Search Results - "Dry, K L"

Analysis of Three Deletion Breakpoints in Xp21.1 and the Further Localization of RP3 by Brown, John, Dry, Katherine L., Edgar, Alexander J., Pryde, Fiona E., Hardwick, Lee J., Aldred, Micheala A., Lester, Douglas H., Boyle, Shelagh, Kaplan, Josseline, Dufier, Jean-Louis, Ho, Meng-Fatt, Monaco, Anthony M., Musarella, Maria A., Wright, Alan F.

“…The gene responsible for X-linked retinitis pigmentosa (xlRP) in Xp21.1 (RP3) was initially localized by deletion analysis to within a 150- to 170-kb region…”
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Linkage analysis in X-linked congenital stationary night blindness by Aldred, M A, Dry, K L, Sharp, D M, Van Dorp, D B, Brown, J, Hardwick, L J, Lester, D H, Pryde, F E, Teague, P W, Jay, M

“…X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity,…”
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Catecholamine Release From Bovine Adrenal Chromaffin Cells During Anoxia or Metabolic Inhibition by Dry, Katherine L, Phillips, John H, Dart, Anthony M

“…A significant release of catecholamines within the heart has been observed during myocardial ischemia. Because this can be markedly inhibited by…”
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Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia by Dry, K L, Van Dorp, D B, Aldred, M A, Brown, J, Hardwick, L J, Wright, A F

“…A family is described with X-linked congenital stationary night blindness of the complete type (CSNB1) in which clinical variation between affected males…”
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Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa by Aldred, M A, Dry, K L, Knight-Jones, E B, Hardwick, L J, Teague, P W, Lester, D H, Brown, J, Spowart, G, Carothers, A D, Raeburn, J A

“…A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may…”
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A novel effect of pargyline on cholinergic catecholamine secretion by Dry, K L, Dart, A M, Phillips, J H

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Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3) by Dry, Katherine L., Manson, Forbes D.C., Lennon, Alan, Bergen, Arthur A.B., Van Dorp, Dieuwke B., Wright, Alan F.

“…We have identified a novel RPGR gene mutation in a large Dutch family with X‐linked retinitis pigmentosa (RP3). In affected members, a G→T transversion was…”
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Catecholamine release from bovine adrenal chromaffin cells during anoxia or metallic inhibition by DRY, K. L, PHILLIPS, J. H, DART, A. M

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Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3) by Dry, K L, Aldred, M A, Edgar, A J, Brown, J, Manson, F D, Ho, M F, Prosser, J, Hardwick, L J, Lennon, A A, Thomson, K

“…A novel gene encoding a 2.2 kilobase transcript has been isolated from the Xp21.1 region of the human X chromosome by exon amplification. The gene, called…”
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