Výsledky vyhledávání - "Phillip, Moradi"

Akademický článek

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Autor: Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e32330 (2012)

Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the preva

Externí odkaz: https://doaj.org/article/ab358eecd7e74aa495b458512900acef

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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Autor: Leo, Sheck, Wayne I L, Davies, Phillip, Moradi, Anthony G, Robson, Neruban, Kumaran, Alki C, Liasis, Andrew R, Webster, Anthony T, Moore, Michel, Michaelides

Publikováno v: Ophthalmology

Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57182bc1a380047f360c4a4b9014e2a2
https://pubmed.ncbi.nlm.nih.gov/29398085

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Teenagers' perceptions of blindness related to smoking: a novel message to a vulnerable group

Autor: Simon P Kelly, Stephen J Washington, Richard Edwards, Judith Thornton, Roger A Harrison, Phillip Moradi

Publikováno v: British Journal of Ophthalmology. 91:605-607

Cigarette smoking often starts in teenage years. It is not known whether teenagers are aware of the association of smoking with eye disease and blindness.To explore the knowledge of the link between smoking, and eye diseases and blindness, and the li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0fbd0612821f48c88853f9da2aed4c5
https://doi.org/10.1136/bjo.2006.108191

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Immunodetection of 11β-Hydroxysteroid Dehydrogenase Type 2 in Human Mineralocorticoid Target Tissues: Evidence for Nuclear Localization*

Autor: Martin Hewison, Massimiliano D. Petrelli, Gerald D. Johnson, Masako Shimojo, Alexander J. Howie, Arthur R. Bradwell, Paul M. Stewart, Phillip Moradi, M L Ricketts

Publikováno v: Endocrinology. 138:1305-1311

11 beta-Hydroxysteroid dehydrogenase (11 beta HSI) is an enzyme complex responsible for the conversion of hormonally active cortisol to inactive cortisone; two isoforms of the enzyme have been cloned and characterized. Clinical observations from pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d942eddd29944f6e7b2e2cf36e5e098a
https://doi.org/10.1210/endo.138.3.4994

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RDH12 retinopathy: novel mutations and phenotypic description

Autor: Donna S, Mackay, Arundhati, Dev Borman, Phillip, Moradi, Robert H, Henderson, Zheng, Li, Genevieve A, Wright, Naushin, Waseem, Mamatha, Gandra, Dorothy A, Thompson, Shomi S, Bhattacharya, Graham E, Holder, Andrew R, Webster, Anthony T, Moore

Publikováno v: Molecular Vision

Purpose To identify patients with autosomal recessive retinal dystrophy caused by mutations in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype. Methods After giving informed consent, all patients underwent full clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f4b8814d84879ca2b93c5890d00e92c
https://pubmed.ncbi.nlm.nih.gov/22065924

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Epibulbar molluscum contagiosum lesions in multiple myeloma

Autor: Mani Bhogal, Caroline Thaung, Phillip Moradi, John K G Dart

Publikováno v: Cornea. 30(8)

PURPOSE: To describe the history and clinical presentation of a case of primary epibulbar molluscum contagiosum in multiple myeloma, after penetrating keratoplasty. METHODS: A 70-year-old man, with previously diagnosed multiple myeloma and atopic der

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f81abe86bc4fca445e74098cd3dd273
https://pubmed.ncbi.nlm.nih.gov/21448067

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