Search Results - "Burley, M W"

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13 by Povey, S, Burley, M W, Attwood, J, Benham, F, Hunt, D, Jeremiah, S J, Franklin, D, Gillett, G, Malas, S, Robson, E B

“…32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large…”
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The -1021C→T DBH gene variant is not associated with epilepsy or antiepileptic drug response by DEPONDT, C, COCK, H. R, HEALY, D. G, BURLEY, M. W, WEINSHENKER, D, WOOD, N. W, GOLDSTEIN, D. B, SISODIYA, S. M

“…Dopamine beta-hydroxylase (DBH) catalyzes the conversion of dopamine to norepinephrine (NE). Animal studies show that genes in the NE pathway are candidates…”
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Non-penetrance in tuberous sclerosis by Osborne, JP, Jones, AC, Burley, MW, Jeganathan, D, Young, J, O'Callaghan, FJ, Sampson, JR, Povey, S

“…As a result of extreme clinical variability in tuberous sclerosis, with one well-documented example of non-penetrance, phenotypically normal siblings or…”
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Dieulafoy lesion presenting as severe anaemia in a soldier by Burley, Robert M W, Gavrielides, I

“…An unusual presentation of severe anaemia in a young soldier is presented. A brief review of the nature of Dieulafoy lesions and treatment and difficulties of…”
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A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients by YOUNG, J. M., BURLEY, M. W., JEREMIAH, S. J., JEGANATHAN, D., EKONG, R., OSBORNE, J. P., POVEY, S.

“…The entire coding region of the TSC1 gene has been screened for mutations in 79 unrelated patients with tuberous sclerosis. Causative mutations have been found…”
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Genome-wide linkage scan of bipolar disorder in a Colombian population isolate replicates Loci on chromosomes 7p21-22, 1p31, 16p12 and 21q21-22 and identifies a novel locus on chromosome 12q by Kremeyer, B, García, J, Müller, H, Burley, M W, Herzberg, I, Parra, M V, Duque, C, Vega, J, Montoya, P, López, M C, Bedoya, G, Reus, V, Palacio, C, López, C, Ospina-Duque, J, Freimer, N B, Ruiz-Linares, A

“…Bipolar disorder (BP) is a severe psychiatric illness, characterised by alternating episodes of depression and mania, which ranks among the top ten causes of…”
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Mapping ESTs to the TSC1 candidate interval by use of the ‘Science 96’ transcript map by WOLFE, J., JEREMIAH, S., YOUNG, J., BURLEY, M. W., STEWART, H., McCULLEY, M., GRANT, C., NAZ, K., POVEY, S.

“…The transcription map of the human genome published by Schuler et al. (1996) is a valuable resource in which approximately one quarter of all human genes have…”
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HLA class III haplotypes in multicase rheumatoid arthritis families by Fielder, A H, Ollier, W, Lord, D K, Burley, M W, Silman, A, Awad, J, Festenstein, H, Batchelor, J R

“…The class III complement proteins (C2, BF, C4A, and C4B) were studied in 57 multicase rheumatoid arthritis (RA) families. When the gene frequencies for RA…”
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Mapping studies on human mitochondrial glutamate oxaloacetate transaminase by Jeremiah, S J, Povey, S, Burley, M W, Kielty, C, Lee, M, Spowart, G, Corney, G, Cook, P J

“…Data from six primary hybrids and twenty-two subclones have confirmed the assignment of the mitochondrial form of glutamate oxaloacetate transaminase to…”
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A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome by Kremeyer, Barbara, Lopera, Francisco, Cox, James J., Momin, Aliakmal, Rugiero, Francois, Marsh, Steve, Woods, C. Geoffrey, Jones, Nicholas G., Paterson, Kathryn J., Fricker, Florence R., Villegas, Andrés, Acosta, Natalia, Pineda-Trujillo, Nicolás G., Ramírez, Juan Diego, Zea, Julián, Burley, Mari-Wyn, Bedoya, Gabriel, Bennett, David L.H., Wood, John N., Ruiz-Linares, Andrés

“…Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states. We describe an…”
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C4 complement allotypes in juvenile dermatomyositis by Robb, S A, Fielder, A H, Saunders, C E, Davey, N J, Burley, M W, Lord, D H, Batchelor, J R, Dubowitz, V

“…Twenty probands with juvenile dermatomyositis and their relatives were studied to determine the inherited segregation patterns of class I, II, and III HLA…”
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Genetic recombination between tuberous sclerosis and oncogene v-abl by Povey, S, Burley, M W, Fryer, A E, Osborne, J, Al-Gazali, L I, Mueller, R

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Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here? by Cavalleri, Gianpiero L., Lynch, John M., Depondt, Chantal, Burley, Mari-Wyn, Wood, Nicholas W., Sisodiya, Sanjay M., Goldstein, David B.

“…Temporal lobe epilepsy (TLE), traditionally thought to develop largely due to environmental factors, has recently become the focus of association studies in an…”
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Mapping ESTs to the TSC1 candidate interval by use of the ‘Science 96’ transcript map by WOLFE, J., JEREMIAH, S., YOUNG, J., BURLEY, M. W., STEWART, H., McCULLEY, M., GRANT, C., NAZ, K., POVEY, S.

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A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus by Nahmias, J, Burley, M W, Povey, S, Porter, C, Craig, I, Wolfe, J

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SIR JAMES GRAHAM.; [TO THE EDITOR OF THE "SPECTATOR"] by BURLEY, WM

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