Sökresultat - Kathryn P. Burdon
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Sequence Variation in DDAH1 and DDAH2 Genes Is Strongly and Additively Associated with Serum ADMA Concentrations in Individuals with Type 2 Diabetes av Sotoodeh Abhary, Kathryn P. Burdon, Abraham Kuot, Shahrbanou Javadiyan, Malcolm J. Whiting, Nicholas Kasmeridis, Nikolai Petrovsky, Jamie E. Craig
Publicerad 2010Artigo -
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Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process av Abraham Kuot, Alex W. Hewitt, Kim Griggs, Sonja Klebe, Richard Mills, Vishal Jhanji, Jamie E. Craig, Shiwani Sharma, Kathryn P. Burdon
Publicerad 2012Artigo -
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Genetic analysis of the soluble epoxide hydrolase gene, <i>EPHX2</i>, in subclinical cardiovascular disease in the Diabetes Heart Study av Kathryn P. Burdon, Allison B. Lehtinen, Carl D. Langefeld, J. Jeffrey Carr, Stephen S. Rich, Barry I. Freedman, David M. Herrington, Donald W. Bowden
Publicerad 2008Artigo -
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Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people av Alex W. Hewitt, Shiwani Sharma, Kathryn P. Burdon, J. J. Wang, Paul N. Baird, David P. Dimasi, David A. Mackey, Paul Mitchell, Jamie E. Craig
Publicerad 2007Artigo -
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Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy av Nicole J. Van Bergen, Jonathan G. Crowston, Jamie E. Craig, Kathryn P. Burdon, Lisa S. Kearns, Shiwani Sharma, Alex W. Hewitt, David A. Mackey, Ian A. Trounce
Publicerad 2015Artigo -
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Mutations of the<i>EPHA2</i>receptor tyrosine kinase gene cause autosomal dominant congenital cataract av Tianxiao Zhang, Rui Hua, Wei Xiao, Kathryn P. Burdon, Shomi S. Bhattacharya, Jamie E. Craig, Dandan Shang, Xiuli Zhao, David A. Mackey, Anthony T. Moore, Yang Luo, Jinsong Zhang, Xue Zhang
Publicerad 2009Artigo -
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Mutations in the <i>NDP</i> gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity av Joanne L. Dickinson, Michèle M. Sale, Abraham Passmore, Liesel M. FitzGerald, Catherine Wheatley, Kathryn P. Burdon, Jamie E. Craig, Supaporn Tengtrisorn, Susan M. Carden, Hector Maclean, David A. Mackey
Publicerad 2006Artigo -
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Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice av Rajya Laxmi Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan J. Vote, Nitin Verma, Jamie E. Craig, Kathryn P. Burdon
Publicerad 2023Artigo -
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Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma av Mona S. Awadalla, John H. Fingert, Benjamin E. Roos, Simon Chen, Richard Holmes, Stuart L. Graham, Mark Chehade, Anna Galanopolous, Bronwyn Ridge, Emmanuelle Souzeau, Tiger Zhou, Owen M. Siggs, Alex W. Hewitt, David A. Mackey, Kathryn P. Burdon, Jamie E. Craig
Publicerad 2014Artigo -
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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel av Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina N. Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Publicerad 2022Artigo -
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Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy av Patricia Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig, Kathryn P. Burdon
Publicerad 2018Artigo -
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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma av Owen M. Siggs, Emmanuelle Souzeau, Deepa Taranath, Andrew Dubowsky, Angela Chappell, Tiger Zhou, Shari Javadiyan, Jillian Nicholl, Lisa S. Kearns, Sandra E. Staffieri, Andrew Narita, James E. Smith, John Pater, Alex W. Hewitt, Jonathan B. Ruddle, James E. Elder, David A. Mackey, Kathryn P. Burdon, Jamie E. Craig
Publicerad 2020Artigo -
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Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma av Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R. Healey, Stuart L. Graham, Alex W. Hewitt, David A. Mackey, Anna Galanopoulos, Robert J. Casson, Jonathan B. Ruddle, Jonathan Ellis, Paul Leo, Matthew A. Brown, Stuart MacGregor, David J. Lynn, Kathryn P. Burdon, Jamie E. Craig
Publicerad 2017Artigo -
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Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies av Xikun Han, Emmanuelle Souzeau, Jue‐Sheng Ong, Jiyuan An, Owen M. Siggs, Kathryn P. Burdon, Stephen Best, Ivan Goldberg, Paul R. Healey, Stuart L. Graham, Jonathan B. Ruddle, Richard Mills, John Landers, Anna Galanopoulos, Andrew White, Robert J. Casson, David A. Mackey, Alex W. Hewitt, Puya Gharahkhani, Jamie E. Craig, Stuart MacGregor
Publicerad 2018Artigo -
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Prevalence of<i>FOXC1</i>Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma av Owen M. Siggs, Emmanuelle Souzeau, Francesca Pasutto, Andrew Dubowsky, James E. Smith, Deepa Taranath, John Pater, Julian L Rait, Andrew Narita, Lucia Mauri, Alessandra Longo, André Reis, Angela Chappell, Lisa S. Kearns, Sandra E. Staffieri, James E. Elder, Jonathan B. Ruddle, Alex W. Hewitt, Kathryn P. Burdon, David A. Mackey, Jamie E. Craig
Publicerad 2019Artigo
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Biology
Genetics
Medicine
Gene
Genotype
Single-nucleotide polymorphism
Genome-wide association study
Glaucoma
Ophthalmology
Genetic association
Neuroscience
Internal medicine
Open angle glaucoma
Endocrinology
Bioinformatics
Computational biology
Diabetes mellitus
Environmental health
Pathology
Population
Phenotype
Cornea
Odds ratio
SNP
Cohort
Diabetic retinopathy
Keratoconus
Locus (genetics)
Quantitative trait locus
Retinopathy