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

• Bushby K, Muntoni F, Bourke JP. 107th ENMC sponsored workshop - the management of cardiac involvement in muscular dystrophy. Neuromuscular Disorders 2003, 13, 166-172.
• Muntoni F, Valero de Barnabe B, Bittner R, Blake D, van Hokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. 114th ENMC Internation Workshop on Congenital Muscular Dystrophy (CMD). Neuromuscular Disorders 2003, 13(7-8), 579-588.
• Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscular Disorders 2003, 13(7-8), 579-588.
• Chinnery PF, Bindoff LA. 116th ENMC international workshop: The treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands. Neuromuscular Disorders 2003, 13(9), 757-764.
• Frosk P, Greenberg CR, Poulin A, Lamont R, Nylen E, Zaik M, Straub V, Bushby K, Frappier D, Roslin NM, Morgan K, Fujiwara TM, Wrogemann K. A common founder mutation in FKRP causes limb girdle muscular dystrophy type 21 (LGMD21) in both Hutterite and European populations. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Samuels DC, Boys RJ, Henderson DA, Chinnery PF. A compositional segmentation of the human mitochondrial genome is related to heterogeneities in the guanine mutation rate. Nucleic Acids Research 2003, 31(20), 6043-6052.
• Tonkin E, Smith M, Eichhorn P, Jones S, Imamwerdi B, Jackson M, Lindsay S, Carter N, Wang TJ, Ireland M, Burn J, Krantz I, Strachan T. A giant gone encoding a developmentally regulated novel member of the M28 peptidase family is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Capps GJ, Samuels DC, Chinnery PF. A model of the nuclear control of mitochondrial DNA replication. Journal of Theoretical Biology 2003, 221(4), 565-583.
• Allen LA, Achermann JC, Pakarinen P, Kotlar TJ, Huhtaniemi IT, Jameson JL, Cheetham TD, Ball SG. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: Clinical and molecular characteristics. Human Reproduction 2003, 18(2), 251-256.
• Santibanez-Koref MF, Gangeswaran R, Santibanez Koref IP, Shanahan N, Hancock JM. A phylogenetic approach for assessing the significance of missense mutations in disease genes. Human Mutation 2003, 22(1), 51-58.
• O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics 2003, 33(4), 497-501.
• Saunders PTK, Turner JMA, Ruggiu M, Taggart M, Burgoyne PS, Elliott D, Cooke HJ. Absence of mDazl produces a final block on germ cell development at meiosis. Reproduction 2003, 126(5), 589-597.
• Lampe JB, Gossrau G, Kempe A, Fussel M, Schwurack K, Schroder R, Krause S, Kohnen R, Walter MC, Reichmann H, Lochmuller H. Analysis of HLA class I and II alleles in sporadic inclusion-body myositis. Journal of Neurology 2003, 250(11), 1313-1317.
• Figueirdo FC, Adams W. Analysis of outpatient clinic non-attendance in patients after corneal transplantion. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2003, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Ressiniotis T, Griffiths PG, Birch MK, Keers S, Chinnery PF. Apolipoprotein E gene polymorphisms in Primary Open Angle Glaucoma. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2003, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Adams JM, White M, Barker G, Mathers JC, Burn J. Are there socio-economic inequalities in age of resection of colorectal cancer in people with HNPCC?. Familial Cancer 2003, 2(3-4), 169-173.
• Ueda H, Howson JMM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KMD, Smith A, DiGenova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RCJ, Howlett S, Healy B, Smink LJ, Lam ACH, Cordell HJ, Walker NM, Bordin C, Hulme H, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Rønningen KS, Savage DA, Carson DJ, Maxwell AP, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SCL. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease. Nature 2003, 423(6939), 506-511.
• Ma L, Liu J, Wu T, Plikus M, Jiang Bi, TX Q, Liu YH, Müller-Röver S, Peters H, Sundberg J, Maxson R, Maas RL, Chuong CM. ‘Cyclic alopecia’ in Msx2 mutants: defects in hair cycling and hair shaft differentiation. Development 2003, 130, 379-389.
• Birrell G, Lampe A, Richmond S, Bruce SN, Gecz J, Lower K, Wright M, Cheetham TD. Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. Journal of Pediatric Endocrinology and Metabolism 2003, 16(9), 1295-1300.
• Eagle M, Bullock R, Bushby K. By simple non-invasive monitoring, the need for ventilation in Duchenne muscular dystrophy can be predicted. In: Neuromuscular Disorders: 8th International Congress of the World Muscle Society. 2003, Szeged, Hungary: Elsevier Ltd.
• Mathers JC, Mickleburgh I, Chapman PC, Bishop DT, Burn J. Can resistant starch and/or aspirin prevent the development of colonic neoplasia?. Proceedings of the Nutrition Society 2003, 62(1), 51-72.
• Mathers JC, Mickleburgh I, Chapman PC, Bishop DT, Burn J. Can resistant starch and/or aspirin prevent the development of colonic neoplasia? The Concerted Action Polyp Prevention (CAPP) 1 Study. In: 7th International Vahouny Fibre Symposium. 2003, Royal College of Physicians, Edinburgh: Proceedings of the Nutrition Society: Cambridge University Press.
• Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis 2003, 525(1-2), 19-27.
• Wardell, T. M., Ferguson, E., Chinnery, P. F., Borthwick, G. M., Taylor, R. W., Jackson, G., Craft, A. W., Lightowlers, R. N., Howell, N., Turnbull, D. M. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2003, 525(1-2), 19-27.
• Fawcett PRW, Chinnery PP. Chapter 19 Limb girdle muscular dystrophy. Handbook of Clinical Neurophysiology 2003, 2(C), 409-414.
• Fawcett PRW, Chinnery PP. Chapter 27 Facioscapulohumeral muscular dystrophy. Handbook of Clinical Neurophysiology 2003, 2(C), 541-548.
• Chinnery PF, Howel D, Turnbull DM, Johnson MA. Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres. Journal of the Neurological Sciences 2003, 211(1-2), 63-66.
• Farooqi IS, Keogh JM, Yeo GSH, Lank EJ, Cheetham T, O'Rahilly S. Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene. New England Journal of Medicine 2003, 348(12), 1085-1095.
• Wayman J, Mansfield JC, Matthewson K, Richardson DL, Griffin SM. Combined percutaneous and endoscopic procedures for bile duct obstruction: Simultaneous and delayed techniques compared. Hepato-Gastroenterology 2003, 50(52), 915-918.
• Langley P, O'Donnell D, Raine D, Furniss SS, Bourke JP, Murray A. Computer assisted characterization of rapid repetitive electrical activations in the pulmonary veins during atrial fibrillation. In: International Journal of Bifurcation and Chaos in Applied Sciences and Engineering: Meeting on Virtual Tissue Engineering of the Heart. 2003, Leeds, UK: World Scientific Publishing Co. Pte. Ltd.
• Vaidya B, Oakes EJC, Imrie H, Dickinson AJ, Perros P, Kendall-Taylor P, Pearce SHS. CTLA4 gene and Graves' disease: association of Graves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism. Clinical Endocrinology 2003, 58(6), 732-735.
• Goodship J, Garcia CC, Blair HJ, Seager M, Coulthard A, Tennent S, Buddles M, Curtis A. Deficiency of synapsin I, a synaptic vesicle protein, causes epilepsy. In: Journal of Medical Genetics: British Human Genetics Conference. 2003, York, UK: BMJ Group.
• Murdoch AH, Shepherd DE, Mathias KJ, Stevenson EC. Design of a retractable intramedullary nail for the humerus. Bio-Medical Materials & Engineering 2003, 13(3), 297-307.
• Weightman DR, Mallick UK, Fenwick JD, Perros P. Discordant serum thyroglobulin results generated by two classes of assay in patients with thyroid carcinoma - Correlation with clinical outcome after 3 years of follow-up. Cancer 2003, 98(1), 41-47.
• Sayer JA, Carr G, Pearce SHS, Goodship THJ, Simmons NL. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochemical and Biophysical Research Communications 2003, 300(2), 305-310.
• Murdoch JN, Henderson DJ, Doudney K, Gaston-Massuet C, Phillips HM, Paternotte C, Arkell R, Stanier P, Copp AJ. Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Human Molecular Genetics 2003, 12(2), 87-98.
• Szot M, Grigoriev V, Mahadevaiah SK, Ojarikre OA, Tour A, Von Glasenapp E, Rattigan A, Turner JMA, Elliott DJ, Burgoyne PS. Does Rbmy have a role in sperm development in mice?. Cytogenetic and Genome Research 2003, 103(3-4), 330-336.
• Schreiber L, Lifschitz-Mercer B, Paz G, Yavetz H, Elliott DJ, Kula K, Slowikowska-Hilczer J, Maymon BB-S. Double immunolabeling by the RBM and the PLAP markers for identifying intratubular (in situ) germ cell neoplasia of the testis. International Journal of Surgical Pathology 2003, 11(1), 17-20.
• Roberts, R.G., Redfern, C.P.F., Goodship, T.H.J. Effect of insulin upon protein degradation in cultured human myocytes. European Journal of Clinical Investigation 2003, 33(10), 861-867.
• McNamara DM, Holubkov R, Postava L, Ramani R, Janosko K, Mathier M, MacGowan GA, Murali S, Feldman AM, London B. Effect of the Asp298 variant of endothelial nitric oxide synthase on survival for patients with congestive heart failure. Circulation 2003, 107(2), 1598-1602.
• Sandhu SS, Ressiniotis T, Gnanaraj L, Figueiredo FC. Efficacy of silicone punctal plugs in the management of ocular surface disease. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2003, Ft Lauderdale, Florida, USA: ssociation for Research in Vision and Ophthalmology.
• James RA, Quinton R, Ball SG. Endocrinology and systemic disease. In: Harris, PE; Bouloux, P-MG, ed. Endocrinology in Clinical Practice. London: Martin Dunitz, 2003, pp.333-366.
• Boyle P, Autier P, Bartelink H, Baselga J, Boffetta P, Burn J, Burns HJG, Christensen L, Denis L, Dicato M, Diehl V, Doll R, Franceschi S, Gillis CR, Gray N, Griciute L, Hackshaw A, Kasler M, Kogevinas M, Kvinnsland S, La Vecchia C, Levi F, McVie JG, Maisonneuve P, Martin-Moreno JM, Newton Bishop J, Oleari F, Perrin P, Quinn M, Richards M, Ringborg U, Scully C, Siracka E, Storm H, Tubiana M, Tursz T, Veronesi U, Wald N, Weber W, Zaridze DG, Zatonski W, zur Hausen H. European Code Against Cancer and scientific justification: Third version (2003). Annals of Oncology 2003, 14(7), 973-1005.
• Richly E, Chinnery PF, Leister D. Evolutionary diversification of mitochondrial proteomes: Implications for human disease. Trends in Genetics 2003, 19(7), 356-362.
• Eagle M, Mettha J, Bullock R, Bourke J, Gibson MD, Bushby K. Experience of spinal surgery and ventilation in 91 patients with Duchenne muscular dystrophy born between 1970 and 1988. In: Neuromuscular Disorders: 8th International Congress of the World Muscle Society. 2003, Szeged, Hungary: Elsevier Ltd.
• Dunant P, Larochelle N, Thirion C, Stucka R, Ursu D, Petrof BJ, Wolf E, Lochmuller H. Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice. Molecular Therapy 2003, 8(1), 80-89.
• Sayer JA, Pearce SHS. Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes. Clinical Endocrinology 2003, 59(4), 419-421.
• Miles CG, Rankin L, Smith SI, Niksic M, Elgar G, Hastie ND. Faithful expression of a tagged Fugu WT1 protein from a genomic transgene in zebrafish: efficient splicing of pufferfish genes in zebrafish but not mice. Nucleic Acids Research 2003, 31(11), 2795-2802.
• Richards A, Kemp EJ, Liszewski MK, Goodship JA, Wen LS, Atkinson JP, Goodship THJ. Familial haemolytic uraemic syndrome and mutations in membrane cofactor protein (MCP; CD46) of the complement system. In: Molecular Immunology: 9th European Meeting on Complement in Human Disease. 2003, Trieste, Italy: Pergamon.
• Richards A, Kemp EJ, Liszewski K, Goodship JA, Lampe AK, Decorte R, Muslumanoglu H, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship THJ. Familial hemolytic uremic syndrome and mutations in membrane cofactor protein (MCP; CD46) of the complement system. In: Journal of the American Society of Nephrology: 36th Annual Meeting of the American Society of Nephrology. 2003, San Diego, California, USA: American Society of Nephrology.
• Schaefer AM, McFarland R, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation. In: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, CA: American Journal of Human Genetics, Cell Press.
• Goodship THJ. Fibrinogen in hemodialysis: The worst of both worlds?. Kidney International 2003, 63(1), 379-380.
• Relton CL, Jackson A, Burn J. Folic acid - changes in women's knowledge. British Journal of Midwifery 2003, 11(7), 438-441.
• Taylor RW, Jobling MS, Turnbull DM, Chinnery PF. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy. Journal of Medical Genetics 2003, 40(7), -.
• Mirza MM, Fisher SA, King K, Cuthbert AP, Hampe J, Sanderson J, Mansfield J, Donaldson P, Macpherson AJS, Forbes A, Schreiber S, Lewis CM, Mathew CG. Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease. American Journal of Human Genetics 2003, 72(4), 1018-1022.
• Mirza MM, Fisher SA, King K, Cuthbert AP, Hampe J, Sanderson J, Mansfield J, Donaldson P, MacPherson A, Forbes A, Schreiber S, Lewis CM, Mathew CG. Genetic evidence for interaction of the 5Q31 cytokine locus and the CARD15 gene in Crohn's disease. In: Gut: Annual Meeting of the British Society of Gastroenterology. 2003, Birmingham, UK: BMJ Group.
• Relton CL, Wilding CS, Jonas PA, Lynch SA, Tawn EJ, Burn J. Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype. Clinical Genetics 2003, 64(5), 424-428.
• Fisher SA, Moody A, Mirza MM, Cuthbert AP, Hampe J, Macpherson A, Sanderson J, Forbes A, Mansfield J, Schreiber S, Lewis CM, Mathew CG. Genetic variation at the chromosome 16 chemokine gene cluster: Development of a strategy for association studies in complex disease. Annals of Human Genetics 2003, 67(5), 377-390.
• King K, Moody A, Fisher SA, Mirza MM, Cuthbert AP, Hampe J, Sutherland-Craggs A, Sanderson J, MacPherson AJ, Forbes A, Mansfield JC, Schreiber S, Lewis CM, Mathew CG. Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease. International Journal of Immunogenetics 2003, 30(3), 187-190.
• Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic Deletions in MSH2 or MLH1 Are a Frequent Cause of Hereditary Non-Polyposis Colorectal Cancer: Identification of Novel and Recurrent Deletions by MLPA. Human Mutation 2003, 22(6), 428-433.
• Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Genotypes from patients indicate no paternal mitochondrial DNA contribution. Annals of Neurology 2003, 54(4), 521-524.
• Dunant P, Walter MC, Karpati G, Lochmuller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003, 27(5), 624-627.
• Goodship J. Head-to-head genes. In: Journal of Medical Genetics: British Human Genetics Conference. 2003, York, UK: BMJ Group.
• Schneider JE, Bamforth SD, Grieve SM, Clarke K, Bhattacharya S, Neubauer S. High-resolution, high-throughput magnetic paragraph sign resonance imaging of mouse embryonic paragraph sign anatomy using a fast gradient-echo sequence. Magnetic Resonance Materials in Physics, Biology and Medicine 2003, 16(1), 43-51.
• Herbert M, Levasseur M, Homer H, Yallop K, Murdoch A, McDougall A. Homologue disjunction in mouse oocytes requires proteolysis of securin and cyclin B1. Nature Cell Biology 2003, 5(11), 1023-1025.
• Kubisch C, Schoser BG, von During M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmuller H, Schroder JM, Bruning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Annals of Neurology 2003, 53(4), 512-520.
• Sayer JA, Bhatti AA, Jaques B, Nesbitt I. Hyperammonaemic coma post-renal transplantation. Clinical Intensive Care 2003, 14(1-2), 37-40.
• Overman LM, Crosier S, Wood K, Taylor P, Proctor SJ, Dignum H, Angus B, Anderson JJ. IAP survivin in diffuse large B cell lymphoma: Evaluation as a prognostic marker. In: 2nd Joint Meeting of the British Division of the International Academy of Pathology/185th Meeting of the Pathological Society of Great Britian and Ireland. 2003, University of Bristol, Bristol, UK: Journal of Pathology: John Wiley & Sons Ltd.
• Seitz S, Wabetamuth P, Plaschke J, Schackert HK, Karsten U, Santibanez-Koref MF, Schlag PM, Scherneck S. Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines. Genes, Chromosomes & Cancer 2003, 37(1), 29-35.
• Ewart-Toland A, Briassouli P, De Koning JP, Mao J-H, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BAJ, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A. Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Nature Genetics 2003, 34(4), 403-412.
• Quinton R, Robertson A, MacColl GS. Idiopathic hypogonadotrophic hypogonadism and abnormalities of the GnRH pulse generator. Topical Endocrinology 2003, 22, 15-20.
• Pohwani AL, Murali S, Mathier MM, Tokarczyk T, Kormos RL, McNamara DM, MacGowan GA. Impact of beta-blocker therapy on functional capacity criteria for heart transplant listing. Journal of Heart and Lung Transplantation 2003, 22(1), 78-86.
• Humphries SE, Hawe E, Dhamrait S, Miller GJ, Talmud PJ, Montgomery H, Dansek AH, Keavney B, Parish S, Lathrop M, Peto R, Collins R. In search of genetic precision. Lancet 2003, 361(9372), 1908-1910.
• Keaveny B, Parish S, Lathrop M, Peto R, Collins R. In search of genetic precision - Reply. Lancet 2003, 361(9372), 1909-1910.
• Murdoch AP. In vitro fertilisation for all? Society must hear the voices of infertile people.[comment]. British Medical Journal 2003, 327(7425), 1226-1226.
• Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NMLA, Lochmuller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schoneborn S, Hubner C. Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1). Annals of Neurology 2003, 54(6), 719-724.
• Wilson IJ, Weale ME, Balding DJ. Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities. Journal of the Royal Statistical Society, Series A: Statistics in Society 2003, 166(2), 155-188.
• Otto EA, Schermer B, Obara T, O'Toole JF, Landau D, Goodship JA, Strachan T, Antignac C, Walz G, Drummond LA, Benzing T, Hildebrandt F. Inversin mutations cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. In: Journal of the American Society of Nephrology: 36th Annual Meeting of the American Society of Nephrology. 2003, San Diego, California, USA: American Society of Nephrology.
• McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. NeuroReport 2003, 14(3), 485-488.
• James RM, Arends MJ, Plowman SJ, Brooks DG, Miles CG, West JD, Patek CE. K-ras proto-oncogene exhibits tumor suppressor activity as its absence promotes tumorigenesis in murine teratomas. Molecular Cancer Research 2003, 1(11), 820-825.
• Schreiber L, Lifschitz-Mercer B, Paz G, Yavetz H, Zadik Z, Kula K, Slowikowska-Hilczer J, Rey R, Elliott DJ, Maymon BB-S. Lack of RBM expression as a marker for carcinoma in situ of prepubertal dysgenetic testis. Journal of Andrology 2003, 24(1), 78-84.
• Keavney B, Parish S, Palmer A, Clark S, Youngman L, Danesh J, McKenzie C, Delepine M, Lathrop M, Peto R, Collins R. Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E ε2/ε3/ε4 genotype. Lancet 2003, 361(9355), 396-398.
• Howse MLP, Wardell TM, Fisher CJ, Tilley PJB, Chinnery PF, Bindoff L. Late-onset mitochondrial disorder with electromyographic evidence of myotonia. Muscle and Nerve 2003, 28(6), 757-759.
• Sharma SD, Murdoch A. Letter to the editor. Human Fertility 2003, 6(2), 96.
• Gunn MC, Cavin AA, Mansfield JC. Management of irritable bowel syndrome. Postgraduate Medical Journal 2003, 79(929), 154-158.
• Mayosi BM, Keavney B, Watkins H, Farrall M. Measured haplotype analysis of the aldosterone synthase gene and heart size. European Journal of Human Genetics 2003, 11(5), 395-401.
• Miles CG, Slight J, Spraggon L, O'Sullivan M, Patek C, Hastie ND. Mice Lacking the 68-Amino-Acid, Mammal-Specific N-Terminal Extension of WT1 Develop Normally and Are Fertile. Molecular and Cellular Biology 2003, 23(7), 2608-2613.
• Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K, Rappold G. Missense Mutations and Gene Interruption in PROSIT240, a Novel TRAP240-Like Gene, in Patients with Congenital Heart Defect (Transposition of the Great Arteries). Circulation 2003, 108(23), 2843-2850.
• Chinnery PF, Schon EA. Mitochondria. Journal of Neurology, Neurosurgery and Psychiatry 2003, 74(9), 1188-1199.
• Chinnery PF, Schon EA. Mitochondria. Journal of Neurology, Neurosurgery and Psychiatry 2003, 74(9), 1188-1199.
• Chinnery PF. Mitochondrial disorders come full circle. Neurology 2003, 61(7), 878-880.
• Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations and aging in human colonic crypts and stem cells. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations in human colonic crypt stem cells. Journal of Clinical Investigation 2003, 112(9), 1351-1360.
• Chinnery PF, Turnbull DM. Mitochondrial encephalomyopathies. In: Warrell, D.A., Cox, T.M., Firth, J.D, ed. Oxford Textbook of Medicine. Oxford: Oxford University Press, 2003.
• Wagner A, Barrows A, Wijnen JTh, Van Der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, Van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, De La Chapelle A, Lynch HT, Fodde R. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. American Journal of Human Genetics 2003, 72(5), 1088-1100.
• Torsney E, Charlton R, Diamond AG, Burn J, Soames JV, Arthur HM. Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality. Circulation 2003, 107(12), 1653-1657.
• Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Dominant. Seattle, USA: University of Washington, 2003.
• Patek CE, Fleming S, Miles CG, Bellamy CO, Ladomery M, Spraggon L, Mullins J, Hastie ND, Hooper ML. Murine Denys-Drash syndrome: Evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. Human Molecular Genetics 2003, 12(18), 2379-2394.
• Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SDM, Gray IC, Murdoch JN. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Current Biology 2003, 13(13), 1129-1133.
• Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmuller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Human Mutation 2003, 22(2), 129-135.
• Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SHS. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. Journal of Clinical Endocrinology and Metabolism 2003, 88(12), 6034-6039.
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