• D. McHale, M. E. M. Porteous, J. Wentzel and J. Burn. Further evidence of genetic heterogeneity in hereditary hydronephrosis. Clinical Genetics 1996, 50, 491-493.
• Pearce S.H.S., Brown E.M. Genetic basis of endocrine disease: Disorders of calcium ion sensing. J Clin Endocrinol Metab 1996, 81, 2030-2035.
• K. Morrison, C. Papapetrou, J. Attwood, F. Hol, S. A. Lynch, A. Sampath, B. Hamel, J. Burn, J. Sowden, D. Stott, E. Mariman and Y. H. Edwards. Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. Human Molecular Genetics 1996, 5, 669-674.
• Min,S.A.Y., Rutherford,P., Ward,M.K., Wheeler,J., Robertson,H., Goodship,T.H.J. Goodpasture's syndrome with normal renal function. Nephrology Dialysis Transplantation 1996, 11, 2302-2305.
• D. M. Eccles, R. vanderLuijt, C. Breukel, H. Bullman, D. Bunyan, A. Fisher, J. Barber, C. duBoulay, J. Primrose, J. Burn and R. Fodde. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. American Journal of Human Genetics 1996, 59, 1193-1201.
• B. J. Petrof,H. Lochmuller,B. Massie,L. Yang,C. Macmillan,J. E. Zhao,J. Nalbantoglu,G. Karpati. Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T cell deficiency. Hum Gene Ther 1996, 7(15), 1813-26.
• Lako M, Strachan T, Curtis AR, Lindsay S. Isolation and characterization of WNT8B, a novel human Wnt gene that maps to 10q24.. Genomics 1996, 35(2), 386-388.
• Quinton R, Bouloux P-MG. Male hypogonadism, infertility and impotence. In: Ginsberg J & Prelevic G, ed. Drug Therapy in Reproductive Endocrinology. London: Arnold, 1996, pp. 242-258.
• Taylor R.W., Chinnery P.F., Haldane F., Morris A.A.M., Bindoff L.A., Wilson J., Turnbull D.M. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Annals of Neurology 1996, 40, 458-462.
• Taylor RW, Chinnery PF, Haldane F, Morris AAM, Bindoff LA, Wilson J, Turnbull DM. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Annals of Neurology 1996, 40(3), 459-462.
• C. Papapetrou, S. A. Lynch, J. Burn and Y. H. Edwards. Methylenetetrahydrofolate reductase and neural tube defects. Lancet 1996, 348, 58-58.
• Bouloux P-MG, De Zoysa PA, Duke VM, Quinton R. Molecular genetics and neurobiology of Kallmann's syndrome. In: Hansson, V; Levy, FO; Tasken, K, ed. Signal Transduction in Testicular Cells: basic and clinical aspects. Berlin: Springer-Verlag, 1996, pp. 305-317.
• T. Hamzehloei, S. P. West, P. Chapman, J. Burn and N. Curtis. Mutation detection in exons 1-14 of the adenomatous polyposis coli gene: Identification of an alternatively spliced transcript. Molecular and Cellular Probes 1996, 10, 379-385.
• N. D. Embleton, J. P. Wyllie, M. J. Wright, J. Burn and S. Hunter. Natural history of trisomy 18. Archives of Disease in Childhood 1996, 75, F38-F41.
• Perros P, Simpson AJ, Innes JA, Teale JD, McKnight JA. Non-islet cell tumour-associated hypoglycaemia: ¹¹¹In-octreotide imaging and efficacy of octreotide, growth hormone and glucocorticosteroids. Clinical Endocrinology 1996, 44(6), 727-731.
• B. Keavney,Y. M. Haider,A. J. McCance,J. D. Skehan. Normal coronary angiograms: financial victory from the brink of clinical defeat?. Heart 1996, 75(6), 623-5.
• Steel DHW, Harrad RA. Patterns of oculomotor synkinesis. In: Association for Research in Vision and Ophthalmology 1996 annual meeting. 1996, Ft Lauderdale, FL: Investigative Ophthalmology & Visual Science: Association for Research in Vision and Ophthalmology.
• S. Lindsay, M. Splitt, S. Edney, T. P. Berney, S. J. L. Knight, K. E. Davies, O. Obrien, M. Gale and J. Burn. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. American Journal of Human Genetics 1996, 58, 1120-1126.
• Mansfield J, Charnley R. Practice in endoscopic cholangiopancreatography in Denmark differs from that in Britain. British Medical Journal 1996. ,313 7067 1263-1264.
• C. Dudley,B. Keavney,B. Casadei,J. Conway,R. Bird,P. Ratcliffe. Prediction of patient responses to antihypertensive drugs using genetic polymorphisms: investigation of renin-angiotensin system genes. J Hypertens 1996, 14(2), 259-62.
• S. Chatkupt, T. Lehner, Q. Li, R. Sun, K. Tolba, S. Chaudhari, C. V. Torigian, E. S. Stenroos, M. Thomas, T. Strachan, J. Burn and W. G. Johnson. Sacral defect families with wide phenotypic variation map to the same chromosomal region. Neurology 1996, 46, 2006-2006.
• Roberts,R.G., Gilmour,E.R., Goodship,T.H.J. The correction of acidosis does not increase dietary protein intake in chronic renal failure patients. American Journal of Kidney Diseases 1996, 28, 350-353.
• P. J. Biggs, P. Chapman, S. R. Lakhani, J. Burn and M. R. Stratton. The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. Oncogene 1996, 12, 1375-1377.
• Quinton R, Duke VM, De Zoysa PA, Bouloux P-MG. The neurobiology of Kallmann's syndrome. Human Fertility 1996, 1(2), 121-127.
• Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, Pickman S, Kirk JMW, Besser GM, Jacobs HS, Bouloux P-MG. The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. Journal of Clinical Endocrinology and Metabolism 1996, 81, 3010-3017.
• G. Karpati,H. Lochmuller,J. Nalbantoglu,H. Durham. The principles of gene therapy for the nervous system. Trends Neurosci 1996, 19(2), 49-54.
• McManus R, Wilson AG, Mansfield J, Weir DG, Duff GW, Kelleher D. TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the celiac disease major histocompatibility complex haplotype.. European Journal of Immunology 1996, 26, 2113-8.
• H. D. Durham,H. Lochmuller,A. Jani,G. Acsadi,B. Massie,G. Karpati. Toxicity of replication-defective adenoviral recombinants in dissociated cultures of nervous tissue. Exp Neurol 1996, 140(1), 14-20.
• Steel DHW, Mahomed I, Sheffield E. Unilateral choroidal melanoma with bilateral retinal vasculitis. British Journal of Ophthalmology 1996, 80(9), 850-851.
• Steel DHW, Harrad RA. Unilateral congenital ptosis with ipsilateral superior rectus muscle overaction. American Journal of Ophthalmology 1996, 122(4), 550-556.
• Catalano,C., Goodship,T.H.J., Graham,K.A., Marino, C., Brown, A.L., Tapson, J.S., Ward,M.K., Wilkinson,R. Withdrawal of renal replacement therapy in Newcastle upon Tyne: 1964-1993. Nephrology Dialysis Transplantation 1996, 11, 133-139.
• J. Goodship, J. Carter and J. Burn. X-inactivation patterns in monozygotic and dizygotic female twins. American Journal of Medical Genetics 1996, 61, 205-208.