Publications
Showing 1 to 25 of 72 Publications found in the The Institute of Human Genetics, for the year 1998.
- Pearce SHS; Cheetham TD; Imrie H; Vaidya BJ; Barnes ND; Bilous RW; Carr D; Meeran K; Shaw NJ; Smith CS; Toft AD; Williams G; Kendall-Taylor P. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. American Journal of Human Genetics 1998, 63(6), 1675-1684.
- R. Bashir, S. Britton, T. Strachan, S. Keers, E. Vafiadaki, M. Lako, I. Richard, S. Marchand, N. Bourg, Z. Argov, M. Sadeh, I. Mahjneh, G. Marconi, M. R. Passos-Bueno, E. D. Moreira, M. Zatz, J. S. Beckmann and K. Bushby. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics 1998, 20, 37-42.
- Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics 1998, 20(1), 37-42.
- A. J. Ross, V. Ruiz-Perez, Y. M. Wang, D. M. Hagan, S. Scherer, S. A. Lynch, S. Lindsay, E. Custard, E. Belloni, D. I. Wilson, R. Wadey, F. Goodman, K. H. Orstavik, T. Monclair, S. Robson, W. Reardon, J. Burn, P. Scambler and T. Strachan. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nature Genetics 1998, 20, 358-361.
- Strachan T, Ross AJ, Ruiz-Perez V, Wang YM et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nature Genetics 1998, 20, 358-361.
- Ross AJ, RuizPerez V, Wang YM, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. NATURE GENETICS, 1998, Vol.20, No.4, pp.358-361 1998.
- M. A. Salih;M. Al Rayess;S. Cutshall;J. A. Urtizberea;M. H. Al-Turaiki;C. O. Ozo;V. Straub;M. Akbar;M. Abid;A. Andeejani;K. P. Campbell. A novel form of familial congenital muscular dystrophy in two adolescents. Neuropediatrics 1998, 29(6), 289-93.
- Lako M, Lindsay S, Bullen P, Wilson DI, Robson SC, Strachan T. A novel mammalian wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain. Human Molecular Genetics 1998, 7(5), 813-822.
- R.W. Taylor;P.F. Chinnery;M.J.D. Bates;M.J. Jackson;M.A. Johnson;R.M. Andrews;D.M. Turnbull. A novel mitochondrial DNA point mutation in the tRNAIle gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochemical and Biophysical Research Communications 1998, 243, 47-51.
- Hasenclever D; Diehl V; Armitage JO; Assouline D; Bjorkholm M; Brusamolino E; Canellos GP; Carde P; Crowther D; Cunningham D; Eghbali H; Ferm C; Fisher RI; Glick JH; Glimelius B; Gobbi PG; Holte H; Horning SJ; Lister TA; Longo DL; Mandelli F; Polliack A; Proctor SJ; Specht L; Sweetenham JW; VaughanHudson G. A prognostic score for advanced Hodgkin's disease. New England Journal of Medicine 1998, 339(21), 1506-1514.
- Quinton R, Conway GS, Vanderpump MPJ, Bouloux P-MG, Jacobs HS. Adult-onset idiopathic hypogonadotrophic hypogonadism may be over-diagnosed. British Medical Journal 1998, 317, 600-601.
- Joosten, P, Hol, F.A, van Beersum, S.E, Peters, H, Hamel, B.C, Afink, G.B, van Zoelen, E.J. and Mariman, E.C. Altered regulation of platelet-derived growth factor receptor-a gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins. Proc.Natl.Acad.Sci 1998, 95, 14459-14463.
- L. Groigno and M. Whitaker. An anaphase calcium signal controls chromosome disjunction in early sea urchin embryos. Cell 1998, 92, 193-204.
- C. Young, S. Lindsay, R. Vater and C. R. Slater. An improved method for the simultaneous demonstration of mRNA and esterase activity at the human neuromuscular junction. Histochemical Journal 1998, 30, 7-11.
- J. H. Park;V. A. Straub;M. O'Shea. Anterograde signaling by nitric oxide: characterization and in vitro reconstitution of an identified nitrergic synapse. J Neurosci 1998, 18(14), 5463-76.
- F. Duclos;O. Broux;N. Bourg;V. Straub;G. L. Feldman;Y. Sunada;L. E. Lim;F. Piccolo;S. Cutshall;F. Gary;F. Quetier;J. C. Kaplan;C. E. Jackson;J. S. Beckmann;K. P. Campbell. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord 1998, 8(1), 30-8.
- Whitaker, M. Calcium imaging. Methods in Cell Biology 1998, 74, 443-468.
- G. H. Guibinga;H. Lochmuller;B. Massie;J. Nalbantoglu;G. Karpati;B. J. Petrof. Combinatorial blockade of calcineurin and CD28 signaling facilitates primary and secondary therapeutic gene transfer by adenovirus vectors in dystrophic (mdx) mouse muscles. J Virol 1998, 72(6), 4601-9.
- Miles C, Elgar G, Coles E, Kleinjan DJ, van Heyningen V, Hastie N. Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13. Proc Natl Acad Sci U S A 95:13068-72 1998.
- De Zoysa PA, Helliwell RJA, Duke VM, Quinton R, P-MG Bouloux. Contrasting expression of KAL in cell free systems: 5'UTR and coding region structural effects on translation. Protein Expression & Purification 1998, 13, 235-242.
- Griffiths I, Klugmann M, Anderson T, Thomson C, Vouyiouklis D, Nave KA. Current concepts of PLP and its role in the nervous system. Microsc Res Tech 1998, 41(5), 344-358.
- Follows,G.A, Mathew,J, Lucas,S, Black,M.J.M, Goodship,T.H.J. Cutaneous botryomycosis in a patient with lupus nephritis. Nephrology Dialysis Transplantation 1998, 13, 3200-3201.
- Taylor R; Taylor G; Morris C; Edwardson J; Turnbull D. Diagnosis of mitochondrial disease: Assessment of mitochondrial DNA heteroplasmy in blood. Biochemical and Biophysical Research Communications 1998, 251(3), 883-887.
- A. J. Leonard, J. W. W. Killen, J. C. Mansfield, G. J. Gibson, M. Hudson and N. A. G. Jones. Difficulties in diagnosis and treatment of spinal tuberculosis. Hospital Medicine 1998, 59, 656-657.
- Marshman, E.; Newell, D.R.; Calvert, A.H.; Dickinson, A.; Patel, H.; Campbell, F.; Curtin, N.J. Dipyridamole potentiates antipurine antifolate activity in the presence of hypoxanthine in tumor cells but not in normal tissues in vitro. Clinical Cancer Research 1998, 4(11), 2895-2902.
