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

• Pearce SHS, Cheetham TD, Imrie H, Vaidya BJ, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. American Journal of Human Genetics 1998, 63(6), 1675-1684.
• Crilley JG, Owens WA, Parums DV. A dissection with a difference: an unusual care at ascending aortic dissection secondary to granulomatous aortitis. HOSPITAL MEDICINE 1998, 59(11), 892-893.
• R. Bashir, S. Britton, T. Strachan, S. Keers, E. Vafiadaki, M. Lako, I. Richard, S. Marchand, N. Bourg, Z. Argov, M. Sadeh, I. Mahjneh, G. Marconi, M. R. Passos-Bueno, E. D. Moreira, M. Zatz, J. S. Beckmann and K. Bushby. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics 1998, 20, 37-42.
• Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.. Nature Genetics 1998, 20(1), 37-42.
• Ross AJ, Ruiz-Perez V, Wang Y, Hagan D-M, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nature Genetics 1998. , 20(4), 358-361.
• M. A. Salih,M. Al Rayess,S. Cutshall,J. A. Urtizberea,M. H. Al-Turaiki,C. O. Ozo,V. Straub,M. Akbar,M. Abid,A. Andeejani,K. P. Campbell. A novel form of familial congenital muscular dystrophy in two adolescents. Neuropediatrics 1998, 29(6), 289-93.
• Lako M, Lindsay S, Bullen P, Wilson DI, Robson SC, Strachan T. A novel mammalian wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain.. Human Molecular Genetics 1998, 7(5), 813-822.
• R. W. Taylor,P. F. Chinnery,M. J. Bates,M. J. Jackson,M. A. Johnson,R. M. Andrews,D. M. Turnbull. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochem Biophys Res Commun 1998, 243(1), 47-51.
• R. W. Taylor, P. F. Chinnery, M. J. D. Bates, M. J. Jackson, M. A. Johnson, R. M. Andrews and D. M. Turnbull. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochemical and Biophysical Research Communications 1998, 243, 47-51.
• R.W. Taylor,P.F. Chinnery,M.J.D. Bates,M.J. Jackson,M.A. Johnson,R.M. Andrews,D.M. Turnbull. A novel mitochondrial DNA point mutation in the tRNAIle gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochemical and Biophysical Research Communications 1998, 243, 47-51.
• Steel DHW, Rosseinsky DR, James CR. Acute retinal toxicity caused by the bimetallic electrochemical action of a galvanized steel intraocular foreign body. Retina 1998, 18(1), 77-79.
• Quinton R, Conway GS, Vanderpump MPJ, Bouloux P-MG, Jacobs HS. Adult-onset idiopathic hypogonadotrophic hypogonadism may be over-diagnosed. British Medical Journal 1998, 317, 600-601.
• Joosten, P., Hol, F.A., van Beersum, S.E., Peters, H., Hamel, B.C., Afink, G.B., van Zoelen, E.J. and Mariman, E.C. Altered regulation of platelet-derived growth factor receptor-a gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins.. Proc.Natl.Acad.Sci. 1998, 95, 14459-14463.
• Young C, Lindsay S, Vater R, Slater CR. An improved method for the simultaneous demonstration of mRNA and esterase activity at the human neuromuscular junction. Histochemical Journal 1998,30 1 7-11.
• J. H. Park,V. A. Straub,M. O'Shea. Anterograde signaling by nitric oxide: characterization and in vitro reconstitution of an identified nitrergic synapse. J Neurosci 1998, 18(14), 5463-76.
• S. J. Mills, J. C. Mathers, P. D. Chapman, J. Burn and A. Gunn. Aspirin, sulindac and the rectum in familial adenomatous polyposis. British Journal of Surgery 1998, 85, 55-56.
• Mills SJ, Mathers JC, Chapman PD, Burn J, Gunn A. Aspirin, sulindac and the rectum in familial adenomatous polyposis. In: BRITISH JOURNAL OF SURGERY. 1998.
• Mansfield JC. Balsalazide - A viewpoint. DRUGS 1998, 56(1), 90-90.
• F. Duclos,O. Broux,N. Bourg,V. Straub,G. L. Feldman,Y. Sunada,L. E. Lim,F. Piccolo,S. Cutshall,F. Gary,F. Quetier,J. C. Kaplan,C. E. Jackson,J. S. Beckmann,K. P. Campbell. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord 1998, 8(1), 30-8.
• Douglas F. and Burn J. Cancer genetics: a summary. Cleveland Medical Journal 1998, 1998, 4-5.
• S. E. Green, P. Chapman, J. Burn, A. D. Burt, M. Bennett, D. R. Appleton, J. S. Varma and J. C. Mathers. Colonic epithelial cell proliferation in hereditary non- polyposis colorectal cancer. Gut 1998, 43, 85-92.
• Green SE, Chapman P, Burn J, Burt AD, Bennett M, Appleton DR, Varma JS, Mathers JC. Colonic epithelial cell proliferation in hereditary non-polyposis colorectal cancer. Gut 1998, 43(1), 85-92.
• Green SE, Chapman P, Burn J, Burt AD, Bennett M, Appleton DR, Varma JS, Mathers JC. Colonic epithelial cell proliferation in hereditary non-polyposis colorectal cancer. GUT 1998, 43(1), 85-92.
• G. H. Guibinga,H. Lochmuller,B. Massie,J. Nalbantoglu,G. Karpati,B. J. Petrof. Combinatorial blockade of calcineurin and CD28 signaling facilitates primary and secondary therapeutic gene transfer by adenovirus vectors in dystrophic (mdx) mouse muscles. J Virol 1998, 72(6), 4601-9.
• Miles C, Elgar G, Coles E, Kleinjan DJ, van Heyningen V, Hastie N. Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13.. Proc Natl Acad Sci U S A 95:13068-72 1998.
• De Zoysa PA, Helliwell RJA, Duke VM, Quinton R, P-MG Bouloux. Contrasting expression of KAL in cell free systems: 5'UTR and coding region structural effects on translation. Protein Expression & Purification 1998, 13, 235-242.
• S. J. Mills, J. C. Mathers, P. D. Chapman, J. Burn and A. Gunn. Crypt cell proliferation state in the human colon. Validation of results obtained by whole crypt microdissection and the findings in patients with familial adenomatous polyposis, sporadic adenomas and colorectal cancer. British Journal of Surgery 1998, 85, 84-84.
• Follows,G.A., Mathew,J., Lucas,S., Black,M.J.M., Goodship,T.H.J. Cutaneous botryomycosis in a patient with lupus nephritis. Nephrology Dialysis Transplantation 1998, 13, 3200-3201.
• J. Burn, P. D. Chapman, D. T. Bishop and J. Mathers. Diet and cancer prevention: the Concerted Action Polyp Prevention (CAPP) Studies. Proceedings of the Nutrition Society 1998, 57, 183-186.
• A. J. Leonard, J. W. W. Killen, J. C. Mansfield, G. J. Gibson, M. Hudson and N. A. G. Jones. Difficulties in diagnosis and treatment of spinal tuberculosis. Hospital Medicine 1998, 59, 656-657.
• Graham,K.A., Goodship,T.H.J. Does metabolic acidosis have clinically important consequences in dialysis patients?. Seminars in Dialysis 1998, 11, 14-15.
• R. Fleming,F. Lloyd,M. Herbert,J. Fenwick,T. Griffiths,A. Murdoch. Effects of profound suppression of luteinizing hormone during ovarian stimulation on follicular activity, oocyte and embryo function in cycles stimulated with purified follicle stimulating hormone. Human Reproduction 1998, 13(7), 1788-92.
• J. A. Stewart,J. N. Bulmer,A. P. Murdoch. Endometrial leucocytes: expression of steroid hormone receptors. Journal of Clinical Pathology 1998, 51(2), 121-6.
• E. Brand,N. Chatelain,B. Keavney,M. Caulfield,L. Citterio,J. Connell,D. Grobbee,S. Schmidt,H. Schunkert,H. Schuster,A. M. Sharma,F. Soubrier. Evaluation of the angiotensinogen locus in human essential hypertension: a European study. Hypertension 1998, 31(3), 725-9.
• K. H. Holt,L. E. Lim,V. Straub,D. P. Venzke,F. Duclos,R. D. Anderson,B. L. Davidson,K. P. Campbell. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Mol Cell 1998, 1(6), 841-8.
• Wilson I.J., and Balding D. J. Genealogical inference from microsatellite data.. Genetics, 1998, 150, 499-510.
• J. M. Varley, P. Chapman, G. McGown, M. Thorncroft, G. R. M. White, M. J. Greaves, D. Scott, A. Spreadborough, K. J. Tricker, J. M. Birch, D. G. R. Evans, R. Reddel, R. S. Camplejohn, J. Burn and J. M. Boyle. Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family. Oncogene 1998, 16, 3291-3298.
• P. F. Chinnery,N. Howell,R. N. Lightowlers,D. M. Turnbull. Genetic counseling and prenatal diagnosis for mtDNA disease. Am J Hum Genet 1998, 63(6), 1908-11.
• P. F. Chinnery,N. Howell,R. N. Lightowlers,D. M. Turnbull. Genetic counseling and prenatal diagnosis for mtDNA disease. Am J Hum Genet 1998, 63(6), 1908-11.
• P.F. Chinnery,N. Howell,R.N. Lightowlers,D.M. Turnbull. Genetic counseling and prenatal diagnosis of mtDNA disease. American Journal of Human Genetics 1998, 63, 1908-1910.
• Warwicker,P., Goodship,T.H.J., Donne,R.L., Pirson,Y., Nicholls, A., Ward,R.M., Turnpenny, P., Goodship,J.A. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney International 1998, 53, 836-844.
• S. E. Green, D. M. Bradburn, J. S. Varma and J. Burn. Hereditary non-polyposis colorectal cancer. International Journal of Colorectal Disease 1998, 13, 3-12.
• Green SE, Bradburn DM, Varma JS, Burn J. Hereditary non-polyposis colorectal cancer. International Journal of Colorectal Disease 1998, 13(1), 3-12.
• Green SE, Bradburn DM, Varma JS, Burn J. Hereditary non-polyposis colorectal cancer. INTERNATIONAL JOURNAL OF COLORECTAL DISEASE 1998, 13(1), 3-12.
• J. M. Howell,H. Lochmuller,A. O'Hara,S. Fletcher,B. A. Kakulas,B. Massie,J. Nalbantoglu,G. Karpati. High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther 1998, 9(5), 629-34.
• Murdoch A. How many embryos should be transferred?. Human Reproduction 1998, 13, 2666-2670.
• A. P. Murdoch. How many embryos should be transferred?[comment]. Human Reproduction 1998, 13(1O), 2666-70.
• G. Acsadi,D. O'Hagan,H. Lochmuller,S. Prescott,N. Larochelle,J. Nalbantoglu,A. Jani,G. Karpati. Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells. J Mol Med 1998, 76(6), 442-50.
• Lako M, Strachan T, Bullen P, Wilson DI, Robson SC, Lindsay S. Isolation, characterisation and embryonic expression of WNT11, a gene which maps to 11q13.5 and has possible roles in the development of skeleton, kidney and lung.. Gene 1998, 219(1-2), 101-110.
• R. H. Crosbie,V. Straub,H. Y. Yun,J. C. Lee,J. A. Rafael,J. S. Chamberlain,V. L. Dawson,T. M. Dawson,K. P. Campbell. mdx muscle pathology is independent of nNOS perturbation. Hum Mol Genet 1998, 7(5), 823-9.
• B. Keavney,C. A. McKenzie,J. M. Connell,C. Julier,P. J. Ratcliffe,E. Sobel,M. Lathrop,M. Farrall. Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet 1998, 7(11), 1745-51.
• Steel DHW, Waldock A. Measurement of the retinal nerve fibre layer with scanning laser polarimetry in patients with previous demyelinating optic neuritis. Journal of Neurology, Neurosurgery and Psychiatry 1998, 64(4), 505-509.
• Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998,121 10 1889-1894.
• P. F. Chinnery and D. M. Turnbull. Mitochondrial defects and endocrine dysfunction. Qjm-Monthly Journal of the Association of Physicians 1998, 91, 376-376.
• Lynn S, Wardell T, Johnson MA, Chinnery PF, Daly ME, Walker M, Turnbull DM. Mitochondrial diabetes: Investigation and identification of a novel mutation. Diabetes 1998, 47(11), 1800-1802.
• P. F. Chinnery and D. M. Turnbull. Mitochondrial DNA and disease. Netherlands Journal of Medicine 1998, 53, 4-6.
• P. F. Chinnery,D. M. Turnbull,N. Howell,R. M. Andrews. Mitochondrial DNA mutations and pathogenicity. J Med Genet 1998, 35(8), 701-2.
• P. F. Chinnery, D. M. Turnbull, N. Howell and R. M. Andrews. Mitochondrial DNA mutations and pathogenicity. Journal of Medical Genetics 1998, 35, 701-702.
• P. F. Chinnery,D. M. Turnbull. Mitochondrial genotype and clinical phenotype. J Inherit Metab Dis 1998, 21(4), 321-5.
• P. F. Chinnery and D. M. Turnbull. Mitochondrial genotype and clinical phenotype. Journal of Inherited Metabolic Disease 1998, 21, 321-325.
• P. F. Chinnery,D. M. Turnbull. Mitochondrial genotype and clinical phenotype. J Inherit Metab Dis 1998, 21(4), 321-5.
• D. G. R. Evans, J. Hill, T. Dudding, J. Burn and E. R. Maher. Molecular genetic tests in surgical management of familial adenomatous polyposis - reply. Lancet 1998, 351, 1131-1132.
• V. Straub,F. Duclos,D. P. Venzke,J. C. Lee,S. Cutshall,C. J. Leveille,K. P. Campbell. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol 1998, 153(5), 1623-30.
• K. M. Bushby,C. Pollitt,M. A. Johnson,M. T. Rogers,P. F. Chinnery. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscul Disord 1998, 8(8), 574-9.
• K. M. Bushby,C. Pollitt,M. A. Johnson,M. T. Rogers,P. F. Chinnery. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscul Disord 1998, 8(8), 574-9.
• K. M. D. Bushby, C. Pollitt, M. A. Johnson, M. T. Rogers and P. F. Chinnery. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscular Disorders 1998, 8, 574-579.
• S. J. Perry,V. A. Straub,G. Kemenes,N. Santama,B. M. Worster,J. F. Burke,P. R. Benjamin. Neural modulation of gut motility by myomodulin peptides and acetylcholine in the snail Lymnaea. J Neurophysiol 1998, 79(5), 2460-74.
• Peters, H., Neubüser, A. Kratochwil, K. and Balling, R. Pax9 deficient mice lack pharyngeal pouch derivatives and teeth, and exhibit craniofacial and limb abnormalities.. Genes & Development 1998, 12, 2735-2747.
• F. Duclos,V. Straub,S. A. Moore,D. P. Venzke,R. F. Hrstka,R. H. Crosbie,M. Durbeej,C. S. Lebakken,A. J. Ettinger,J. van der Meulen,K. H. Holt,L. E. Lim,J. R. Sanes,B. L. Davidson,J. A. Faulkner,R. Williamson,K. P. Campbell. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol 1998, 142(6), 1461-71.
• Duke VM, Quinton R, Gordon I, Bouloux P-MG, Woolf AS. Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney. Nephrology, Dialysis & Transplantation. 1998, 13, 1198-2003.
• Bouloux P-MG, De Zoysa PA, Quinton R, Robertson A. Recent insights into the pathogenesis of Kallmann's syndrome. In: Gonadotropin-Releasing Hormone and Sex Steroids: Proceedings of 4th International Congress of Neuroendocrinology. 1998, Kitakushi, Japan.
• J. Burn, P. Brennan, J. Little, S. Holloway, R. Coffey, J. Somerville, N. R. Dennis, L. Allan, R. Arnold, J. E. Deanfield, M. Godman, A. Houston, B. Keeton, C. Oakley, O. Scott, E. Silove, J. Wilkinson, M. Pembrey and A. S. Hunter. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998, 351, 311-316.
• A. K. Ryan, K. Bartlett, P. Clayton, S. Eaton, L. Mills, D. Donnai, R. M. Winter and J. Burn. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. Journal of Medical Genetics 1998, 35, 558-565.
• K. Morrison, C. Papapetrou, F. A. Hol, E. C. M. Mariman, S. A. Lynch, J. Burn and Y. H. Edwards. Susceptibility to spina bifida; an association study of five candidate genes. Annals of Human Genetics 1998, 62, 379-396.
• Wilm, B., Dahl, E., Peters, H., Balling, R. and Imai, K. Targeted disruption of Pax1 reveals its null phenotype and proves haploinsufficiency.. Proc.Natl.Acad.Sci. 1998, 95, 8692-8697.
• W. Muller-Felber,M. Toepfer,T. Muller,J. Muller-Hocker,P. Fischer,H. Lochmuller,D. Pongratz. Tenascin is a useful marker in the diagnosis of inflammatory myopathies. Eur J Med Res 1998, 3(6), 281-7.
• D. S. Chase, E. J. Tawn, L. Parker, P. Jonas, C. O. Parker and J. Burn. The North Cumbria Community Genetics Project. Journal of Medical Genetics 1998, 35, 413-416.
• R. Vater, C. Young, L. V. B. Anderson, S. Lindsay, D. J. Blake, K. E. Davies, R. Zuellig and C. R. Slater. Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction. Molecular and Cellular Neuroscience 1998, 10, 229-242.
• P.F. Chinnery,D.M. Turnbull. Vomiting, anorexia and mitochondrial DNA disease. Lancet 1998, 351, 448.
• Chinnery P.F. and Turnbull D.M. Vomiting, anorexia and mitochondrial DNA disease. The Lancet 1998, 351, 448.
• P. F. Chinnery,D. M. Turnbull. Vomiting, anorexia, and mitochondrial DNA disease. Lancet 1998, 351(9100), 448.
• P. F. Chinnery,D. M. Turnbull. Vomiting, anorexia, and mitochondrial DNA disease. Lancet 1998, 351(9100), 448.
• Goodship,T.H.J. What is the relationship between metabolic acidosis and nutritional status in dialysis patients?. American Journal of Kidney Diseases 1998, 31, 884-886.