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Browsing by Author Burdon, Kathryn Penelope

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PreviewIssue DateTitleAuthor(s)
2008Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoformSharma, Shiwani; Burdon, Kathryn Penelope; Craig, Jamie E; Dave, Alpana; Jamieson, Robyn; Yaron, Yuval; Billson, Frank; Maldergem, Lionel; Lorenz, Birgit; Gecz, Jozef
2007A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start siteBurdon, Kathryn Penelope; Sharma, Shiwani; Mackey, David A; Dimasi, David Paul; Craig, Jamie E; Chen, Celia S
2009A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyEdwards, Matthew; Pater, John Brian; Burke, Mary; Straga, Tania; Gecz, Jozef; Liebelt, J E; Craig, Jamie; Burdon, Kathryn Penelope; Durkin, Shane
2008A novel locus for X-lined congenital cataract on Xq24Craig, Jamie E; Friend, K; Gecz, Jozef; Rattray, K M; Troski, Mark; Mackey, David A; Burdon, Kathryn Penelope
2004A novel mutation in the Connexin 46 Gene causes autosomal dominant congenital cataract with incomplete penetranceCraig, Jamie E; Sale, Michele M; Mackey, David A; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Dickinson, Joanne L; Elder, James E; Burdon, Kathryn Penelope
2010Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesChen, Jern Yee; Dimasi, David Paul; Hewitt, Alex W; Klebe, Sonja; Davey, Richard; Stirling, John W; Thompson, E; Forbes, Robin; Tan, Tiong Y; Savarirayan, Ravi; Mackey, David A; Healey, Paul R; Mitchell, Paul; Burdon, Kathryn Penelope; Craig, Jamie
2010A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian aboriginal family maps to 1p35.3-p36.32Hattersely, Kathryn; Laurie, Kate; Leibelt, J E; Gezc, J; Durkin, Shane; Craig, Jamie; Burdon, Kathryn Penelope
2006The PITX3 gene in posterior polar congenital cataract in AustraliaBurdon, Kathryn Penelope; McKay, James D; Wirth, M Gabriela; Ruddle, Jonathan B; Russell-Eggit, Isabelle M; Bhatti, Samira; Dimasi, David Paul; Mackey, David A; Craig, Jamie E
2007Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended familyReches, Adi; Malcov, Mira; Tepper, Ron; Crystal-Shalit, Ornit; Kidron, Dvora; Yaron, Yuval; Burdon, Kathryn Penelope
2005P-selectin gene haplotype associations with albuminuria in the Diabetes Heart StudyLiu, Yongmei; Burdon, Kathryn Penelope; Langefeld, Carl D; Beck, Stephanie R; Wagenknecht, Lynne M; Rich, Stephen S; Bowden, Donald W; Freedman, Barry I
2009Rapid inexpensive genome-wide association using pooled whole bloodCraig, Jamie; Sharma, Shiwani; Hewitt, Alex W; McMellon, Amy E; Henders, Anjali K; Wallace, Leanne; Ma, Lingjun; Burdon, Kathryn Penelope; Visscher, Peter; Montgomery, Grant; Macgregor, Stuart
30-Jul-2013Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconusBae, HA; Mills, RA; Lindsay, RG; Phillips, T; Mitchell, P; Wang, JJ; Coster, Douglas John; Craig, Jamie E; Burdon, Kathryn Penelope
Mar-2014Screening of the COL8A2 gene in an Australian family with early-onset Fuchs’ endothelial corneal dystrophyKuot, Abraham; Mills, Richard Arthur; Craig, Jamie E; Sharma, Shiwani; Burdon, Kathryn Penelope
2010Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetesKuot, Abraham; Javadiyan, Shahrbanou; Abhary, Sotoodeh; Burdon, Kathryn Penelope; Whiting, Malcolm John; Kasmeridis, Nicholas; Petrovsky, Nikolai; Craig, Jamie
2009A systematic meta-analysis of genetic association studies for diabetic retinopathyAbhary, Sotoodeh; Hewitt, Alex W; Craig, Jamie; Burdon, Kathryn Penelope
2005T-786C polymorphism of the endothelial nitric oxide synthase gene is associated with albuminuria in the diabetes heart studyBurdon, Kathryn Penelope; Rich, Stephen S; Bowden, Donald W; Langefeld, Carl D; Beck, Stephanie R; Liu, Yongmei; Wagenknecht, Lynne E; Freedman, Barry I
2010Tag SNPs detect association of teh CYP1B1 gene with primary open angle glaucomaBurdon, Kathryn Penelope; Hewitt, Alex W; Mackey, David A; Craig, Jamie; Mitchell, Paul
Jul-2005The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.McKay, James D; Patterson, B; Craig, Jamie E; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Burdon, Kathryn Penelope; Hewitt, Alex W; Cohn, Amy C; Kerdraon, Y; Mackey, David A
2005The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genesMcKay, James D; Patterson, B; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Burdon, Kathryn Penelope; Cohn, Amy C; Kerdraon, Y; Mackey, David A; Craig, Jamie E; Hewitt, Alex W
2004Variability of serum soluble intercellular adhesion molecule-1 measurements attributable to a common polymorphismRegister, Thomas C; Lenchik, Leon; Burdon, Kathryn Penelope; Bowden, Donald W; Hawkins, Gregory A; Nicklas, Barbara J; Lolman, Kurt; Hsu, Fang-Chi; Langefeld, Carl D; Carr, John Jeffery
Showing results 47 to 66 of 67
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