Search Results - "Morley, S M"

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect by Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, S. Morley, Ana M., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., Lehmann, Alan R.

“…Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin…”
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A novel integrated practice unit approach to peri-ocular skin cancer management by Goh, L. Y., Downie, C., Morley, A. M. S.

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Calciphylaxis - a topical overview by Arseculeratne, G, Evans, AT, Morley, SM

“…‘Calciphylaxis’, a calcification syndrome associated with ischaemic cutaneous necrosis, is acquired naturally in humans in disease states. It is a life and…”
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Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations by Morley, S.M., D'Alessandro, M., Sexton, C., Rugg, E.L., Navsaria, H., Shemanko, C.S., Huber, M., Hohl, D., Heagerty, A.I., Leigh, I.M., Lane, E.B.

“…Summary Background Epidermolysis bullosa simplex (EBS) is an inherited skin fragility disorder caused by mutations in keratin intermediate filament proteins…”
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A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis by Morley, S.M., White, M.I., Rogers, M., Wasserman, D., Ratajczak, P., Mclean, W.H.I., Richard, G.

“…Summary Background  Erythrokeratodermia variabilis (EKV) is an autosomal dominant or recessive genodermatosis characterized by the coexistence of randomly…”
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Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases by D'ALESSANDRO, M, MORLEY, S. M, OGDEN, P. H, LIOVIC, M, PORTER, R. M, LANE, E. B

“…A major challenge to the concept of gene therapy for dominant disorders is the silencing or repairing of the mutant allele. Supplementation therapy is an…”
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Orbital radiotherapy for adult thyroid eye disease by Rajendram, Rathie, Bunce, Catey, Lee, Richard W J, Morley, Ana M S

“…Thyroid eye disease is an autoimmune inflammatory condition of the orbital and periorbital tissues. Orbital radiotherapy is an anti-inflammatory treatment used…”
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Techniques of Upper Eyelid Reconstruction by Morley, Ana M.S., MA, FRCOphth, MD, deSousa, Jean-Louis, FRANZCO, Selva, Dinesh, FRACS, FRANZCO, Malhotra, Raman, FRCOphth

“…Abstract Reconstruction of the upper eyelid is one of the greatest challenges facing the orbitofacial surgeon. This comprehensive review outlines the…”
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Keratin 16 and keratin 17 mutations cause pachyonychia congenita by McLean, W.H.I, Rugg, E.L, Lunny, D.P, Morley, S.M, Lane, E.B, Swensson, O, Dopping-Hepenstal, P.J.C, Griffiths, W.A.D, Eady, R.A.J, Higgins, C, Navsaria, H.A, Leigh, I.M, Strachan, T, Kunkeler, L, Munro, C.S

“…Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for…”
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Human Scleral Hydraulic Conductivity: Age-Related Changes, Topographical Variation, and Potential Scleral Outflow Facility by Jackson, Timothy L, Hussain, Ali, Hodgetts, Andrea, Morley, Ana M. S, Hillenkamp, Jost, Sullivan, Paul M, Marshall, John

“…To measure the specific hydraulic conductivity (K) of human sclera over a range of ages, to assess topographical variation, and to provide a theoretical…”
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Scleral Hydraulic Conductivity and Macromolecular Diffusion in Patients with Uveal Effusion Syndrome by Jackson, Timothy L, Hussain, Ali, Morley, Ana M. S, Sullivan, Paul M, Hodgetts, Andrea, El-Osta, Austen, Hillenkamp, Jost, Charles, Stephen J, Sheard, Richard, Williamson, Tom H, Kumar, Anupma, Laidlaw, D. Alistair H, Woon, W. Hong, Costen, Mark J, Luff, Andrew J, Marshall, John

“…To determine whether uveal effusion syndrome (UES) is caused by altered scleral permeability to water and large molecules. Transscleral water movement was…”
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Factors Prompting Sneezing in Intravenously Sedated Patients Receiving Local Anesthetic Injections to the Eyelids by Morley, Ana M.S., FRCOphth, MD, Jazayeri, Fiona, MRCOphth, Ali, Syed, FFARCS, DA, Malhotra, Raman, FRCOphth

“…Purpose To investigate the frequency of sneezing among patients receiving intravenous sedation and periocular local anesthetic for oculoplastic procedures in a…”
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Background characterization of an ultra-low background liquid scintillation counter by Erchinger, J.L., Orrell, J.L., Aalseth, C.E., Bernacki, B.E., Douglas, M., Fuller, E.S., Keillor, M.E., Marianno, C.M., Morley, S.M., Mullen, C.A., Panisko, M.E., Warren, G.A.

“…The Ultra-Low Background Liquid Scintillation Counter developed by Pacific Northwest National Laboratory will expand the application of liquid scintillation…”
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Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients by Morley, S M, Dundas, S R, James, J L, Gupta, T, Brown, R A, Sexton, C J, Navsaria, H A, Leigh, I M, Lane, E B

“…Point mutations in the keratin intermediate filament genes for keratin 5 or keratin 14 are known to cause hereditary skin blistering disorders such as…”
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Measurements of Argon-39 at the U20az underground nuclear explosion site by McIntyre, J.I., Aalseth, C.E., Alexander, T.R., Back, H.O., Bellgraph, B.J., Bowyer, T.W., Chipman, V., Cooper, M.W., Day, A.R., Drellack, S., Foxe, M.P., Fritz, B.G., Hayes, J.C., Humble, P., Keillor, M.E., Kirkham, R.R., Krogstad, E.J., Lowrey, J.D., Mace, E.K., Mayer, M.F., Milbrath, B.D., Misner, A., Morley, S.M., Panisko, M.E., Olsen, K.B., Ripplinger, M.D., Seifert, A., Suarez, R.

“…Pacific Northwest National Laboratory reports on the detection of 39Ar at the location of an underground nuclear explosion on the Nevada Nuclear Security Site…”
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Surgically induced necrotising scleritis following three-port pars plana vitrectomy without scleral buckling: a series of three cases by Morley, A M S, Pavesio, C

“…Aim To document the presentation, management, and prognosis of three cases of surgically induced necrotising scleritis (SINS) following three-port-pars plana…”
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Monitoring laser-induced microstructural changes of thin film hydrogenated amorphous carbon (a-C:H) using Raman spectroscopy by Lamberton, R.W., Morley, S.M., Maguire, P.D., McLaughlin, J.A.

“…Thin films (10 - 150 nm) of a-C:H on glass and silicon substrates have been studied utilizing a confocal micro Raman system using an argon ion laser (514.5 nm)…”
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Primary lacrimal sac melanoma: a case report describing the novel use of fine needle aspiration cytology (FNAC) for diagnosis, together with literature review and immunotherapy treatment update by Goh, Li Yen, Limbachia, Ketan, Moonim, Mufaddal, Morley, Ana M S

“…Primary lacrimal sac melanoma (PLSM) is exceedingly rare and associated with high morbidity and mortality. Unfortunately, PLSM often presents insidiously…”
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Development of a low background liquid scintillation counter for a shallow underground laboratory by Erchinger, J.L., Aalseth, C.E., Bernacki, B.E., Douglas, M., Fuller, E.S., Keillor, M.E., Morley, S.M., Mullen, C.A., Orrell, J.L., Panisko, M.E., Warren, G.A., Williams, R.O., Wright, M.E.

“…Pacific Northwest National Laboratory has recently opened a shallow underground laboratory intended for measurement of low-concentration levels of radioactive…”
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Ocular protection in congenital erythropoietic porphyria: A potential role for gaming glasses by Fityan, A, Aneju, G A, Morley, A M S, Sarkany, R

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