Newcastle University

Publications

Showing 1 to 25 of 210 Publications found in the The Institute of Human Genetics, for the year 2004.

• Armstrong, L, Lako, M, Van Herpe, I. Saretzki, G, Hole, N. Reduction of telomerase activity during differentiation of embryonal stem cells is mediated by transcriptional repression of murine telomerase reverse transcriptase (mTert). Mechanisms of Development 2004, 121(12), 1509-22.
• Soutter J, Hamilton N, Russell P, Russell C, Bushby K, Sloper P, Bartlett K. The Golden Freeway: a preliminary evaluation of a pilot study advancing information technology as a social intervention for boys with Duchenne muscular dystrophy and their families. Health Soc Care Community 2004, 12(1), 25-33.
• Jungbluth H, Beggs A, Bonnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop 9-11 November 2002, Naarden, The Netherlands. Neuromuscular Disorders 2004, 14, 754-766.
• H. Jungbluth;A. Beggs;C. Bonnemann;K. Bushby;C. Ceuterick-de Groote;B. Estournet-Mathiaud;N. Goemans;P. Guicheney;A. Lescure;J. Lunardi;F. Muntoni;R. Quinlivan;C. Sewry;V. Straub;S. Treves;A. Ferreiro. 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands. Neuromuscul Disord 2004, 14(11), 754-66.
• Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord 2004, 14(1), 56-69.
• Kerwin JM; Scott MK; Sharpe J; Puelles L; Robson SC; Martínez de la Torre M; Ferran JL; Feng G; Baldock R; Strachan T; Davidson D; Lindsay SJ. 3 dimensional modelling of early human brain development using optical projection tomography. BMC Neuroscience 2004, 5, 27.
• Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum. Genet 2004, 115, 139-148.
• Brinkmann D, Ryan A, Ayhan A, McCluggage W.G, Feakins R, Santibanez Koref M.F, Mein C.A, Gayther S.A. and Jacobs I.J. A Molecular Genetic and Statistical Approach for the Diagnosis of Dual-Site Cancers. Journal of the National Cancer Institute 2004, 96(19), 1441-1146.
• Silveira L; Tanriverdi F; MacColl G; Ball SG; Bouloux P-MG; de Marco LA; Quinton R. A novel nonsense mutation of the KAL1 gene in a family with Kallmann. 12th International Congress of Endocrinology 2004. Lisbon, 25.
• K. Maniura-Weber;R. W. Taylor;M. A. Johnson;Z. Chrzanowska-Lightowlers;A. A. Morris;C. P. Charlton;D. M. Turnbull;L. A. Bindoff. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. Eur J Hum Genet 2004, 12(6), 509-12.
• Maniura-Weber, K, Taylor, R.W, Johnson, M.A, Chrzanowska-Lightowlers, Z.M, Morris, A.A, Charlton, C.P, Turnbull, D.M. and Bindoff, L.A. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. Eur. J. Hum. Genet 2004, 12(6), 509-512.
• McFarland, R, Taylor, R.W, Chinnery, P.F, Howell, N. and Turnbull, D.M. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromusc. Disord 2004, 14, 162-166.
• R. McFarland;R. W. Taylor;P. F. Chinnery;N. Howell;D. M. Turnbull. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 2004, 14(2), 162-6.
• R. McFarland;R. W. Taylor;P. F. Chinnery;N. Howell;D. M. Turnbull. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 2004, 14(2), 162-6.
• Eley L, Turnpenny L, Yates LM, Craighead AS, Morgan D, Whistler C, Goodship JA, Strachan T. A perspective on inversin. 2004;28(2):119-24. Cell Biol Int 2004, 28(2), 119-24.
• Karim, SA, Johnson, KJ, Griffiths, IR and Vouyiouklis, DA. A Physical Map of the Genomic Region on Mouse Chromosome 3, Containing the hindshaker (hsh) mutation. GENOMICS 2004, 83(2), 225-230.
• Rovio AT, Abel J, Ahola AL, Andres AM, Bertranpetit J, Blancher A, Bontrop RE, Chemnick LG, Cooke HJ, Cummins JM, Davis HA, Elliott DJ, Fritsche E, Hargreave TB, Hoffman SM, Jequier AM, Kao SH, Kim HS, Marchington DR, Mehmet D, Otting N, Poulton J, Ryder OA, Schuppe HC, Takenaka O, Wei YH, Wichmann L, Jacobs HT. A prevalent POLG CAG microsatellite length allele in humans and African great apes. Mamm Genome 2004, 15((6)), 492-502.
• Armstrong L, Lako M, van Herpe I, Evans J, Saretzki G & Hole N. A role for nucleoprotein Zap3 in the reduction of telomerase activity during embryonic stem cell differentiation. Mechanisms of Development 2004, 121(12), 1509-1522.
• J. P. Venables. Aberrant and alternative splicing in cancer. Cancer Res 2004, 64(21), 7647-54.
• Lodi R; Rajagopalan B; Blamire AM; Crilley JG; Styles P; Chinnery PF. Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy. Biochimica et Biophysica Acta: Bioenergetics 2004, 1657(2-3), 146-150.
• Brown K, Rodgers J, Johnstone H, Adams W, Clarke M, Gibson M, Cheetham T. Abnormal cognitive function in treated congenital hypopituitarism. Archives of disease in childhood 2004, 89, 827-830.
• Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F. Abnormalities in a-Dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. American Journal of Pathology 2004, 164, 727-737.
• Kadis S, Wright P, Neely D, Quinton R. Adult-onset isolated hypogonadotrophic hypogonadism secondary to increased hypothalamic-pituitary feedback-sensitivity to Estradiol. 12th International Congress of Endocrinology 2004. Lisbon, 229.
• N. Howell;J. L. Elson;D. M. Turnbull;C. Herrnstadt. African Haplogroup L mtDNA Sequences Show Violations of Clock-Like Evolution. Mol Biol Evol 2004.
• Amthor A, Egelhof T, McKinnell I, Weber J, Sinn S, Schrenk HH, Voit T, Straub V. Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI. Neuromuscular Disorders 2004, 14(12), 791-796.

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