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

• Udd B, Bushby K, Nonaka I, Griggs R. 104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies. Neuromuscular Disorders 2002, 12(9), 897-904.
• Muntoni F, Bertini E, Bonneman C, Brockington M, Brown S, Bushby K, Fiszman M, Morner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Tuner G, Wewer U, Voit T, Guicheney P. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD). Neuromuscular Disorders 2002, 12(9), 889-896.
• Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Korner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE26-28th October, 2001, Naarden, The Netherlands. Neuromuscular Disorders 2002, 12(9), 889-896.
• Green JRB, Mansfield JC, Gibson JA, Kerr GD, Thornton PC. A double-blind comparison of balsalazide, 6.75 g daily, and sulfasalazine, 3 g daily, in patients with newly diagnosed or relapsed active ulcerative colitis. Alimentary Pharmacology and Therapeutics 2002, 16(1), 61-68.
• Mansfield JC, Giaffer MH, Cann PA, McKenna D, Thornton PC, Holdsworth CD. A double-blind comparison of balsalazide, 6.75 g, and sulfasalazine, 3 g, as sole therapy in the management of ulcerative colitis. Alimentary Pharmacology and Therapeutics 2002, 16(1), 69-77.
• Lampe AK, Brockington M, Johnson M, Leonard N, Hastings L, Muntoni F, Bushby K. A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes. In: Journal of Medical Genetics: British Human Genetics Conference. 2002, York: BMJ Group.
• Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 501(1-2), 19-28.
• Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 501(1-2), 19-28.
• Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. American Journal of Human Genetics 2002, 70(4), 1034-1037.
• Abicht A, Stucka R, Schmidt C, Briguet A, Höpfner S, Song I-H, Pongratz D, Müller-Felber W, Ruegg MA, Lochmüller H. A newly identified chromosomal microdeletion and an N-box mutation of the AChRε gene cause a congenital myasthenic syndrome. Brain 2002, 125(5), 1005-1013.
• McDonald CC, Kaye SB, Figueiredo FC, Macintosh G, Lockett C. A randomised, crossover, multicentre study to compare the performance of 0.1% (w/v) sodium hyaluronate with 1.4% (w/v) polyvinyl alcohol in the alleviation of symptoms associated with dry eye syndrome. Eye 2002, 16(5), 601-607.
• Ferreiro A, Monnier N, Romero NB, Leroy JP, Bonnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Annals of Neurology 2002, 51(6), 750-759.
• Ruiz-Perez V, O'Driscoll M, Jeggo P, Goodship J. A silent coding change altering splicing of ATR; a DNA repair gene, is a cause of Seckel syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS. 2002.
• Cordell HJ, Clayton DG. A Unified Stepwise Regression Procedure for Evaluating the Relative Effects of Polymorphisms within a Gene Using Case/Control or Family Data: Application to HLA in Type 1 Diabetes. American Journal of Human Genetics 2002, 70(1), 124-141.
• Chinnery PF, Samuels DC, Elson J, Turnbull DM. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?. Lancet 2002, 360(9342), 1323-1325.
• Straub V, Ratjen F, Amthor H, Voit T, Grasemann H. Airway nitric oxide in Duchenne muscular dystrophy. Journal of Pediatrics 2002, 141(1), 132-134.
• Carr G, Sayer JA, Simmons NL. Altered CLC-5 expression in mouse inner medullary collecting duct cells disrupts endocytosis and promotes calcium oxalate crystal adhesion. In: Journal of Physiology: Meeting of the Physiological Society. 2002, Leeds, UK: Wiley-Blackwell Publishing Ltd.
• Venables JP. Alternative splicing in the testes. Current Opinion in Genetics and Development 2002, 12(5), 615-619.
• Vaidya B, Pearce SHS, Charlton S, Marshall N, Rowan AD, Griffiths ID, Kendall-Taylor P, Cawston TE, Young-Min S. An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies. Rheumatology 2002, 41(2), 180-183.
• Vaidya B, Pearce SHS, Charlton S, Marshall N, Rowan AD, Griffiths ID, Kendall-Taylor P, Cawston TE, Young Min S. An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies. Rheumatology 2002, 41(2), 180-183.
• Hutter P, Wijnen J, Rey-Berthod C, Thiffault I, Verkuijlen P, Farber D, Hamel N, Bapat B, Thibodeau SN, Burn J, Wu J, MacNamara E, Heinimann K, Chong G, Foulkes WD. An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1. Journal of Medical Genetics 2002, 39(5), 323-327.
• Hampton P, Graham KA, Millar M, McCluskey S, Goodship THJ. Anodipsia nervosa a variant of anorexia in patients with end-stage renal disease. Nephrology, Dialysis, Transplantation 2002, 17(5), 942-943.
• Sayer JA, Carr G, Simmons NL, Goodship THJ. Antisense CLC-5 disrupts acidic endosomes and endocytosis in murine collecting duct cells. Journal of the American Society of Nephrology 2002, 13(supplement), 306A.
• Pepe G, de Visser M, Bertini E, Bushby K, Camacho Vanegas O, Chu M-L, Lattanzi G, Merlini L, Muntoni F, Urtisberea A. Bethlem myopathy (BETHLEM) 86th ENMC International Workshop. Neuromuscular Disorders 2002, 12(3), 296-305.
• Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, De Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, Van der Kooi A. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, NLD. Neuromuscular Disorders 2002, 12(10), 984-993.
• Lastowska, M., Cotterill, C., Bown, N., Cullinane, C., Variend, S., Lunec, J., Strachan, T., Pearson, A.D.J., Jackson, M.S. Breakpoint position on 17q identifies the most aggressive neuroblastoma tumors. Genes Chromosomes and Cancer 2002, 34(4), 428-436.
• Spiropoulos J, Turnbull DM, Chinnery PF. Can mitochondrial DNA mutations cause sperm dysfunction?. Molecular Human Reproduction 2002, 8(8), 719-721.
• Van der Kooi AJ, De Voogt WG, Bertini E, Bushby K, Merlini L, Muntoni F, Talim B, Urtizberea JA, de Visser M. Cardiac and pulmonary investigations in Bethlem myopathy. In: Neuromuscular Disorders: 7th International Congress of the World Muscle Society. 2002, Rotterdam, Netherlands: Elsevier Ltd.
• Goodship J, Henderson D. Cardiac development and cardiovascular malformation. In: European Journal of Human Genetics: European Society of Human Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics. 2002, Strasbourg, France: Nature Publishing Group.
• Jones E, Crolla JA, Zwolinski SA, Lynch SA, Wright MJ. Characterisation of a family with an interstitial 11p duplication. In: Journal of Medical Genetics: British Human Genetics Conference. 2002, York: BMJ Group.
• Pearce SHS. Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor. Annals of Medicine 2002, 34(3), 201-206.
• McIntosh A, Hutchinson A, Home PD, Brown F, Bruce A, Damerell A, Davis R, Field R, Frost G, Marshall S, Roddick J, Tesfaye S, Withers H, Suckling R, Smith S, Griffin S, Kaltenthaler E, Peters J, Feder G. Clinical guidelines and evidence review for Type 2 diabetes: management of blood glucose. Sheffield: ScHARR, University of Sheffield, 2002.
• Bennett SM, Quinton R. Congenital hypopituitarism presenting as adult-onset hypogonadotrophic hypogonadism. In: Endocrine Abstracts: 193rd Meeting of the Society for Endocrinology. 2002, London: BioScientifica Ltd.
• Voit T, Parano E, Straub V, Schroder JM, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R. Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. Neuromuscular Disorders 2002, 12(7-8), 623-630.
• Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmuller H. Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene. Neuropediatrics 2002, 33(5), 249-254.
• Mathew CG, Mirza M, Fisher S, King K, Hampe J, Sanderson J, Forbes A, Mansfield J, Cuthbert A, Schreiber S, Lewis CM. Contribution of genetic variants at CARD15 and the chromosome 5q31 locus to Crohn's disease. In: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics. 2002, Baltimore, Maryland, USA: Cell Press.
• Figueiredo FC, Nicholls SM, Easty DL. Corneal epithelial rejection in the rat. Investigative Ophthalmology & Visual Science 2002, 43(3), 729-736.
• Braybrook C, Lisgo S, Doudney K, Henderson D, Marcano ACB, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPx patients. Human Molecular Genetics 2002, 11(22), 2793-2804.
• Clouston HJ, Herbert M, Fenwick J, Murdoch AP, Wolstenholme J. Cytogenetic analysis of human blastocysts. Prenatal Diagnosis 2002, 22(12), 1143-1152.
• Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochemical and Biophysical Research Communications 2002, 291(5), 1283-1286.
• Choo-Kang ATW, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M. Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes 2002, 51(7), 2317-2320.
• He LP, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Research 2002, 30(14), e68.
• Barber T, Almeida M, Curtis A, Ball SG. Developemnt of a protein truncation test for the detection of DAX-1 mutations in AHC. In: 84th Annual Meeting of the American Endocrine Societies. 2002, San Francisco, California, USA.
• Cheetham TD, Bayliss PB. Diabetes insipidus in children. Pathophysiology diagnosis and management. Pediatric Drugs 2002, 4(12), 785-796.
• Fey C, Curtis ARJ, Chinnery PF, Lombes A, Morris CM, Curtis A, Burn J. Did neuroferritinopathy originate in France?. In: European Journal of Human Genetics: European Society of Human Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics. 2002, Strasbourg, France: Nature Publishing Group.
• Kirby J, Menzies FM, Cookson MR, Bushby K, Shaw PJ. Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease. Human Molecular Genetics 2002, 11(17), 2061-2075.
• Goodship JA, O'Sullivan J, Chinnery PF, Ryan AK, Ziakas N, Hall CM, Clarke M. Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: A new autosomal dominant syndrome [11]. Journal of Medical Genetics 2002, 39(3), 221-223.
• Sandhu SS, Ashraff N, Chew K, McEleavy I, Harris M, Henderson P, James A, Figueiredo F. Do ophthalmic topical corticosteroids suppress the hypothalamic-pituitary-adrenal axis in post-keratoplasty patients?. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2002, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Ioannides AS, Chaudhry B, Henderson DJ, Spitz L, Copp AJ. Dorsoventral patterning in oesophageal atresia with tracheo-oesophageal fistula: Evidence from a new mouse model. Journal of Pediatric Surgery 2002, 37(2), 185-191.
• Louden JD, Bartlett K, Reaich D, Edson R, Alexander C, Goodship THJ. Effects of feeding on albumin synthesis in hypoalbuminemic hemodialysis patients. Kidney International 2002, 62(1), 266-271.
• Herron B, Lu W, Rao C, Liu S, Peters H, Bronson RT, Justice M, McDonald JD, Beier DR. Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nature Genetics 2002, 30(2), 185-189.
• Mayosi BM, Keavney B, Kardos A, Davies CH, Ratcliffe PJ, Farrall M, Watkins H. Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass. European Heart Journal 2002, 23(24), 1963-1971.
• Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S. Electrophysiological findings in X-linked myopathy with excessive autophagy. Annals of Neurology 2002, 51(5), 648-652.
• Krause KH, Dresel S, Krause J, Kung HF, Tatsch K, Lochmuller H. Elevated striatal dopamine transporter in a drug naive patient with Tourette syndrome and attention deficit/ hyperactivity disorder: positive effect of methylphenidate. Journal of Neurology 2002, 249(8), 1116-1118.
• Tompson SWJ, Ruiz-Perez V, da Silva EO, Algazali L, Wright M, Goodship J. Ellis- van Creveld: A genetically heterogenous syndrome?. In: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics. 2002, Baltimore, Maryland, USA: Cell Press.
• Straub VA, Staras K, Kemenes G, Benjamin PR. Endogenous and network properties of Lymnaea feeding central pattern generator interneurons. Journal of Neurophysiology 2002, 88(4), 1569-1583.
• Jonker L, Arthur HM. Endoglin expression in early development is associated with vasculogenesis and angiogenesis. Mechanisms of Development 2002, 110(1-2), 193-196.
• Morgan D, Eley L, Sayer J, Strachan T, Yates LM, Craighead AS, Goodship JA. Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle. Human Molecular Genetics 2002, 11(26), 3345-3350.
• Xu P-X, Zheng W, Laclef C, Maire P, Maas RL, Peters H, Xu X. Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Development 2002, 129, 3033-3044.
• Keavney B. Genetic epidemiological studies of coronary heart disease. International Journal of Epidemiology 2002, 31(4), 730-736.
• Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 2002, 58(2), 231-236.
• Vaidya B, Imrie H, Kendall-Taylor P, Pearce SHS. Genome screening for Graves Disease Susceptibility loci in UK families. In: Akamizu T; Kasuga M; Davies TF, ed. The Genetics of Complex Thyroid Diseases. Tokyo: Springer, 2002, pp.23-41.
• Vickers MA, Green FR, Terry C, Mayosi BM, Julier C, Lathrop M, Ratcliffe PJ, Watkins HC, Keavney B. Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein. Cardiovascular Research 2002, 53(4), 1029-1034.
• MacColl G, Quinton R, Bouloux PMG. GnRH neuronal development: Insights into hypogonadotrophic hypogonadism. Trends in Endocrinology and Metabolism 2002, 13(3), 112-118.
• Lako M, Armstrong L, Cairns PM, Harris S, Hole N, Jahoda C. Hair follicle dermal cells repopulate the mouse haematopoietic system. Journal of Cell Science 2002, 115(20), 3967-3974.
• McFarland R, Taylor RW, Chinnery PF, Lightowlers RN, Turnball DM. Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Jones EA, Tosh D, Wilson DI, Lindsay S, Forrester LM. Hepatic differentiation of murine embryonic stem cells. Experimental Cell Research 2002, 272(1), 15-22.
• Chinnery PF, Samuels DC, Brown DT, Turnbull DM. Heteroplasmic mitochondrial DNA mutations: Determining the mechanism of inheritance. In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Autumn Meeting. 2002, Durham: BMJ Group.
• Murdoch A. Human embryonic stem cells: An introduction. Human Fertility 2002, 5(4), 203-205.
• Crosier M, Viggiano L, Guy J, Misceo D, Stones R, Wei WB, Hearn T, Ventura M, Archidiacono N, Rocchi M, Jackson MS. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Research 2002, 12(1), 67-80.
• Torsney E, Charlton R, Parums D, Collis M, Arthur HM. Inducible expression of human endoglin during inflammation and wound healing in vivo. Inflammation Research 2002, 51(9), 464-470.
• Chinnery PF. Inheritance of mitochondrial disorders. Mitochondrion 2002, 2(1-2), 149-155.
• McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Hartley GH, Goodship THJ, Hoenich NA, Hawkins T, Fawcett PRW, McHugh MI, Tapson JS. Is decreased treatment time in hemodialysis patients harmful if solute clearance is maintained?. International Journal of Artificial Organs 2002, 25(9), 844-851.
• MacColl G, Bouloux P, Quinton R. Kallmann syndrome: Adhesion, afferents, and anosmia. Neuron 2002, 34(5), 675-678.
• Chinnery PF, Reading PJ, McCarthy EL, Curtis A, Burn J. Late-onset axial jerky dystonia due to the DYT1 deletion. Movement Disorders 2002, 17(1), 196-198.
• Yu Wai Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. Journal of Medical Genetics 2002, 39(3), 162-169.
• Lifschitz-Mercer B, Elliott DJ, Issakov J, Leider-Trejo L, Schreiber L, Misonzhnik F, Eisenthal A, Maymon B. Localization of a specific germ cell marker, DAZL1, in testicular germ cell neoplasias. Virchows Archiv 2002, 440(4), 387-391.
• Maymon BB-S, Paz G, Elliott DJ, Lifschitz-Mercer B, Yogev L, Kleiman SE, Botchan A, Hauser R, Schreiber L, Yavetz H. Localization of the germ cell-specific protein, hnRNP G-T, in testicular biopsies of azoospermic men. Acta Histochemica 2002, 104(3), 255-261.
• Dashora U, Mathias D, James A, Zammit-Maempel I, Perros P. Management of recurrent pituitary cysts with pituitary-nasal drain. Pituitary 2002, 5(4), 225-233.
• Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S. Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. Annals of Neurology 2002, 51(5), 585-592.
• Mayosi BM, Keavney B, Watkins H, Farrall M. Measured haplotype analysis of the aldosterone synthase gene and cardiac hypertrophy. In: Circulation: American Heart Association Abstracts From Scientific Sessions. 2002, Chicago, Illinois, USA: Lippincott Williams & Wilkins.
• Margison GP, Santibanez Koref MF, Povey AC. Mechanisms of carcinogenicity/chemotherapy by O6-methylguanine. Mutagenesis 2002, 17(6), 483-487.
• Sibal L, Ugwu P, Kendall-Taylor P, Ball SG, James RA, Pearce SHS, Hall K, Quinton R. Medical therapy of macroprolactinomas in males: I. prevalence of hypopituitarism at diagnosis. II. Proportion of cases exhibiting recovery of pituitary function. Pituitary 2002, 5(4), 243-246.
• Turner JMA, Mahadevaiah SK, Elliott DJ, Garchon H-J, Pehrson JR, Jaenisch R, Burgoyne PS. Meiotic sex chromosome inactivation in male mice with targeted disruptions of Xist. Journal of Cell Science 2002, 115(21), 4097-4105.
• Schaefer AM, Taylor RW, Macfarland RM, Chinnery PF. Mitochondrial disease and symptom progression: A complex management issue. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Chinnery PF. Modulating heteroplasmy. Trends in Genetics 2002, 18(4), 173-176.
• Perkins SJ, Goodship THJ. Molecular modelling of the C-terminal domains of factor H of human complement: A correlation between haemolytic uraemic syndrome and a predicted heparin binding site. Journal of Molecular Biology 2002, 316(2), 217-224.
• Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Uzielli MLG, Lapi E, Odent S, Akcoren Z, Topaloglu H, Pelin K. Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscular Disorders 2002, 12(7-8), 674-679.
• Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. American Journal of Human Genetics 2002, 71(4), 739-749.
• Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis ARJ, Craven L, Havarani B, Clement-Jones M, English C, Stumper O, Salmon T, Hutchinson S, Jackson MS, Wilson DI. Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 2002, 79(4), 475-478.
• Yu Wai Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Neurology 2002, 58(12), 1861-1862.
• Chinnery PF, Curtis AR, Fey C, Jackson MJ, Bates D, Morris CM, Bindoff LA, Coulthard A, Ince PG, Curtis A, Burn J. Neuroferritinopathy. Journal of Neurology, Neurosurgery and Psychiatry 2002, 73(2), 213-213.
• Crompton DE, Chinnery PF, Fey C, Curtis ARJ, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Neuroferritinopathy: A window on the role of iron in neurodegeneration. In: Blood Cells, Molecules and Diseases: Meeting on Molecular and Clinical Aspects of Human Iron Metabolism. 2002, Chiemesee, Germany: Academic Press.
• Chinnery PF, Walls TJ, Hanna MG, Bates D, Fawcett PRW. Normokalemic periodic paralysis revisited: Does it exist?. Annals of Neurology 2002, 52(2), 251-252.
• Margison GP, Santibez Koref MF. O6-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy. Bioessays 2002, 24(3), 255-266.
• Smith D, Stringer MD, Wyatt J, O'Meara M, Davison S, Cheetham TD, McClean P. Orthotopic liver transplantation or acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Pediatric Transplantation 2002, 6(2), 166-170.
• Sutherland-Craggs A, Mansfield JC, Hudson M, Cuthbert A, Fisher S, Mathew C, Bartram S, Daly A, Francis R, Thompson NP. Osteoporosis in Crohn's disease is not determined by NOD2 genotype [abstract]. Gut 2002, 50(s2), A80 abstract no. 291.
• Relton CL, Daniel CP, Fisher A, Chase DS, Burn J, Tawn EJ. Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 502(1-2), 61-68.
• Relton CL, Daniel CP, Fisher A, Chase DS, Burn J, Tawn EJ. Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 502(1-2), 61-68.
• Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies. Nature 2002, 418(6896), 417-421.
• Lee WH, Gales K, McCarthy J, Grinfeld E, Figueiredo F. Progressive idiopathic unilateral corneal endotheliopathy - A new disease entity. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2002, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Gerber J-K, Richter T, Kremmer E, Adamski J, Hfler H, Balling R, Peters H. Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus. Journal of Pathology 2002, 197(3), 293-297.
• Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations. Human Molecular Genetics 2002, 19(5), 465-478.
• Figueiredo FC, Kaye SB, Lee WH, Gales K, Mallaiah U. Pterygium surgery: Outcomes using a free conjunctival autograft. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2002, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Young-Min S, Pearce S, Vaidya B. Re: An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies, by Vaidya et al. - Reply. Rheumatology 2002, 41(10), 1213-1213.
• Donne RL, Abbs I, Barany P, Elinder CG, Little M, Conlon P, Goodship THJ. Recurrence of hemolytic uremic syndrome after live related renal transplantation associated with subsequent de novo disease in the donor. American Journal of Kidney Diseases 2002, 40(6), E22.
• Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, Bitoun P, Trump D, Moraine C, Franco B. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. European Journal of Human Genetics 2002, 10(9), 516-520.
• Boese S, Sayer J, Stewart G, Glanville M, Gray MA, Simmons NL. Renal expression of Ca2+-activated Cl- channels. Current Topics in Membranes 2002, 53, 283-307.
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