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

• Xu, P.X., Adams, J., Peters, H., Brown, M.C., Heaney, S. and Maas, R. Eya1-deficient mice lack ears and kidneys and exhibit abnormal apoptosis of organ primordia.. Nature Genetics 1999, 23, 113-117.
• A. Abicht,R. Stucka,V. Karcagi,A. Herczegfalvi,R. Horvath,W. Mortier,U. Schara,V. Ramaekers,W. Jost,J. Brunner,G. Janssen,U. Seidel,B. Schlotter,W. Muller-Felber,D. Pongratz,R. Rudel ,H. Lochmuller. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 1999, 53(7), 1564-9.
• Patek CE, Little MH, Fleming S, Miles C, Charlieu JP, Clarke AR, Miyagawa K, Christie S, Doig J, Harrison DJ, Porteous DJ, Brookes AJ, Hooper ML, Hastie ND. A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.. Proc Natl Acad Sci U S A 96:2931-2936 1999.
• Patek CE, Little MH, Fleming S, Miles C, Charlieu JP, Clarke AR, Miyagawa K, Christie S, Doig J, Harrison DJ, Porteous DJ, Brookes AJ, Hooper ML, Hastie ND. A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.. Proc Natl Acad Sci U S A. 1999, 96(6), 2931-6..
• Louden,J.D., Roberts,R.G., Goodship,T.H.J. Acidosis and nutrition. Kidney International 1999, 56, S85-S88.
• Marsden PJ, Murdoch AP and Taylor R. Adipocyte insulin action following ovulation in polycystic ovarian syndrome. Human Reproduction 1999, 14, 2216-2222.
• P. J. Marsden,A. P. Murdoch,R. Taylor. Adipocyte insulin action following ovulation in polycystic ovarian syndrome. Human Reproduction 1999, 14(9), 2216-22.
• Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZMA, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. American Journal of Human Genetics 1999,64 5 1330-1339.
• Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood 1999, 81(4), 333-336.
• Quinton R, Randeva H, Conway GS, Bouloux P-MG, Jacobs HS, Prelevic G. Bone mineral density in men with idiopathic gonadotropin deficiency. In: 81st Annual Meeting of the Endocrine Society. 1999, San Diego: Endocrine Society.
• Gnecchi-Ruscone T, Taylor J, Mercuri E, Paternostro G, Pogue R, Bushby K, Sewry C, Muntoni F, Camici PG. Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?. Muscle and Nerve 1999, 22(11), 1549-1556.
• P. F. Chinnery,N. Howell,R. M. Andrews,D. M. Turnbull. Clinical mitochondrial genetics. J Med Genet 1999, 36(6), 425-36.
• P. F. Chinnery,N. Howell,R. M. Andrews,D. M. Turnbull. Clinical mitochondrial genetics. J Med Genet 1999, 36(6), 425-36.
• Chinnery PF, Howell N, Andrews RM, Turnbull DM. Clinical mitochondrial genetics. Journal of Medical Genetics 1999, 36(6), 425-436.
• J. Burn. Closing time for CATCH22. Journal of Medical Genetics 1999, 36, 737-738.
• Schuffenhauer, S., Leifheit, H.J., Lichtner, P., Peters, H., Murken, J. and Emmerich, P. De novo deletion (14)(q11,2q13) including PAX9: clinical and molecular findings.. J.Med.Genet. 1999, 36, 233-236.
• Ogasawara, M., Wada, H., Peters, H. and Satoh, N. Developmental expression of Pax1/9 genes in urochordate and hemichordate gills: insight into function and evolution of the pharyngeal epithelium.. Development 1999, 126, 2539-2550.
• Elliott PM, Hanna MG, Ward SA, Chinnery PF, Turnbull DM, Wood NW, McKenna WJ. Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease. Heart 1999, 81(4), 441-443.
• R. Coral-Vazquez,R. D. Cohn,S. A. Moore,J. A. Hill,R. M. Weiss,R. L. Davisson,V. Straub,R. Barresi,D. Bansal,R. F. Hrstka,R. Williamson,K. P. Campbell. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 1999, 98(4), 465-74.
• Bushby KMD. Dysferlin and muscular dystrophy. Clinical Neurology 1999, 39(12), 1271.
• L. V. B. Anderson, K. Davison, J. A. Moss, C. Young, M. J. Cullen, J. Walsh, M. A. Johnson, R. Bashir, S. Britton, S. Keers, Z. Argov, I. Mahjneh, F. Fougerousse, J. S. Beckmann and K. M. D. Bushby. Dysferlin is a plasma membrane protein and is expressed early in human development. Human Molecular Genetics 1999, 8, 855-861.
• Bushby KMD, Anderson LV, Bashir R, Britton S et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Human Molecular Genetics 1999, 8, 855-861.
• Vitale N, Owens WA, Hamilton JRL, Forty J, Dark JH, Hasan A. Early results with the Carbo-seal (R) composite valve conduit for aortic root replacement. JOURNAL OF HEART VALVE DISEASE 1999, 8(1), 80-84.
• Quinton R, Jacobs HS. Endogenous LH secretion in hypogonadotropic hypogonadism. In: Filicori, M; Flamigni, C, ed. The Role of Luteinizing Hormone in Folliculogenesis and Ovulation Induction. Bologna: Monduzzi, 1999, pp. 91-104.
• V. Straub,A. J. Ettinger,M. Durbeej,D. P. Venzke,S. Cutshall,J. R. Sanes,K. P. Campbell. epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J Biol Chem 1999, 274(39), 27989-96.
• R. M. Andrews,P. G. Griffiths,P. F. Chinnery,D. M. Turnbull. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 1999, 13 ( Pt 6), 769-72.
• R. M. Andrews,P. G. Griffiths,P. F. Chinnery,D. M. Turnbull. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 1999, 13 ( Pt 6), 769-72.
• N. A. Hanley, S. G. Ball, M. Clement-Jones, D. M. Hagan, T. Strachan, S. Lindsay, S. Robson, H. Ostrer, K. L. Parker and D. I. Wilson. Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mechanisms of Development 1999, 87, 175-180.
• H. Lochmuller,T. Johns,E. A. Shoubridge. Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts. Exp Cell Res 1999, 248(1), 186-93.
• S. Pearce. Extracellular "calcistat" in health and disease. Lancet 1999, 353, 83-84.
• A. Kartheuser, C. Walon, S. West, C. Breukel, R. Detry, A. C. Gribomont, T. Hamzehloei, P. Hoang, D. Maiter, J. Pringot, J. Rahier, P. M. Khan, A. Curtis, J. Burn, R. Fodde and C. Verellen-Dumoulin. Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3 ' APC mutation. Journal of Medical Genetics 1999, 36, 65-67.
• Warwicker,P., Donne,R.L., Goodship,J.A., Goodship,T.H.J., Howie,A.J., Kumararatne,D.S., Thompson,R.A., Taylor,C.M. Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency. Nephrology Dialysis Transplantation 1999, 14, 1229-1233.
• M. Farrall,B. Keavney,C. McKenzie,M. Delepine,F. Matsuda,G. M. Lathrop. Fine-mapping of an ancestral recombination breakpoint in DCP1. Nat Genet 1999, 23(3), 270-1.
• Pearce SHS, Vaidya BJ, Imrie H, Perros P, Kelly WF, Toft AD, McCarthy MI, Young ET, Kendall-Taylor P. Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease. American Journal of Human Genetics 1999, 65(5), 1462-1465.
• Denison C.K., Barnes R., Gibson B., Hunt A., Hart I., Steel M., Casismir C., Liu D., Nevin N.C., Anionwu E., Burn J., Dayan A., Denison K., Johnston P., Marteau T., Neil J., Pinching A., Platt E., Richards B., Steel C.M. and Train I. Gene Therapy Advisory Committee - Report on the potential use of gene therapy in utero. Hum Gene Ther 1999, 10, 689-692.
• P. D. Chapman and J. Burn. Genetic predictive testing for bowel cancer predisposition: the impact on the individual. Cytogenetics and Cell Genetics 1999, 86, 118-124.
• Quinton R, Barnett P, Coskeran P, Bouloux PMG. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clinical Endocrinology 1999, 51(4), 525-529.
• Quinton R, Barnett P, Coskeran P, Bouloux P-MG. Gordon Holmes spinocerebellar ataxia: a syndrome of isolated hypogonadotrophic hypogonadism resistant to therapy with pulsatile gonadotrophin-releasing hormone. Clinical Endocrinology 1999, 51, 525-529.
• M. Almeida, J. Coaker, A. Gunn, M. Bradburn, A. Curtis, J. Burn, J. C. Mathers and S. P. West. Hereditary non-polyposis colorectal cancer (HNPCC) amongst patients with apparently sporadic colorectal cancer. Journal of Medical Genetics 1999, 36, S40-S40.
• S. L. H. Williamson, A. Kartheuser, J. Coaker, M. D. Kooshkghazi, R. Fodde, J. Burn and J. C. Mathers. Intestinal tumorigenesis in the Apc1638N mouse treated with aspirin and resistant starch for up to 5 months. Carcinogenesis 1999, 20, 805-810.
• Quinton R, Cheow HK, Bouloux P-MG, Tymms DJ, Wu FCW, Jacobs HS. Kallmann's syndrome: is it always for life?. Clinical Endocrinology 1999, 50, 481-487.
• R. H. Crosbie,C. S. Lebakken,K. H. Holt,D. P. Venzke,V. Straub,J. C. Lee,R. M. Grady,J. S. Chamberlain,J. R. Sanes,K. P. Campbell. Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. J Cell Biol 1999, 145(1), 153-65.
• Lampe J, Kitzler H, Walter MC, Lochmuller HKM, Reichmann H. Methionine homozygosity at prion gene codon 129 may predispose to sporadic inclusion-body myositis. The Lancet 1999. , 353(9151), 465-466.
• Chinnery PF, Howell N, Andrews RM, Turnbull DM. Mitochondrial DNA analysis: Polymorphisms and pathogenicity. Journal of Medical Genetics 1999, 36(7), 505-510.
• Chinnery PF, Turnbull DM. Mitochondrial DNA and disease. Lancet 1999, 354(1), 17-21.
• R. M. Andrews,B. J. McNeela,P. Reading,P. G. Griffiths,P. F. Chinnery,D. M. Turnbull. Mitochondrial DNA disease masquerading as age-related mascular degeneration. Eye 1999, 13(Pt 4), 595-6..
• R. M. Andrews,B. J. McNeela,P. Reading,P. G. Griffiths,P. F. Chinnery,D. M. Turnbull. Mitochondrial DNA disease masquerading as age-related mascular degeneration. Eye 1999, 13 ( Pt 4), 595-6.
• M. Almelda, P. Fidalgo, J. Wijnen, R. Fodde, J. Burn, A. Curtis and S. P. West. Mutation detection strategy in hereditary non-polyposis colon cancer families. Journal of Medical Genetics 1999, 36, S94-S94.
• Lako M, Ramsden S, Campbell RD, Strachan T. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.. J. Medical Genetics 1999, 36(2), 119-124.
• P.F. Chinnery,P.J.G. Zwijnenburg,N. Howell,R.N. Lightowlers,L. Bindoff,R.W. Taylor,M. Walker,D.M. Turnbull. Non-random tissue distribution of mutant mitochondrial DNA. American Journal of Medical Genetics 1999, 85, 498-501.
• P. F. Chinnery,P. J. Zwijnenburg,M. Walker,N. Howell,R. W. Taylor,R. N. Lightowlers,L. Bindoff,D. M. Turnbull. Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 1999, 85(5), 498-501.
• P. F. Chinnery,P. J. Zwijnenburg,M. Walker,N. Howell,R. W. Taylor,R. N. Lightowlers,L. Bindoff,D. M. Turnbull. Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 1999, 85(5), 498-501.
• Mathers J.C. and Burn J. Nutrition in cancer prevention. Current Opinion in Oncology 1999, 11, 402-407.
• Rankin J, Strachan T, Lako M, Lindsay S. Partial cloning and assignment of WNT6 to human chromosome band 2q35 by in situ hybridization.. 1999, 84(1-2), 50-52.
• Graham RM, Owens WA. Pathogenesis of inherited forms of dilated cardiomyopathy. The New England Journal of Medicine 1999, (341), 1759 - 1762.
• J. Spiropoulos,P. F. Chinnery,D. M. Turnbull. Pathogenic mitochondrial DNA mutations and human reproduction. Hum Fertil (Camb) 1999, 2(2), 133-137.
• J. Spiropoulos,P. F. Chinnery,D. M. Turnbull. Pathogenic mitochondrial DNA mutations and human reproduction. Hum Fertil (Camb) 1999, 2(2), 133-137.
• Peters H, Wilm B, Sakai N, Imai K, Maas R and Balling R. Pax1 and Pax9 synergistically regulate vertebral column development. Development 1999, 126, 5399-5408.
• Peters H, Wilm B, Sakai N and Balling R. Pax1 and Pax9 synergistically regulate vertebral column development. Development 1999, 126, 5399-5408.
• Whiter A, Quinton R, Stanhope RG, Hurel SJ, Conway GS. Polycystic ovary syndrome: a role for metformin in overweight teenagers. Journal of Endocrinology 1999, 163(Suppl), OC25.
• C. Chu, E. Sheridan, G. Turner, F. Robson, G. Mason, J. Thornton and J. Burn. Prenatal testing for cancer predisposition syndromes. Journal of Medical Genetics 1999, 36, S35-S35.
• H. M. Arthur, D. I. Wilson, E. Torsney, G. Renforth, A. G. Diamond and J. Burn. Progress towards developing a mouse model of Hereditary Haemorrhagic Telangiectasia. American Journal of Human Genetics 1999, 65, 1578.
• Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the cambridge reference sequence for human mitochondrial DNA [5]. Nature Genetics 1999. ,23 2 147-.
• Quinton R, Coskeran P, Besser GM, Matfin G, Jacobs HS, Kirk JMW, Loumaye E, Warne D, Decosterd G, Bouloux P-MG. Recombinant human folliclestimulating hormone (Gonal-F) in combination with human chorionic gonadotrophin in spermatogenesis-induction in isolated hypogonadotrophic hypogonadism. Journal of Endocrinology 1999, 163(Suppl), OC27.
• Chinnery PF, Samuels DC. Relaxed replication of mtDNA: A model with implications for the expression of disease. American Journal of Human Genetics 1999,64 4 1158-1165.
• D. A. Aitken, M. Ireland, E. Berry, J. A. Crossley, J. N. Macri, J. Burn and J. M. Connor. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenatal Diagnosis 1999, 19, 706-710.
• M. S. Jackson, M. Rocchi, G. Thompson, T. Hearn, M. Crosier, J. Guy, D. Kirk, L. Mulligan, A. Ricco, S. Piccininni, R. Marzella, L. Viggiano and N. Archidiacono. Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Human Molecular Genetics 1999, 8, 205-215.
• A. P. Murdoch,I. Evbuomwan. Severe complications of ovarian hyperstimulation syndrome are preventable.[comment]. Human Reproduction 1999, 14(11), 2922-3.
• I. O. Evbuomwan,J. D. Fenwick,R. Shiels,M. Herbert,A. P. Murdoch. Severe ovarian hyperstimulation syndrome following salvage of empty follicle syndrome. Human Reproduction 1999, 14(7), 1707-9.
• Krams M, Quinton R, Ashburner J, Friston KJ, Bouloux P-MG, Frackowiak RSJ, Passingham JE. Structural MRI in Kallmann's syndrome: mirror movements associated with bilateral hypertrophy of the corticospinal tracts. Neurology 1999, 52, 816-822.
• A. Abicht,H. Lochmuller. Technology evaluation: CRIB (CNTF delivery) CytoTherapeutics Inc. Curr Opin Mol Ther 1999, 1(5), 645-50.
• Peters, H. and Balling, R. Teeth – where and how to make them.. Trends Genet. 1999, 15, 59-65.
• Steel DHW, Thorn J. The incidence of systemic side-effects following subconjunctival Mydricaine No. 1 injection. Eye 1999, 13(6), 720-722.
• Wright CM, Cheetham TD. The use of parental height to estimate target height allowing for regression to the mean. Archives of disease in childhood 1999, 81, 257-260.
• A. Ryan, J. Burn, S. Court, T. Jackson, J. C. Smith and D. Barwick. Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis. Clinical Dysmorphology 1999, 8, 15-18.