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

• Mewasingh LD, Hussein N, Chinnery PF, Taylor RW. A case of progressive neuronal degeneration of childhood with severe mitochondrial respiratory chain deficiencies. In: Developmental Medicine and Child Neurology: 31st annual meeting of the British Paediatric Neurology Association. 2006, Bristol, UK: Mac Keith Press.
• Gooding C, Clark F, Wollerton MC, Grellscheid SN, Groom H, Smith CW. A class of human exons with predicted distant branch points revealed by analysis of AGdinucleotide exclusion zones. Genome Biology 2006, 7(1), R1.
• Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nature Genetics 2006, 38(10), 1173-1177.
• Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscular Disorders 2006, 16(9-10), 571-582.
• Watkins SJ, Jonker L, Arthur HM. A direct interaction between TGFβ activated kinase 1 and the TGFβ type II receptor: Implications for TGFβ signalling and cardiac hypertrophy. Cardiovascular Research 2006, 69(2), 432-439.
• Pearson SJ, Wharton S, Watson AJ, Begum G, Butt A, Glynn N, Williams DM, Shibata T, Santibanez-Koref MF, Margison GP. A novel DNA damage recognition protein in Schizosaccharomyces pombe. Nucleic Acids Research 2006, 34(8), 2347-2354.
• Lee YS, Challis BG, Thompson DA, Yeo GSH, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CCC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS. A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance. Cell Metabolism 2006, 3(2), 135-140.
• Hernandez-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics 2006, 15(1), 129-142.
• Sayer JA. Acute renal failure from contrast medium - Beware patients taking metformin.... British Medical Journal 2006. ,333 7569 653.
• Burn DJ, Tiangyou W, Allcock LM, Davison J, Chinnery PF. Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease. Parkinsonism & Related Disorders 2006, 12(3), 139-141.
• Elliott DJ, Grellscheid SN. Alternative RNA splicing regulation in the testis. Reproduction 2006. , 132(6), 811-819.
• Hu YF, Zhang ZJ, Sieber-Blum M. An Epidermal Neural Crest Stem Cell (EPI-NCSC) Molecular Signature. Stem Cells 2006, 24(12), 2692-2702.
• Teare MD, Heighway J, Santibanez Koref MF. An expectation-maximization algorithm for the analysis of allelic expression imbalance. American Journal of Human Genetics 2006, 79(3), 539-543.
• Saunders RE, Goodship THJ, Zipfel PF, Perkins SJ. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: Insights into the structural consequences of disease-associated mutations. Human Mutation 2006, 27(1), 21-30.
• Yu Wai Man CY, Smith T, Chinnery PF, Turnbull DM, Griffiths PG. Assessment of visual function in chronic progressive external ophthalmoplegia. Eye 2006, 20(5), 564-568.
• Imrie H, Freel M, Mayosi BM, Davies E, Fraser R, Ingram M, Cordell HJ, Farrall M, Avery PJ, Watkins H, Keavney B, Connell JMC. Association between aldosterone production and variation in the 11β-hydroxylase (CYP11B1) gene. Journal of Clinical Endocrinology and Metabolism 2006, 91(12), 5051-5056.
• Straub VA, Kemenes I, O'Shea M, Benjamin PR. Associative memory stored by functional novel pathway rather than modifications of preexisting neuronal pathways. Journal of Neuroscience 2006, 26(15), 4139-4146.
• Kavanagh D, Goodship THJ, Richards A. Atypical haemolytic uraemic syndrome. British Medical Bulletin 2006. , 77-78(1), 5-22.
• Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship THJ. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Medicine 2006, 3(10), e431 (1957-1967).
• Goodship THJ. Atypical HUS and complement dysregulation. Journal of the American Society of Nephrology 2006. , 17(7), 1775-1776.
• Lim EL, Macleod I, Carr D, Manas D, Quinton R, James RA. Carcinoid tumour: spontaneous regression following pregnancy. In: Endocrine Abstracts: 8th European Congress of Endocrinology.2006,Glasgow, UK:BioScientifica Ltd.
• Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Solomon SD, Kim K, Tang J, Rosenstein RB, Wittes J, Corle D, Hess TM, Woloj GM, Boisserie F, Anderson WF, Viner JL, Bagheri D, Burn J, Chung DC, Dewar T, Foley TR, Hoffman N, Macrae F, Pruitt RE, Saltzman JR, Salzberg B, Sylwestrowicz T, Gordon GB, Hawk ET. Celecoxib for the prevention of sporadic colorectal adenomas. New England Journal of Medicine 2006, 355(9), 873-884.
• Sieber-Blum M, Schnell L, Grim M, Hu YF, Schneider R, Schwab M. Characterization of epidermal neural crest stem cell (EPI-NCSC) grafts in the lesioned spinal cord. Molecular and Cellular Neuroscience 2006, 32(1-2), 67-81.
• McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 2006, 67(1), 45-51.
• Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Ploger H, Muller-Hocker J, Pongratz DE, Naini A, Di Mauro S, Lochmuller H. Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006, 66(2), 253-255.
• Pepe G, Lucarini L, Zhang R-Z, Pan T-C, Giusti B, Quijano-Roy S, Gartioux C, Bushby KMD, Guicheney P, Chu M-L. COL6A1 genomic deletions in bethlem myopathy and ullrich muscular dystrophy. Annals of Neurology 2006, 59(1), 190-195.
• Davin JC, Olie KH, Verlaak R, Horuz F, Florquin S, Weening JJ, Groothoff JW, Strain L, Goodship THJ. Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment. American Journal of Kidney Diseases 2006, 47(2), e27-e30.
• Ioannidou-Kadis S, Wright PJ, Neely RD, Quinton R. Complete reversal of adult-onset isolated hypogonadotropic hypogonadism with clomiphene citrate. Fertility and Sterility 2006, 86(5), 1513 e5-e9.
• Ahmad S, Figueiredo F, Lako M. Corneal epithelial stem cells: characterization, culture and transplantation. Regenerative Medicine 2006. , 1(1), 29-44.
• Chinnery PF. Could it be mitochondrial? When and how to investigate. Practical Neurology 2006. , 6(2), 90-101.
• Sultan A, Velaga MR, Fleet M, Cheetham T. Cullen's sign and massive ovarian enlargement secondary to primary hypothyroidism in a patient with a normal FSH receptor. Archives of Disease in Childhood 2006, 91(6), 509-510.
• Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship THJ. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Human Mutation 2006, 27(3), 292-293.
• Zhang X, Stojkovic P, Przyborski S, Cooke M, Armstrong L, Lako M, Stojkovic M. Derivation of human embryonic stem cells from developing and arrested embryos. Stem Cells 2006, 24(12), 2669-2676.
• Peaston RT, Ball SG, Quinton R, James RA, Pearce SHS, Lennard TWJ, Neely RDG. Detection of phaeochromocytoma: The emerging role of plasma metanephrines. In: 8th European Congress of Endocrinology. 2006, Glasgow: BioScientifica.
• Fisher SA, Hampe J, Onnie CM, Daly MJ, Curley C, Purcell S, Sanderson J, Mansfield J, Annese V, Forbes A, Lewis CM, Schreiber S, Rioux JD, Mathew CG. Direct or indirect association in a complex disease: The role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Human Mutation 2006, 27(8), 778-785.
• Pan-Hammarstrom Q, Lahdesmaki A, Zhao Y, Du L, Zhao Z, Wen S, Ruiz-Perez VL, Dunn-Walters DK, Goodship JA, Hammarstrom L. Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation. Journal of Experimental Medicine 2006, 203(1), 99-110.
• Carr G, Simmons NL, Sayer JA. Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells. Cellular and Molecular Life Sciences 2006, 63(3), 367-377.
• Wilding CS, Relton CL, Rees G, Whitehouse C, Tarone R, Tawn EJ. DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2006,570 1 137-145.
• Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship THJ. Does complement factor B have a role in the pathogenesis of atypical HUS?. Molecular Immunology 2006, 43(7), 856-859.
• Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006, 313(5795), 1975-1978.
• Choudhary M, Nesbitt M, Leary C, Murdoch AP. Donation of fresh oocytes for nuclear transfer research - a new approach. Reproductive BioMedicine Online 2006. , 13(2), 301-302.
• Vaideanu D, Taylor P, McAndrew P, Hildreth A, Deady JP, Steel DH. Double masked randomised controlled trial to assess the effectiveness of paracetamol in reducing pain in panretinal photocoagulation. British Journal of Ophthalmology 2006, 90(6), 713-717.
• Venables JP, Burn J. EASI - Enrichment of alternatively spliced isoforms. Nucleic Acids Research 2006, 34(15), e103.
• Arundell M, Patel BA, Straub V, Allen MC, Janse C, O'Hare D, Parker K, Gard PR, Yeoman MS. Effects of age on feeding behavior and chemosensory processing in the pond snail, Lymnaea stagnalis. Neurobiology of Aging 2006,27 12 1880-1891.
• Hunt PA, Greaves I, Owens WA. Emergency thoracotomy in thoracic trauma – a review. Injury 2006, 37(1), 1-19.
• Van Laake LW, Van Den Driesche S, Post S, Feijen A, Jansen MA, Driessens MH, Mager JJ, Snijder RJ, Westermann CJJ, Doevendans PA, Van Echteld CJA, Ten Dijke P, Arthur HM, Goumans M-J, Lebrin F, Mummery CL. Endoglin has a crucial role in blood cell-mediated vascular repair. Circulation 2006, 114(21), 2288-2297.
• Armstrong L, Lako M, Dean W, Stojkovic M. Epigenetic modification is central to genome reprogramming in somatic cell nuclear transfer. Stem Cells 2006. , 24(4), 805-814.
• Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. American Journal of Human Genetics 2006, 79(2), 303-312.
• Cordell HJ. Estimation and Testing of Genotype and Haplotype Effects in Case-Control Studies: Comparison of Weighted Regression and Multiple Imputation Procedures. Genetic Epidemiology 2006,30 3 259-275.
• Schreiner B, Voss J, Wischhusen J, Dombrowski Y, Steinle A, Lochmuller H, Dalakas M, Melms A, Wiendl H. Expression of toll-like receptors by human muscle cells in vitro and in vivo: TLR3 is highly expressed in inflammatory and HIV myopathies, mediates IL-8 release and up-regulation of NKG2D-ligands. FASEB Journal 2006, 20(1), 118-120.
• Goodship THJ. Factor H genotype-phenotype correlations: Lessons from aHUS, MPGN II, and AMD. Kidney International 2006. , 70(1), 12-13.
• Burn J, Sims AJ, Ford GA, Murray A. Factors affecting the use of cumulative sums in the analysis of circadian blood pressure. Physiological Measurement 2006, 27(6), 529-538.
• Saland JM, Emre SH, Shneider BL, Benchimol C, Ames S, Bromberg JS, Remuzzi G, Strain L, Goodship THJ. Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. American Journal of Transplantation 2006, 6(8), 1948-1952.
• Keenan ID, Sharrard RM, Isaacs HV. FGF signal transduction and the regulation of Cdx gene expression. Developmental Biology 2006, 299(2), 478-88.
• Keavney B, Danesh J, Parish S, Palmer A, Clark S, Youngman L, Delepine M, Lathrop M, Peto R, Collins R. Fibrinogen and coronary heart disease: Test of causality by 'Mendelian randomization'. International Journal of Epidemiology 2006, 35(4), 935-943.
• Ogawa T, Kapadia H, Feng JQ, Raghow R, Peters H, D'Souza RN. Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development. Journal of Biological Chemistry 2006, 281(27), 18363-18369.
• Thomas RM, Bliss R, Richardson D, Johnson S, Turner S, Bennett SM, Quinton R. Functioning adrenocortical carcinoma and the clinical endocrinologist: toxic treatments and poor prognosis. In: Endocrine Abstracts: 8th European Congress of Endocrinology.2006,Glasgow, UK:BioScientifica Ltd.
• Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2006,17 7 2017-2025.
• Owen CJ, Eden JA, Jennings CE, Wilson V, Cheetham TD, Pearce SHS. Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population. Journal of Molecular Endocrinology 2006, 37(1), 97-104.
• Pearce SHS, Merriman TR. Genetic progress towards the molecular basis of autoimmunity. Trends in Molecular Medicine 2006. , 12(2), 90-98.
• Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006, 108(4), 1267-1279.
• Wilding CS, Rees GS, Relton CL, Tawn EJ. Genotype profiles of loci encoding DNA repair enzymes in newborn and elderly populations: No evidence of association with longevity. Biogerontology 2006, 7(1), 35-41.
• Schroers A, Kley RA, Stachon A, Horvath R, Lochmuller H, Zange J, Vorgerd M. Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 2006, 66(2), 285-286.
• Park J-G, Kim D-W, Hong CW, Nam B-H, Shin Y-K, Hong S-H, Kim I-J, Lim S-B, Aronson M, Bisgaard ML, Brown GJ, Burn J, Chow E, Conrad P, Douglas F, Dunlop M, Ford J, Greenblatt MS, Heikki J, Heinimann K, Lynch EL, Macrae F, McKinnon WC, Moeslein G, Rossi BM, Rozen P, Schofield L, Vaccaro C, Vasen H, Velthuizen M, Viel A, Wijnen J. Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International society for gastrointestinal hereditary tumours collaborative study. Clinical Cancer Research 2006, 12(11), 3389-3393.
• Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer HJ, Setzer B, Walker U, Horváth R. Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations. Archives of Neurology 2006,63 8 1129-1134.
• Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age - The GenePD study. Neurology 2006, 67(12), 2206-2210.
• Dharmaraj P, Ball S, Johnstone H, Bailey S, Clifford SC, Hale J, Cheetham T. Hypercalcaemia in relapsed medulloblastoma 8 years post-diagnosis; evidence to support PTHrP production by medulloblastoma cells. Hormone Research 2006, 66(6), 268-272.
• Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatric Nephrology 2006, 21(1), 32-35.
• Muller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Muller-Felber W, Abicht A, Lochmuller H. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006, 67(7), 1159-1164.
• Nayernia K, Nolte J, Michelmann HW, Lee JH, Rathsack K, Drusenheimer N, Dev A, Wulf G, Ehrmann IE, Elliott DJ, Okpanyi V, Zechner U, Haaf T, Meinhardt A, Engel W. In Vitro-Differentiated Embryonic Stem Cells Give Rise to Male Gametes that Can Generate Offspring Mice. Developmental Cell 2006, 11(1), 125-132.
• Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Human Molecular Genetics 2006,15 11 1847-1857.
• Sun M, Latourelle JC, Wooten F, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for Parkin mutation on onset age in familial Parkinson disease The GenePD study. Archives of Neurology 2006, 63(6), 826-832.
• Hall DH, Rahman T, Avery PJ, Keavney B. INSIG-2 promoter polymorphism and obesity related phenotypes: Association study in 1428 members of 248 families. BMC Medical Genetics 2006, 7(83).
• Barksby HE, Hui W, Wappler I, Peters HH, Milner JM, Richards CD, Cawston TE, Rowan AD. Interleukin-1 in combination with oncostatin M up-regulates multiple genes in chondrocytes - Implications for cartilage destruction and repair. Arthritis & Rheumatism 2006, 54(2), 540-550.
• Lotto AA, Owens WA. Intraoperative doppler velocity measurements to locate patent ITA grafts at reoperation. Annals of Thoracic Surgery 2006, 82(3), 1108-1110.
• Wilkes S, Murdoch A, Rubin G, Chinn D, Wilsdon J. Investigation of infertility management in primary care with open access hysterosalpingography (HSG): A pilot study. Human Fertility 2006, 9(1), 47-51.
• Durham SE, Samuels DC, Chinnery PF. Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?. Neuromuscular Disorders 2006, 16(6), 381-386.
• Ibrahim IM, Lim EL, Razvi S, Pearce SHS, Leach N, Bennett SM, Mitra D, Wilsdon J, Baborie A, Johnson S, Burt AD, Wood K, Jones G, Windebank K, Pritchard J, Record CO, Quinton R. Langerhans cell histiocytosis: management dilemma for the adult endocrinologist. In: Endocrine Abstracts: 8th European Congress of Endocrinology.2006,Glasgow, UK:BioScientifica Ltd.
• Horvath R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmuller H, Klopstock T, Jaksch M. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). Journal of Neurology, Neurosurgery and Psychiatry 2006, 77(1), 74-76.
• Arun CS, Mitra D, Ball SG, Hill J, Lewis J, Quinton R. Macroprolactinoma with progressive resistance to high-dose cabergoline. In: Endocrine Abstracts: 197th Meeting of the Society for Endocrinology.2006,London, UK:BioScientifica Ltd.
• Steele C, Steel D, Bone H, McParland L, Green L, Fraser S. Managing 'suspicious glaucomatous discs' identified during digital-photography-based diabetic retinopathy screening. Ophthalmic and Physiological Optics 2006, 26(1), 19-25.
• Stewart R, Stojkovic M, Lako M. Mechanisms of self-renewal in human embryonic stem cells. European Journal of Cancer 2006, 42(9), 1257-1272.
• Kavanagh D, Goodship THJ. Membrane cofactor protein and factor I: Mutations and transplantation. Seminars in Thrombosis and Hemostasis 2006, 32(2), 155-159.
• Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: A scale to monitor progression and treatment. Neurology 2006, 66(12), 1932-1934.
• de Alwis NM, Mowbray C, Keers S, Aithal G, Henderson E, Chinnery P, Day C. Mitochondrial DNA haplogrouping in non alcoholic fatty liver disease (NAFLD). In: Hepatology: 57th Annual Meeting of the American Association for the Study of Liver Diseases. 2006, Boston, Massachusetts, USA: John Wiley & Sons, Inc.
• Wilding CS, Cadwell K, Tawn EJ, Relton CL, Taylor GA, Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation. Radiation Research 2006, 165(2), 202-207.
• Hudson G, Chinnery PF. Mitochondrial DNA polymerase-γ and human disease. Human Molecular Genetics 2006. , 15(Review Issue 2), R244-R252.
• Deschauer M, Schroers A, Joshi PR, Knape M, Glaeser D, Aasly J, Chinnery PF, Zierz S, Vorgerd M. Molecular genetic analysis in a large cohort of patients with McArdle disease. In: 11th International Congress on Neuromuscular Diseases. 2006, Istanbul, Turkey: Neuromuscular Disorders: Pergamon.
• Muntoni F, Bushby K, Manzur AY. Muscular dystrophy campaign funded workshop on management of scoliosis in Duchenne muscular dystrophy 24 January 2005, London, UK. Neuromuscular Disorders 2006, 16(3), 210-219.
• Longley MJ, Clark S, Man CYW, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia. American Journal of Human Genetics 2006, 78(6), 1026-1034.
• King K, Sheikh MF, Cuthbert AP, Fisher SA, Onnie CM, Mirza MM, Pattni RC, Sanderson J, Forbes A, Mansfield J, Lewis CM, Roberts RG, Mathew CG. Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15. Human Mutation 2006, 27(1), 44-54.
• Pitteloud N, Meysing A, Quinton R, Acierno JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Mad J, Bouloux P-MG, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Molecular & Cellular Endocrinology 2006,254-255 60-69.
• Smith TG, Karlsson M, Lunn JS, Eblaghie MC, Keenan ID, Farrell ER, Tickle C, Storey KG, Keyse SM. Negative feedback predominates over cross-regulation to control ERK MAPK activity in response to FGF signalling in embryos. FEBS Letters 2006, 580(17), 4242-4245.
• Burn J, Chinnery PF. Neuroferritinopathy. Seminars in Pediatric Neurology 2006. , 13(3), 176-181.
• Bresin E, Daina E, Noris M, Castelletti F, Stefanov R, Hill P, Goodship THJ, Remuzzi G, Int Registry Recurrent Familial. Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: Prognostic significance-of genetic background. Clinical Journal of the American Society of Nephrology 2006, 1(1), 88-99.
• Biernacka JM, Cordell HJ. Perils and pitfalls of permutation tests for distinguishing the effects of neighbouring polymorphisms. Genetic Epidemiology 2006, 30(7), 582-589.
• Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006, 129(7), 1674-1684.
• Sarkozy A, Goldfarb L, Charlton R, Eagle M, Chinnery PM, Straub V, Bushby K. Phenotypic variability associated with desmin gene mutations. In: 11th International Congress of the World Muscle Society. 2006, Bruges, Belgium: Neuromuscular Disorders: Pergamon.
• Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ, Chinnery PF. POLG1 in idiopathic Parkinson disease. Neurology 2006, 67(9), 1698-1700.
• Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He L-P, Blakely E, Turnbull DM, Chinnery PF. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006, 66(9), 1439-1441.
• Adams WE, Habib M, Berrington A, Koerner R, Steel DH. Postoperative endophthalmitis caused by Sphingomonas paucimobilis. Journal of Cataract and Refractive Surgery 2006, 32(7), 1238-1240.
• MacGowan GA, Kirk JA, Evans C, Shroff SG. Pressure-calcium relationships in perfused mouse hearts. American Journal of Physiology: Heart and Circulatory Physiology 2006, 290(6), H2614-H2624.
• Steel D, Habib M, Owen R. Preventing recurrent vitreous hemorrhage. Ophthalmology 2006, 113(12), 2373-2374; author reply 2374.
• Durham SE, Brown DT, Turnbull DM, Chinnery PF. Progressive depletion of mtDNA in mitochondrial myopathy. Neurology 2006, 67(3), 502-504.
• Razvi S, Ashwell S, Korbonits M, Quinton R. Prolactinomas: all in the family?. In: Endocrine Abstracts: 197th Meeting of the Society for Endocrinology.2006,London, UK:BioScientifica
• McMillan C, Bradley C, Razvi S, Weaver J. Psychometric evaluation of a new questionnaire measuring treatment satisfaction in hypothyroidism: The ThyTSQ. Value in Health 2006, 9(2), 132-139.
• Opitz JM, Burn J. RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi. American Journal of Medical Genetics, Part A 2006, 140(21), 2385.
• Habib MS, Byrne S, McCarthy JH, Steel DH. Refractile superficial retinal crystals and chronic retinal detachment: case report. BMC Ophthalmology 2006, 6, 3.
• Manvikar S, Steel D. Refractive lens exchange combined with pars plana vitrectomy to correct high myopia. Eye 2006, 20(12), 1399-1400; author reply 1399.
• Smith MC, Murdoch AP, Danielson LA, Conrad KP, Davison JM. Relaxin has a role in establishing a renal response in pregnancy. Fertility and Sterility 2006, 86(1), 253-255.
• Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?. Journal of Medical Genetics 2006, 43(2), 175-179.
• Ye Z, Liu EH, Higgins JP, Keavney BD, Lowe GD, Collins R, Danesh J. Seven haemostatic gene polymorphisms in coronary disease: Meta-analysis of 66 155 cases and 91 307 controls. The Lancet 2006, 367(9511), 651-658.
• Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscular Disorders 2006, 16(9-10), 553-558.
• Homer HA, McDougall A, Levasseur M, Murdoch AP, Herbert M. Spindle assembly checkpoint dysfunction: A molecular correlate for human aneuploidy. In: Journal of the Society for Gynecologic Investigation: 53rd Annual Scientific Meeting of the Society for Gynecologic Investigation. 2006, Toronto, Canada: Sage Publications, Inc..
• Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. European Journal of Neurology 2006, 13(9), 923-929.
• Boxall MC, Goodship THJ, Brown AL, Ward MC, Von Zglinicki T. Telomere shortening and haemodialysis. Blood Purification 2006, 24(2), 185-189.
• Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics 2006. , 38(6), 674-681.
• Straub V, Bushby K. The Childhood Limb-Girdle Muscular Dystrophies. Seminars in Pediatric Neurology 2006. , 13(2), 104-114.
• Reis A, Levasseur M, Chang H-Y, Elliott DJ, Jones KT. The CRY box: A second APC^cdh1-dependent degron in mammalian cdc20. EMBO Reports 2006,7 10 1040-1045.
• Burn J. The current status of chemoprevention in FAP: Commentary. Familial Cancer 2006, 5(3), 295-296.
• Armstrong L, Lako M. The future of human nuclear transfer?. Stem Cell Reviews 2006. , 2(4), 351-358.
• Lawford-Davies J. The Implications of the Human Tissue Act 2004. Clinical Risk 2006, 12(3), 92-95.
• Quinton R, Veeratterapillay R, Neely RD. The investigation and management of critical hyponatraemia. In: Endocrine Abstracts: 197th Meeting of the Society for Endocrinology.2006,London:BioScientifica
• Hildebrandt F, Sayer JA. The Medullary Cystic Kidney Disease: Nephronophthisis Complex. In:Shrier, R., ed. Diseases of the Kidney and Urinary Tract: Clinicopathologic Foundations of Medicine.Philadelphia, USA; London, UK:Lippincott Williams and Wilkins,2006.
• Kent L, Lambert C, Pyle A, Elliott H, Wheelwright S, Baron-Cohen S, Chinnery PF. The Mitochondrial DNA A3243A>G Mutation Must Be An Infrequent Cause Of Asperger Syndrome. Journal of Pediatrics 2006. , 149(2), 280-280.
• Samuels DC, Carothers AD, Horton R, Chinnery PF. The power to detect disease associations with mitochondrial DNA haplogroups. American Journal of Human Genetics 2006, 78(4), 713-720.
• Andrews R, Ressiniotis T, Turnbull DM, Birch M, Keers S, Chinnery PF, Griffiths PG. The role of mitochondrial haplogroups in primary open angle glaucoma. British Journal of Ophthalmology 2006, 90(4), 488-490.
• Armstrong L, Hughes O, Yung S, Hyslop L, Stewart R, Wappler I, Peters H, Walter T, Stojkovic P, Evans J, Stojkovic M, Lako M. The role of PI3K/AKT, MAPK/ERK and NFκβ signalling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis. Human Molecular Genetics 2006, 15(11), 1894-1913.
• Thornton JK, Dalgleish C, Venables JP, Sergeant KA, Ehrmann IE, Lu X, Saunders PTK, Elliott DJ. The tumour-suppressor protein ASPP1 is nuclear in human germ cells and can modulate ratios of CD44 exon V5 spliced isoforms in vivo. Oncogene 2006, 25(22), 3104-3112.
• Borthwick GM, Johnson AS, Partington M, Burn J, Wilson R, Arthur HM. Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanism. The FASEB Journal 2006, 20(12), 2009-2016.
• Hu B, Nadiri A, Kuchler-Bopp S, Perrin-Schmitt F, Peters H, Lesot H. Tissue engineering of tooth crown, root, and periodontium. Tissue Engineering 2006, 12(8), 2069-2075.
• Keavney B. Toll the bell for another genetic association?. European Heart Journal 2006. , 27(21), 2489-2490.
• Brown D, Herbert M, Lamb V, Chinnery PF, Taylor R, Lightowlers R, Craven L, Cree L, Gardner JL, Turnbull DM. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006, 368(9529), 87-89.
• Chinnery PF, Vissing J. Treating MNGIE: Is reducing blood nucleosides the first cure for a mitochondrial disorder?. Neurology 2006. , 67(8), 1330-1332.
• Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database of Systematic Reviews 2006. , (1), CD004426.
• McFarland R, Schaefer AM, Blakely EL, Foster S, Ramesh V, Dorman PJ, Chinnery PF, Turnbull DM, Taylor RW. Two novel twists in mitochondrial dystonia. 2006, Journal of Inherited Metabolic Disease.
• Skeie GO, Aurlien H, Muller JS, Lochmuller H, Norgard G, Bindoff LA. Unusual features in a boy with the rapsyn N88K mutation. Neurology 2006, 67(12), 2262-2263.
• Henderson DJ, Phillips HM, Chaudhry B. Vang-like 2 and noncanonical Wnt signaling in outflow tract development. Trends in Cardiovascular Medicine 2006. , 16(2), 38-45.
• Razvi S, Vaidya B, Perros P, Pearce SHS. What is the evidence behind the evidence-base? The premature death of block-replace antithyroid drug regimens for Graves' disease. European Journal of Endocrinology 2006, 154(6), 783-786.
• Taylor RW, Schaefer AM, Blakely EL, He L, McFarland R, Whittaker RG, Chinnery PF, Turnbull DM. [abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults. Journal of Inherited Metabolic Disease 2006, 29(s1), 44.