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

• Razvi S, Perros P. A 52-year-old female with a hoarse voice and tingling in the hand. PLOS MEDICINE 2007, 4(3), 443-446.
• Zappaterra MD, Lisgo SN, Lindsay S, Gygi SP, Walsh CA, Ballif BA. A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. Journal of Proteome Research 2007, 6(9), 3537-3548.
• Biernacka JM, Cordell HJ. A composite likelihood approach for inference on directly associated polymorphisms. In: Genetic Epidemiology. 2007, St. Petersburg, Florida: John Wiley & Sons, Inc.
• Wilson IJ, Dawson KJ. A Markov chain Monte Carlo strategy for sampling from the joint posterior distribution of pedigrees and population parameters under a Fisher-Wright model with partial selfing. Theoretical Population Biology 2007, 72(3), 436-458.
• Prescott NJ, Fisher SA, Franke A, Hampe J, Onnie CM, Soars D, Bagnall R, Mirza MM, Sanderson J, Forbes A, Mansfield JC, Lewis CM, Schreiber S, Mathew CG. A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn's Disease and Is Independent of CARD15 and IBD5. Gastroenterology 2007, 132(5), 1665-1671.
• Mansfield JC, Parkes M, Hawthorne AB, Forbes A, Probert CSJ, Perowne RC, Cooper A, Zeldis JB, Manning DC, Hawkey CJ. A randomized, double-blind, placebo-controlled trial of lenalidomide in the treatment of moderately severe active Crohn's disease. Alimentary Pharmacology and Therapeutics 2007, 26(3), 421-430.
• Santos-Lopes SS, Pereira RW, Wilson IJ, Pena SDJ. A worldwide phylogeography for the human X chromosome. PLoS ONE 2007, 2(6), e557.
• Schoser BG, Muller-Hocker J, Horvath R, Gempel K, Pongratz D, Lochmuller H, Muller-Felber W. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathology and Applied Neurobiology 2007, 33(5), 544-559.
• Huang Y, Laval SH, Van Remoortere A, Baudier J, Benaud C, Anderson LVB, Straub V, Deelder A, Frants RR, Den Dunnen JT, Bushby K, Van Der Maarel SM. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB Journal 2007, 21(3), 732-742.
• Sergeant KA, Bourgeois CF, Dalgliesh C, Venables JP, Stevenin J, Elliott DJ. Alternative RNA splicing complexes containing the scaffold attachment factor SAFB2. Journal of Cell Science 2007, 120(2), 309-319.
• Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Analysis of spectrum and frequencies of mutations in McArdle disease. Journal of Neurology 2007, 254(6), 797-802.
• Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Analysis of spectrum and frequencies of mutations in McArdle disease: Identification of 13 novel mutations. Journal of Neurology 2007, 254(6), 797-802.
• Owen CJ, Kelly H, Eden JA, Merriman ME, Pearce SHS, Merriman TR. Analysis of the Fc receptor-like-3 (FCRL3) locus in caucasians with autoimmune disorders suggests a complex pattern of disease association. Journal of Clinical Endocrinology and Metabolism 2007, 92(3), 1106-1111.
• Karpman D, Blom A, Goodship T, Sullivan KE. Anguish over angiopathy: Hemolytic uremic syndrome. Clinical Immunology 2007, 122(2), 135-138.
• Polvikoski T, Griffiths T, Birchall D, Clarke G, Chinnery P. Argyrophilic grain disease as part of the fragile-X premutation syndrome. 2007, Submitted.
• Elson JL, Majamaa K, Howell N, Chinnery PF. Associating mitochondrial DNA variation with complex traits. American Journal of Human Genetics 2007. , 80(2), 378-382.
• Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung H-T, Marchini JL, Morris AP, Spencer CCA, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, Clair DSt, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CAB, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DPM, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JRB, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AVS, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SCL, Seal S, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJR, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Ferreira T, Pereira-Gale J, Hallgrimsdottir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SHS, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims A-M, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics 2007, 39(11), 1329-1337.
• Krause S, Gohringer T, Walter MC, Schoser BG, Reilich P, Linn J, Popperl GE, Frolich L, Hentschel F, Lochmuller H, Danek A. Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. Clinical Neuropathology 2007, 26(5), 232-240.
• Richards A, van den Maagdenberg A, Jen J, Kavanagh D, Bertram P, Spitzer D, Liszewski K, Barilla-LaBarca M, Terwindt G, Kasai Y, McLellan M, Grand M, Vanmolkot K, de Vries B, Wan J, Kane M, Mamsa H, Schafer R, Stam A, Haan J, de Jong P, Storimans C, van Schooneveld M, Oosterhuis J, Gschwendter A, Dichgans M, Kotschet K, Hodgkinson S, Hardy T, Delatycki M, Hajj-Ali R, Kothari P, Nelson S, Frants R, Baloh R, Ferrari M, Atkinson JP. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nature Genetics 2007, 39(9), 1068-1070.
• Burn J, Bishop DT, Mecklin JP, Macrae F, Moeslein G, Olschwang S, Bisgaard MLS, Ramesar R, Jass J, Lynch HT, Barker G, Elliott F, Mathers JCM. CAPP2: a randomised chemoprevention trial of aspirin and resistant starch in Lynch Syndrome. In: Journal of Medical Genetics. 2007, B M A House, Tavistock Sq, London WC1H 9JR United Kingdom: BMJ Group.
• Neganova I, Lako M. Cell cycle regulation in human embryonic stem cells. In: Anatomical Society of Great Britain and Ireland Summer 2007 Meeting. 2007, University of Durham, UK: Journal of Anatomy: Anatomical Society of Great Britain and Ireland.
• Cheng AJ, Ching Cheng N, Ford J, Smith J, Murray JE, Flemming C, Lastowska M, Jackson MS, Hackett CS, Weiss WA, Marshall GM, Kees UR, Norris MD, Haber M. Cell lines from MYCN transgenic murine tumours reflect the molecular and biological characteristics of human neuroblastoma. European Journal of Cancer 2007, 43(9), 1467-1475.
• Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, Mitrani-Rosenbaum S. Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. Cell Death & Differentiation 2007, 14(11), 1916-1924.
• Adewumi O, Aflatoonian B, Ahrlund-Richter L, Amit M, Andrews PW, Beighton G, Bello PA, Benvenisty N, Berry LS, Bevan S, Blum B, Brooking J, Chen KG, Choo ABH, Churchill GA, Corbel M, Damjanov I, Draper JS, Dvorak P, Emanuelsson K, Fleck RA, Ford A, Gertow K, Gertsenstein M, Gokhale PJ, Hamilton RS, Hampl A, Healy LE, Hovatta O, Hyllner J, Imreh MP, Itskovitz-Eldor J, Jackson J, Johnson JL, Jones M, Kee K, King BL, Knowles BB, Lako M, Lebrin F, Mallon BS, Manning D, Mayshar Y, McKay RDG, Michalska AE, Mikkola M, Mileikovsky M, Minger SL, Moore HD, Mummery CL, Nagy A, Nakatsuji N, O'Brien CM, Oh SKW, Olsson C, Otonkoski T, Park K-Y, Passier R, Patel H, Patel M, Pedersen R, Pera MF, Piekarczyk MS, Pera RAR, Reubinoff BE, Robins AJ, Rossant J, Rugg-Gunn P, Schulz TC, Semb H, Sherrer ES, Siemen H, Stacey GN, Stojkovic M, Suemori H, Szatkiewicz J, Turetsky T, Tuuri T, Van Den Brink S, Vintersten K, Vuoristo S, Ward D, Weaver TA, Young LA, Zhang W. Characterization of human embryonic stem cell lines by the International Stem Cell Initiative. Nature Biotechnology 2007, 25(7), 803-816.
• Barisic N, Jakic-Razumovic J, Harjacek M, Fanin M, Lochmuller H, Lehman I, Angelini C. Childhood dermatomyositis associated with intracranial tumor and liver cysts. European Journal of Paediatric Neurology 2007, 11(2), 76-80.
• Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Movement Disorders 2007, 22(14), 2104-2109.
• Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort Jr R, Griffiths P, Yu Wai Man P, de Coo RFM, Horvath R, Zeviani M, Smeets HJT, Torroni A, Chinnery PF. Clinical expression of Leber heriditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. American Journal of Human Genetics 2007, 81(2), 228-233.
• Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombes A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007, 130(1), 110-119.
• Fisher SA, Mirza MM, Onnie CM, Soars D, Lewis CM, Prescott NJ, Mathew CG, Sanderson J, Forbes A, Todhunter C, Donaldson P, Mansfield J. Combined Evidence From Three Large British Association Studies Rejects TUCAN/CARD8 as an IBD Susceptibility Gene. Gastroenterology 2007. , 132(5), 2078-2080.
• Atkinson JP, Goodship THJ. Complement factor H and the hemolytic uremic syndrome. Journal of Experimental Medicine 2007. , 204(6), 1245-1248.
• O'Sullivan J, Iyer S, Taylor N, Cheetham T. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age. Archives of Disease in Childhood 2007, 92(8), 690-692.
• Croiseau P, Genin E, Cordell HJ. Dealing with missing data in family-based association studies: A multiple imputation approach. Human Heredity 2007, 63(3-4), 229-238.
• Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship THJ, Skerka C. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genetics 2007, 3(3), 0387-0392.
• Pyle A, Taylor RW, Durham SE, Deschauer M, Schaefer AM, Samuels DC, Chinnery PF. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation. Journal of Medical Genetics 2007, 44(1), 69-74.
• Kist R, Greally E, Peters H. Derivation of a mouse model for conditional inactivation of Pax9. Genesis 2007, 45(7), 460-464.
• Hall VJ, Compton D, Stojkovic P, Nesbitt M, Herbert M, Murdoch A, Stojkovic M. Developmental competence of human in vitro aged oocytes as host cells for nuclear transfer. Human Reproduction 2007, 22(1), 52-62.
• Ahmad S, Stewart R, Yung S, Kolli S, Armstrong L, Stojkovic M, Figueiredo F, Lako M. Differentiation of human embryonic stem cells into corneal epithelial-like cells by in vitro replication of the corneal epithelial stem cell niche. Stem Cells 2007, 25(5), 1145-1155.
• Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng Y-Z, Li W-P, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley Jr W. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Journal of Clinical Investigation 2007, 117(2), 457-463.
• Burn J. Discovery of structure of DNA: the best is yet to come. British Medical Journal 2007,334 Suppl 1 s9.
• Burn J. Discovery of structure of DNA: the best is yet to come. British Medical Journal 2007, 334, s9-.
• Phillips HM, Rhee HJ, Murdoch JN, Hildreth V, Peat JD, Anderson RH, Copp AJ, Chaudhry B, Henderson DJ. Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization. Circulation Research 2007, 101(2), 137-145.
• Razvi S, Pearce SHS. Do antithyroid drugs influence outcome after radioiodine therapy for hyperthyroidism?. Nature Clinical Practice Endocrinology and Metabolism 2007. , 3(9), 628-629.
• Vavoulis DV, Straub VA, Kemenes I, Kemenes G, Feng J, Benjamin PR. Dynamic control of a central pattern generator circuit: a computational model of the snail feeding network. European Journal of Neuroscience 2007, 25(9), 2805-2818.
• Sibal L, Aldibbiat A, Agarwal SC, Weaver JU, Razvi S, Oates CP, Mitchell G, Shaw JA, Home PD. Endothelial dysfunction and circulating endothelial progenitor cells in young people with type 1 diabetes. Journal of the American College of Cardiology 2007, 49(9), 241A-241A.
• Sibal L, Aldibbiat A, Agarwal SC, Weaver JU, Razvi S, Oates CP, Mitchell G, Shaw JAM, Home PD. Endothelial dysfunction, carotid intima media thickness and circulating endothelial progenitor cells in young people with Type 1 diabetes. Diabetic Medicine 2007, 24, 12-13.
• Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF. Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation. Journal of Medical Genetics 2007, 44(12), 797-799.
• Jayaprakasan K, Herbert M, Moody E, Stewart JA, Murdoch AP. Estimating the risks of ovarian hyperstimulation syndrome (OHSS): Implications for egg donation for research. Human Fertility 2007, 10(3), 183-187.
• Ruiz-Perez VL, Blair HJ, Rodrigues-Andres ME, Blanco MJ, Wilson A, Liu Y-N, Miles C, Peters H, Goodship JA. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development 2007, 134(16), 2903-2912.
• Biernacka JM, Cordell HJ. Exploring causality via identification of SNPs or haplotypes responsible for a linkage signal. Genetic Epidemiology 2007, 31(7), 727-740.
• Carr G, Sayer JA, Simmons NL. Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cellular Physiology and Biochemistry 2007, 20(5), 507-516.
• Werner A, Schmutzler G, Carlile M, Miles CG, Peters H. Expression profiling of antisense transcripts on DNA arrays. Physiological Genomics 2007, 28(3), 294-300.
• Ten Dijke P, Arthur HM. Extracellular control of TGFβ signalling in vascular development and disease. Nature Reviews Molecular Cell Biology 2007. , 8(11), 857-869.
• Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SCL, De Smith A, Blakemore AIF, Froguel P, Owen CJ, Pearce SHS, Teixeira L, Guillevin L, Graham DSC, Pusey CD, Cook HT, Vyse TJ, Aitman TJ. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nature Genetics 2007, 39(6), 721-723.
• Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, Bushby K. From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis. FASEB Journal 2007, 21(8), 1768-1776.
• Rohkamm B, Reilly MM, Lochmuller H, Schlotter-Weigel B, Barisic N, Schols L, Nicholson G, Pareyson D, Laura M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. Journal of the Neurological Sciences 2007, 263(1-2), 100-106.
• Wilkes S, Hall N, Crosland A, Murdoch A, Rubin G. General practitioners' perceptions and attitudes to infertility management in primary care: Focus group study. Journal of Evaluation in Clinical Practice 2007, 13(3), 358-363.
• Allinson KR, Carvalho RLC, Van Den Brink S, Mummery CL, Arthur HM. Generation of a floxed allele of the mouse endoglin gene. Genesis: The Journal of Genetics and Development 2007, 45(6), 391-395.
• Pennell CE, Jacobsson B, Williams SM, Buus RM, Muglia LJ, Dolan SM, Morken N-H, Ozcelik H, Lye SJ, Relton C. Genetic epidemiologic studies of preterm birth: guidelines for research. American Journal of Obstetrics and Gynecology 2007. , 196(2), 107-118.
• Lee K, Polvikoski T, Birchall D, Santibanez-Koref M, Mendelow AD, Keavney BD. Genome-wide cell-specific gene expression analysis identifies the involvement of the adipocytokine signalling pathway in atherosclerotic plaque rupture. Circulation 2007, 116(16), 363-364.
• Sutherland A, Davies JM, Owen CJ, Vaikkakara S, Walker C, Cheetham TD, James RA, Perros P, Donaldson PT, Cordell HJ, Quinton R, Pearce SHS. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. Journal of Clinical Endocrinology & Metabolism 2007, 92(8), 3338-3341.
• Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmuller H. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 2007, 69(7), 655-9.
• Vasen HFA, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin J-P, Moller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics 2007. , 44(6), 353-362.
• Spraggon L, Dudnakova T, Slight J, Lustig-Yariv O, Cotterell J, Hastie N, Miles C. hnRNP-U directly interacts with WT1 and modulates WT1 transcriptional activation. Oncogene 2007, 26(10), 1484-1491.
• McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AAM, Foster SM, Tuppen HAL, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 2007, 69(9), 911-916.
• Chinnery P. How common are mitochondrial diseases and how do they present in the neurology clinic?. Journal of Neurology 2007, 254, 4-4.
• Łastowska MA, Viprey V, Santibanez-Koref MF, Wappler I, Peters HH, Cullinane C, Roberts P, Hall AG, Tweddle DA, Pearson ADJ, Lewis I, Burchill S, Jackson MS. Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data. Oncogene 2007, 26(53), 7432-7444.
• Tremelling M, Cummings F, Fisher SA, Mansfield J, Gwilliam R, Keniry A, Nimmo ER, Drummond H, Onnie CM, Prescott NJ, Sanderson J, Bredin F, Berzuini C, Forbes A, Lewis CM, Cardon L, Deloukas P, Jewell D, Mathew CG, Parkes M, Satsangi J. IL23R Variation Determines Susceptibility But Not Disease Phenotype in Inflammatory Bowel Disease. Gastroenterology 2007, 132(5), 1657-1664.
• Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship THJ, Atkinson JP. Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Molecular Immunology 2007, 44(1-3), 111-122.
• Pearce AV, Fisher S, Prescott N, Onnie C, Pattni R, Green P, Forbes A, Mansfield J, Sanderson J, Schreiber S, Lewis CM, Mathew CG. Investigation of assocaiation of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population. International Journal of Colorectal Disease 2007,22 4 419-424.
• Taylor RW, Chinnery PF, Turnbull DM. Investigation of metabolic myopathies. Handbook of Clinical Neurology 2007, 86, 193-204.
• Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AOH, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T. Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human Mutation 2007. , 28(7), 739-740.
• Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nature Genetics 2007. , 39(8), 1018-1024.
• Goodship T. Microangiopathies. Medicine 2007. , 35(9), 510-511.
• James RJA, James A, Drewett RF, Cheetham TD. Milk intake and feeding behavior in the first week of life and its relationship to cord blood ghrelin, leptin, and insulin concentrations. Pediatric Research 2007, 62(6), 695-699.
• Chinnery PF, Mowbray C, Elliott H, Elson JL, Nixon H, Hartley J, Shaw PJ. Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis. Neurogenetics 2007. , 8(1), 65-67.
• Chinnery PF, Mowbray C, Patel SK, Elson JL, Sampson M, Hitman GA, McCarthy MI, Hattersley AT, Walker M. Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls. Journal of Medical Genetics 2007, 44(6), e80.
• De Alwis NM, Mowbray C, Pyle A, Henderson E, Leathart J, Aithal GP, Chinnery PF, Day CP. Mitochondrial DNA haplogroups associated with histological severity in non-alcoholic fatty liver disease (NAFLD). Journal of Hepatology 2007, 46, S265-S266.
• Passos JF, Saretzki G, Ahmed S, Nelson G, Richter T, Peters H, Wappler I, Birket MJ, Harold G, Schaeuble K, Birch-Machin MA, Kirkwood TBL, von Zglinicki T. Mitochondrial dysfunction accounts for the stochastic heterogeneity in telomere-dependent senescence. PLoS Biology 2007, 5(5), 1138-1151.
• Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. American Journal of Human Genetics 2007, 80(3), 478-484.
• Liszewski MK, Leung MK, Schraml B, Goodship THJ, Atkinson JP. Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome. Molecular Immunology 2007, 44(7), 1570-1579.
• Straub VA, Grant J, O'Shea M, Benjamin PR. Modulation of serotonergic neurotransmission by nitric oxide. Journal of Neurophysiology 2007, 97(2), 1088-99.
• Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Muller CR, Brown S, Treves S, Muntoni F. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 2007, 130(8), 2024-2036.
• Sookhoo S, McKinnon I, Bushby K, Chinnery PF, Birchall D. MRI for the demonstration of subclinical muscle involvement in muscular dystrophy. Clinical Radiology 2007, 62(2), 160-165.
• Jacobs L, Gerards M, Chinnery P, Dumoulin J, de Coo I, Geraedts J, Smeets H. mtDNA point mutations are present at various levels of heteroplasmy in human oocytes. Molecular Human Reproduction 2007, 13(3), 9-14.
• Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome. Journal of Medical Genetics 2007, 44(10), 657-663.
• Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Archives of Neurology 2007, 64(4), 553-557.
• Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism. Archives of Neurology 2007,64 4 553-557.
• Wolf MTF, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney International 2007, 72(12), 1520-1526.
• Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, Rahman N. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nature Genetics 2007, 39(8), 963-965.
• Chinnery PF. Mutations in SUCLA2: A tandem ride back to the Krebs cycle. Brain 2007. , 130(3), 606-609.
• Durham SE, Samuels DC, Cree LM, Chinnery PF. Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A→G. American Journal of Human Genetics 2007, 81(1), 189-195.
• Stewart J, Harrower T, Taylor RW, Hudson G, Houlden H, Warner G, De Silva R, O'Donovan D, Findlay L, Chinnery PF. Nuclear gene mutations impacting mitochondrial genome maintenance. In: Journal of Medical Genetics: British Human Genetics Conference. 2007, York, UK: BMJ Group.
• Gurreebun F, Hartley GH, Brown AL, Ward MC, Goodship THJ. Nutritional Screening in Patients on Hemodialysis: Is Subjective Global Assessment an Appropriate Tool?. Journal of Renal Nutrition 2007, 17(2), 114-117.
• Yu Wai Man P, Crompton DE, Graham JY, Black FM, Dayan MR. Optic perineuritis as a rare initial presentation of sarcoidosis. Clinical & Experimental Ophthalmology 2007, 35(7), 682-684.
• Horvath R, Kley RA, Lochmuller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007, 68(1), 56-8.
• Hubbers CU, Clemen CS, Kesper K, Boddrich A, Hofmann A, Kamarainen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmuller H, Wanker EE, Schoser BG, Noegel AA, Schroder R. Pathological consequences of VCP mutations on human striated muscle. Brain 2007, 130(2), 381-393.
• Steel DHW. Phacovitrectomy: Expanding indications. Journal of Cataract and Refractive Surgery 2007, 33(6), 933-936.
• Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Äärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007, 130(6), 1497-1506.
• Coverleyn A, Dequeker E, Morris M, Lawford-Davies J, Sermon K, Antiñolo G, Schmutzler A, Vanecek J, Palau F, Zika E, Ibarreta D. Pre-Implantation Genetic Diagnosis in Europe. Seville, Spain: Joint Research Centre of the European Commission, 2007. 22764.
• Hautot D, Pankhurst QA, Morris CM, Curtis A, Burn J, Dobson J. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. Biochimica et Biophysica Acta - Molecular Basis of Disease 2007, 1772(1), 21-25.
• Jaros E, Mahad D, Hudson G, Birchall D, Sawcer S, Griffiths P, Sunter J, Compston D, Perry R, Chinnery P. Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy. Neurology 2007, 69(2), 214-216.
• Choudhary M, Zhang X, Stojkovic P, Hyslop L, Anyfantis G, Herbert M, Murdoch AP, Stojkovic M, Lako M. Putative role of hyaluronan and its related genes, HAS2 and RHAMM, in human early preimplantation embryogenesis and embryonic stem cell characterization. Stem Cells 2007, 25(12), 3045-3057.
• Wheeler E, Cordell HJ. Quantitative trait association in parent offspring trios: Extension of case/pseudocontrol method and comparison of prospective and retrospective approaches. Genetic Epidemiology 2007, 31(8), 813-833.
• Sewpaul A, Sayer JA, Mohamed MAS, Ahmed A, Shaw M, Prabhu VR, Wood K, Jones NA, Talbot D, Kanagasundaram NS. Rapid onset intratubular calcification following renal transplantation requiring urgent parathyroidectomy. Clinical Nephrology 2007, 68(1), 47-51.
• Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130(10), 2725-2735.
• Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF, Pitteloud N. Reversal of idiopathic hypogonadotropic hypogonadism. New England Journal of Medicine 2007, 357(9), 863-873.
• Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause K-H, Klutzny U, Bulst S, Frey JR, Lochmüller H. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain: A Journal of Neurology 2007, 130(6), 1485-1496.
• Kavanagh D, Richards A, Fremeaux-Bacchi V, Noris M, Goodship T, Remuzzi G, Atkinson JP. Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome. Clinical Journal of the American Society of Nephrology 2007, 2(3), 591-596.
• Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Cardon L, Mathew CG. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nature Genetics 2007, 39(7), 830-832.
• Hahn DH, Schibli SS, Schaller AS, Kern IK, Haenggeli CHA, Bottani AB, Schaeppi MS, Giroud-Rivier AGR, Belli DB, Chinnery PFC, Gallati SG, Nuoffer JMN. Severe clinical course in a patient with homozygous mtDNA polymerase gamma mutation (A467T) and heterozygous thymidine phosphorylase mutation (A465T). A possible digenic effect?. Journal of Inherited Metabolic Disease 2007, 30(Supplement 1), 79-79.
• Meeson AP, Shi X, Alexander MS, Williams RS, Allen RE, Jiang N, Adham IM, Goetsch SC, Hammer RE, Garry DJ. Sox15 and Fhl3 transcriptionally coactivate Foxk1 and regulate myogenic progenitor cells. EMBO Journal 2007, 26(7), 1902-1912.
• McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Earl A, Zimmerman MD, Shang HF, Miyajima MD, Chinnery PF. T2 FSE and T2*MRI distinguish between four types of neurodegeneration with brain iron accumulation. In: Association of British Neurologists Scientific Meeting. 2007, Queen Elizabeth II Conference Centre, Westminster, London: Journal of Neurology, Neurosurgery and Psychiatry: BMJ Group.
• Goris A, Williams-Gray CH, Clark GR, Foltynie T, Lewis S, Brown J, Spillantini M, Compston A, Burn DJ, Chinnery PF, Barker RA, Sawcer SJ. Tau and -synuclein in susceptibility to, and dementia in, Parkinson's disease. Annals of Neurology 2007, 62(2), 145-153.
• Goris A, Williams-Gray CH, Clark GR, Foltynie T, Lewis SJG, Brown J, Ban M, Spillantini MG, Compston A, Burn DJ, Chinnery PF, Barker RA, Sawcer SJ. Tau and α-synuclein in susceptibility to, and dementia in, Parkinson's disease. Annals of Neurology 2007, 62(2), 145-153.
• Collerton J, Martin-Ruiz C, Kenny A, Barrass K, Von Zglinicki T, Kirkwood T, Keavney B, Bond J, Eccles M, Jagger C, James O, Robinson L. Telomere length is associated with left ventricular function in the oldest old: The Newcastle 85+ study. European Heart Journal 2007, 28(2), 172-176.
• Craig K, Ferrari G, Tiangyou W, Hudson G, Gellera C, Zeviani M, Chinnery PF. The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. Brain 2007. , 130(4), E69.
• Razvi S, Ingoe L, Keeka G, Oates C, McMillan C, Weaver JU. The beneficial effect of L-thyroxine on cardiovascular risk factors, endothelial function, and quality of life in subclinical hypothyroidism: Randomized, crossover trial. Journal of Clinical Endocrinology and Metabolism 2007, 92(5), 1715-1723.
• Maggi M, Schulman C, Quinton R, Langham S, Uhl-hochgraeber K. The burden of testosterone deficiency syndrome in adult men: Economic and quality-of-Life impact. Journal of Sexual Medicine 2007, 4(4 I), 1056-1069.
• Baker M, Rahman T, Hall D, Avery PJ, Mayosi BM, Connell JMC, Farrall M, Watkins H, Keavney B. The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: A possible explanation for heterogeneity in genetic association studies of AGT and hypertension. International Journal of Epidemiology 2007, 36(6), 1356-1362.
• Kavanagh D, Burgess R, Spitzer D, Richards A, Diaz-Torres ML, Goodship JA, Hourcade DE, Atkinson JP, Goodship THJ. The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation. Molecular Immunology 2007, 44(12), 3162-3167.
• Saunders RE, Abarrategui-Garrido C, Fremeaux-Bacchi V, Goicoechea De Jorge E, Goodship THJ, Lopez Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodriguez De Cordoba S, Sanchez-Corral P, Skerka C, Zipfel PF, Perkins SJ. The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: Update and integration of membrane cofactor protein and factor I mutations with structural models. Human Mutation 2007, 28(3), 222-234.
• Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Palmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmuller H, Horvath R. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain: A Journal of Neurology 2007, 130(8), 2037-2044.
• Adamson K, Cheetham T, Kendall-Taylor P, Seckl J, Pearce S. The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus. International Journal of Immunogenetics 2007, 34(1), 17-21.
• Skrisovska L, Bourgeois CF, Stefl R, Grellscheid S-N, Kister L, Wenter P, Elliott DJ, Stevenin J, Allain FH-T. The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction. EMBO Reports 2007, 8(4), 372-379.
• Janiesch PC, Kim J, Mouysset J, Barikbin R, Lochmuller H, Cassata G, Krause S, Hoppe T. The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nature Cell Biology 2007, 9(4), 379-390.
• Cantagrel V, Lossi A-M, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Truncation of NHEJ1 in a patient with polymicrogyria. Human Mutation 2007, 28(4), 356-364.
• Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin M-R, McCarthy MI, Smith GD, Hattersley AT, Frayling TM. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: A study of 24,053 individuals. American Journal of Human Genetics 2007, 80(6), 1150-1161.
• Kavanagh D, Goodship TH. Update on evaluating complement in hemolytic uremic syndrome. Current Opinion in Nephrology and Hypertension 2007. , 16(6), 565-571.
• Lochmuller H, Wehnert M. What message does the nuclear envelope hold?. Neurology 2007. US: Lippincott Williams & Wilkins, 68(22), 1879-1880.
• Chinnery PF, Hudson G, Stewart J, Craig K, Taylor RW, Turnbull DM, Ramesh V, McFarland R, Burn DJ, Hanna MG, Horvath R, Lochmueller H, Zeviani M. When and how should neurologists test for mutations in POLG?. In: Journal of Neurology, Neurosurgery and Psychiatry: Spring Scientific Meeting of the Association of British Neurologists. 2007, Cambridge, UK: BMJ Group.
• Jokiranta TS, Zipfel PF, Fremeaux-Bacchi V, Taylor CM, Goodship TJH, Noris M. Where next with atypical hemolytic uremic syndrome?. Molecular Immunology 2007. , 44(16), 3889-3900.
• Ijpenberg A, Pérez-Pomares JM, Guadix JA, Carmonab R, Portillo-Sánchez V, Macías D, Hohenstein P, Miles C, Hastie ND, Muñoz-Chápuli R. Wt1 and retinoic acid signaling are essential for stellate cell development and liver morphogenesis. Developmental Biology 2007, 312(1), 157-70.
• Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF. X-inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. Molecular Vision 2007, 13, 2339-2343.