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

• T. Strachan, M. Abitbol, D. Davidson and J. S. Beckmann. A new dimension for the human genome project: Towards comprehensive expression maps. Nature Genetics 1997, 16, 126-132.
• P. F. Chinnery,M. A. Johnson,R. W. Taylor,W. F. Durward,D. M. Turnbull. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997, 49(4), 1166-8.
• P.F. Chinnery,M.A. Johnson,R.W. Taylor,W.F. Durward,D.M. Turnbull. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997, 49, 1166-1168.
• P. F. Chinnery,M. A. Johnson,R. W. Taylor,R. N. Lightowlers,D. M. Turnbull. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Annals of Neurology 1997, 41(3), 408-10.
• Mansfield JC, Griffin SM, Wadehra V, Matthewson K. A prospective evaluation of cytology from biliary strictures. Gut 1997, 40(5), 671-677.
• M. P. Splitt, M. Y. Tsai, J. Burn and J. A. Goodship. Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart 1997, 77, 369-370.
• S. A. Lynch, D. GardnerMedwin, J. Burn and K. M. D. Bushby. Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay - A new autosomal dominant disorder?. Clinical Dysmorphology 1997, 6, 133-138.
• P. Warwicker,T.H.J. Goodship,S. Pedler,M.K. Ward. Acute renal failure with hypocomplementaemic microangiopathy secondary to presumed capnocytophagia sepsis; response to fresh frozen plasma. 1997. Nephrology Dialysis Transplantation.
• H. Li,H. Lochmuller,V. W. Yong,G. Karpati,J. Nalbantoglu. Adenovirus-mediated wild-type p53 gene transfer and overexpression induces apoptosis of human glioma cells independent of endogenous p53 status. J Neuropathol Exp Neurol 1997, 56(8), 872-8.
• V. Straub,J. A. Rafael,J. S. Chamberlain,K. P. Campbell. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol 1997, 139(2), 375-85.
• Neubüser, A., Peters, H., Balling, R. and Martin, G. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation.. Cell 1997, 90, 247-255.
• Steel DHW, Hoh HB, Harrad RA, Collins CR. Botulinum toxin for the temporary treatment of involutional lower lid entropion: A clinical and morphological study. Eye 1997, 11(4), 472-475.
• M. G. Dunlop, S. M. Farrington, A. D. Carothers, A. H. Wyllie, L. Sharp, J. Burn, B. Liu, K. W. Kinzler and B. Vogelstein. Cancer risk associated with germline DNA mismatch repair gene mutations. Human Molecular Genetics 1997, 6, 105-110.
• J. Burn, P. D. Chapman, J. Mathers, D. T. Bishop and H. Lynch. CAPP2: An international controlled trial of aspirin and resistant starch in carriers of HNPCC. Journal of Medical Genetics 1997, 34, 518-518.
• Fairgrieve S., Magnay D., White I. and Burn J. Case report. Maternal serum screening: a team approach. British Journal of Midwifery 1997, 5, 152-153.
• Lloyd S.E., Gunther W., Pearce S.H.S., Thomson A., Bianchi M.L., Bosio M., Craig I.W., Fisher S.E., Scheinman S.J., Wrong O., Jentsch T.J., Thakker R.V. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis disorders. Hum Mol Genet 1997, 6, 1233-1239.
• Chinnery PF, Turnbull DM. Clinical features, investigation, and management of patients with defects of mitochondrial DNA. Journal of Neurology, Neurosurgery, and Psychiatry 1997, 63(5), 559-563.
• Burn J. and Chapman P.D. Colon cancers: genes or environment?. Nutrition Abstracts and Reviews, Series A: Human and Experimental 1997, 67, 787-784.
• A. Abicht,W. Muller-Felber,P. Fischer,I. Jakob,L. Kurz ,R. Rudel ,W. Mortier,D. Pongratz,H. Lochmuller. Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients. Eur J Med Res 1997, 2(12), 515-22.
• Graham,K.A., Reaich,D., Channon,S.M., Downie,S., Goodship,T.H.J. Correction of acidosis in hemodialysis decreases whole-body protein degradation. Journal of the American Society of Nephrology 1997, 8, 632-637.
• Graham,K.A., Hoenich,N.A., Tarbit,M., Ward,M.K., Goodship,T.H.J. Correction of acidosis in hemodialysis patients increases the sensitivity of the parathyroid glands to calcium. Journal of the American Society of Nephrology 1997, 8, 627-631.
• P. F. Chinnery, P. J. Reading, D. Milne, D. GardnerMedwin and D. M. Turnbull. CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology 1997, 49, 1131-1133.
• P. F. Chinnery,P. J. Reading,D. Milne,D. Gardner-Medwin,D. M. Turnbull. CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology 1997, 49(4), 1131-3.
• P. F. Chinnery,P. J. Reading,D. Milne,D. Gardner-Medwin,D. M. Turnbull. CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology 1997, 49(4), 1131-3.
• H. J. Clouston,J. Fenwick,A. L. Webb,M. Herbert,A. Murdoch,J. Wolstenholme. Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day old human blastocysts. Human Genetics 1997, 101(1), 30-6.
• M. P. Splitt, J. Burn and J. A. Goodship. Determination of left-right asymmetry. Journal of Medical Genetics 1997, 34, SP28-SP28.
• M. Herbert, J. I. Gillespie and A. P. Murdoch. Development of calcium signalling mechanisms during maturation of human oocytes. Molecular Human Reproduction 1997, 3, 965-973.
• M. Herbert,J. I. Gillespie,A. P. Murdoch. Development of calcium signalling mechanisms during maturation of human oocytes. Molecular Human Reproduction 1997, 3(11), 965-73.
• P. F. Chinnery, D. M. Turnbull, T. J. Walls and P. J. Reading. Driving and stroke - Reply. Lancet 1997, 350, 1402-1403.
• S. J. Mills, P. D. Chapman, J. Burn and A. Gunn. Endoscopic screening and surgery for familial adenomatous polyposis: Dangerous delays. British Journal of Surgery 1997, 84, 74-77.
• D.J. Elliott, M.R. Millar, K. Oghene, A. Ross, F. Kiesewetter, J. Pryor, M. McIntyre, T.B. Hargreave, P.T.K. Saunders, P.H. Vogt, A.C. Chandley and H. Cooke. Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.. Proceedings of the National Academy of Sciences (USA) 1997, 94, 3848-3853.
• Miles C, Sanchez MJ, Sinclair A, Dzierzak E. Expression of the Ly-6E.1 (Sca-1) transgene in adult hematopoietic stem cells and the developing mouse embryo.. Development. 1997, 124(2), 537-47..
• P. F. Chinnery,P. J. Shaw,P. G. Ince,G. H. Jackson,R. I. Bishop. Fulminant encephalopathy due to the catastrophic primary antiphospholipid syndrome. J Neurol Neurosurg Psychiatry 1997, 62(3), 300-1.
• P. F. Chinnery,P. J. Shaw,P. G. Ince,G. H. Jackson,R. I. Bishop. Fulminant encephalopathy due to the catastrophic primary antiphospholipid syndrome [letter]. Journal of Neurology, Neurosurgery & Psychiatry 1997, 62(3), 300-1.
• Chinnery P.F., Taylor R.W., Clark K., Lightowlers R.N., Turnbull D.M. Gene therapy for mitochondrial disease. Quarterly Journal of Medicine 1997, 90, 711-722.
• PF. Chinnery,RW. Taylor,K. Clarke,RN. Lightowlers,DM. Turnbull. Gene therapy for mitochondrial DNA diseases. Neurology 1997, 48, A248.
• A. Jani,H. Lochmuller,G. Acsadi,M. Simoneau,J. Huard,A. Garnier,G. Karpati,B. Massie. Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA. J Virol Methods 1997, 64(2), 111-24.
• P. F. Chinnery, N. Howell, R. N. Lightowlers and D. M. Turnbull. Genetic counselling for patients with mitochondrial DNA defects - Predicting the outcome of pregnancy based on maternal mutant load. Neurology 1997, 48, 49002-49002.
• S. A. Lynch and J. Burn. Genetic counselling in families with hereditary sacral agenesis. Journal of Medical Genetics 1997, 34, SP16-SP16.
• C. Julier,M. Delepine,B. Keavney,J. Terwilliger,S. Davis,D. E. Weeks,T. Bui,X. Jeunemaitre,G. Velho,P. Froguel,P. Ratcliffe,P. Corvol,F. Soubrier,G. M. Lathrop. Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. Hum Mol Genet 1997, 6(12), 2077-85.
• Quinton R, Hasan W, Grant W, Thrasivoulou C, Quiney RE, Besser GM, Bouloux P-MG. GnRH immunoreactivity in the nasal epithelia of adults with Kallmann's syndrome and isolated hypogonadotropic hypogonadism and in the early midtrimester human fetus. Journal of Clinical Endocrinology and Metabolism 1997, 82, 309-314.
• Quinton R, Schofield JK, Duke VM, Bouloux P-MG, Buchanan CR, Ross EM, Leigh IM, Wood DF. Ichthyosis and delayed puberty: not always Kallmann's syndrome. Clinical & Experimental Dermatology 1997, 22, 201-204.
• Lloyd S.E., Pearce S.H.S., Gunther W., Kawaguchi H., Igarashi T., Jentsch T.J., Thakker R.V. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest 1997, 99, 967-974.
• Mansfield JC, Tanner AR, Bramble MG. Information for patients about inflammatory bowel disease.. Journal of the Royal College of Physicians of London 1997, 31, 184-7.
• Bui TD, Lako M, Lejeune S, Curtis AR, Strachan T, Lindsay S, Harris AL. Isolation of a full-length human WNT7A gene implicated in limb development and cell transformation, and mapping to chromosome 3p25.. Gene 1997, 189, 25-29.
• Peters, H., Schuster, G., Neubüser, A., Richter, T., Höfler, H. and Balling, R. Isolation of the human PAX9 cDNA from adult human esophagus.. Mammalian Genome 1997, 8, 62-64.
• Quinton R, Duke VM, De Zoysa PA, Bouloux P-MG. Kallmann's syndrome. Human Fertility 1997, 2(2), 105-106.
• S. Lindsay, M. Ireland, O. Obrien, J. ClaytonSmith, J. A. Hurst, J. Mann, T. Cole, J. Sampson, S. Slaney, D. Schlessinger, J. Burn and G. Pilia. Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. Journal of Medical Genetics 1997, 34, 480-483.
• Lightowlers RN, Chinnery PF, Turnbull DM, Howell N, Turnbull DM. Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease. Trends in Genetics 1997. ,13 11 450-455.
• P. F. Chinnery,N. E. Cartlidge,D. J. Burn,P. G. Cleland,I. McKeith. Management of parkinsonism and psychotic depression in a case of acute intermittent porphyria. J Neurol Neurosurg Psychiatry 1997, 62(5), 542.
• P. F. Chinnery, N. Cartlidge, D. J. Burn, P. G. Cleland and I. McKeith. Management of parkinsonism and psychotic depression in a case of acute intermittent porphyria. Journal of Neurology Neurosurgery and Psychiatry 1997, 62, 542-542.
• S. Fairgrieve, D. Magnay, I. White and J. Burn. Maternal serum screening for Down's syndrome: a survey of midwives' views. Public Health 1997, 111, 383-385.
• J. E. Newkirk,R. W. Taylor,N. Howell,L. A. Bindoff,P. F. Chinnery,K. G. Alberti,D. M. Turnbull,M. Walker. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. Diabetic Medicine 1997, 14(6), 457-60.
• K. Morrison, Y. H. Edwards, S. A. Lynch, J. Burn, F. Hol and E. Mariman. Methionine synthase and neural tube defects. Journal of Medical Genetics 1997, 34, 958-958.
• V. Allamand,Y. Sunada,M. A. Salih,V. Straub,C. O. Ozo,M. H. Al-Turaiki,M. Akbar,T. Kolo,H. Colognato,X. Zhang,L. M. Sorokin,P. D. Yurchenco,K. Tryggvason,K. P. Campbell. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Hum Mol Genet 1997, 6(5), 747-52.
• Mayston MJ, Harrison LM, Quinton R, Stephens JA, Krams M, Bouloux P-MG. Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study. Brain 1997, 120(7), 1199-1216.
• Krams M, Quinton R, Mayston MJ, Harrison LM, Dolan RJ, Bouloux P-MG, Stephens JA, Frackowiak RS, Passingham RE. Mirror movements in X-linked Kallmann's syndrome. II. A PET study. Brain 1997, 120(7), 1217-1228.
• P. F. Chinnery,D. M. Turnbull. Mitochondrial medicine. Qjm 1997, 90(11), 657-67.
• P.F. Chinnery,D.M. Turnbull. Mitochondrial medicine. Quarterly Journal of Medicine 1997, 90, 657-666.
• P. F. Chinnery and D. M. Turnbull. Mitochondrial medicine. Qjm-Monthly Journal of the Association of Physicians 1997, 90, 657-667.
• D. G. R. Evans, J. Hill, T. Dudding, J. Burn and E. R. Maher. Molecular genetic tests in surgical management of familial adenomatous polyposis. Lancet 1997, 350, 1777-1777.
• Strachan T, Lindsay S, Wilson DI. Molecular Genetics of Early Human Development (A Volume in the Human Molecular Genetics Series). Pub Academic Press. ISBN 0-122-20442-5
  Issn: 0-122-20442-5
  (Book) 1997.
• Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997,120 10 1713-1721.
• V. Straub,K. P. Campbell. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 1997, 10(2), 168-75.
• Chinnery PF, Turnbull DM, Walls TJ, Reading PJ. Recurrent strokes in a 34-year-old man. Lancet 1997, 350(9077), 560-.
• R. W. Taylor,P. F. Chinnery,D. M. Turnbull,R. N. Lightowlers. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genetics 1997, 15(2), 212-5.
• P. Jonas, D. S. Chase, C. Parker, E. J. Tawn, L. Parker and J. Burn. Setting up a DNA bank: Practical issues. Journal of Medical Genetics 1997, 34, 707-707.
• Steel DHW, Weir P, James CRH. Silicone assisted, argon laser confinement of recurrent proliferative vitreoretinopathy related retinal detachment: a technique to allow silicone oil removal in problem eyes. British Journal of Ophthalmology 1997, 81(9), 765-770.
• B. Casey, M. Gebbia, G. B. Ferrero, G. Pilia, M. Yamada, A. S. Aylsworth, M. Penman-Splitt, L. M. Bird, J. S. Bamforth, J. Burn, D. Schlessinger and D. L. Nelson. Sites inversus, heart defects, and other manifestations of X- linked heterotaxy caused by mutations in the zinc-finger transcription factor ZIC3. American Journal of Human Genetics 1997, 61, 90.
• Casey B, Gebbia M, Ferrero GB, Pilia G, Yamada M, Aylsworth AS, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL. Sites inversus, heart defects, and other manifestations of X-linked heterotaxy caused by mutations in the zinc-finger transcription factor ZIC3. In: AMERICAN JOURNAL OF HUMAN GENETICS. 1997.
• A. K. Ryan, K. Barlett, P. Clayton, S. Eaton, K. Mills, J. Collins, D. Donnai, R. Winter and J. Burn. Smith Lemli Opitz syndrome: a variable phenotype caused by 7 dehydro cholesterol reductase deficiency. Journal of Medical Genetics 1997, 34, SP39-SP39.
• A. K. Ryan, K. Bartlett, P. Clayton, S. Eaton, K. Mills, J. Collins, D. Donnai, R. Winter and J. Burn. Smith-Lemli-Opitz syndrome: A variable phenotype caused by 7 dehydro cholesterol reductase deficiency. American Journal of Human Genetics 1997, 61, 10.
• Wyllie J.P., Madar R.J., Wright M. and Burn J. Strategies for antenatal detection of Down's syndrome. Arch Dis Child 1997, 76, F26-F30.
• Fisk N.M. and Burn J. Terathanasia, folic acid and birth defects (letter). Lancet 1997, 350, 1322-1323.
• J. Burn and N. M. Fisk. Terathanasia, folic acid, and birth defects. Lancet 1997, 350, 1322-1323.
• P. Brennan, S. Holloway, J. Little and J. Burn. Tetralogy of Fallot: a triad of susceptibility genes?. Journal of Medical Genetics 1997, 34, 701-701.
• H. D. Durham,M. A. Alonso-Vanegas,A. F. Sadikot,L. Zhu,H. Lochmuller,B. Massie,J. Nalbantoglu,G. Karpati. The immunosuppressant FK506 prolongs transgene expression in brain following adenovirus-mediated gene transfer. Neuroreport 1997, 8(9-10), 2111-5.
• Graham,K.A., Goodship,T.H.J. The impact of maintenance hemodialysis on protein and energy requirements. Seminars in Dialysis 1997, 10, 82-86.
• J. Burn, J. Camm, M. J. Davies, L. Peltonen, P. J. Schwartz and H. Watkins. The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome. Heart 1997, 78, 110-116.
• Warwicker,P., Goodship,T.H.J., Goodship,J.A. Three new polymorphisms in the human complement factor H gene and promoter region. Immunogenetics 1997, 46, 437-438.
• Murdoch A, Stewart JA and Hamilton P. Thromboembolic disease associated with ovarian stimulation and assisted conception techniques. Human Reproduction 1997, 10, 2167-2173.
• J. A. Stewart,P. J. Hamilton,A. P. Murdoch. Thromboembolic disease associated with ovarian stimulation and assisted conception techniques. Human Reproduction 1997, 12(10), 2167-73.
• R. W. Taylor,P. F. Chinnery,K. M. Clark,R. N. Lightowlers,D. M. Turnbull. Treatment of mitochondrial disease. Journal of Bioenergetics & Biomembranes 1997, 29(2), 195-205.
• A. Murdoch. Triplets and embryo transfer policy. Human Reproduction 1997, 12(11 Suppl), 88-92.
• Murdoch A, Stewart JA and Hamilton P. Upper limb thrombosis associated with assisted conception treatment. Human Reproduction 1997, 10, 2174-2175.
• J. A. Stewart,P. J. Hamilton,A. P. Murdoch. Upper limb thrombosis associated with assisted conception treatment. Human Reproduction 1997, 12(10), 2174-5.
• M. Gebbia, G. B. Ferrero, G. Pilia, M. T. Bassi, A. S. Aylsworth, M. PenmanSplitt, L. M. Bird, J. S. Bamforth, J. Burn, D. Schlessinger, D. L. Nelson and B. Casey. X-linked situs abnormalities result from mutations in ZIC3. Nature Genetics 1997, 17, 305-308.
• Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. Nature Genetics 1997, 17(3), 305-308.
• Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, PenmanSplitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. NATURE GENETICS 1997, 17(3), 305-308.