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Browsing by Author Burdon, Kathryn Penelope

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Showing results 27 to 46 of 46
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PreviewIssue DateTitleAuthor(s)
Jan-2004Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.Burdon, Kathryn Penelope; Wirth, M Gabriela; Mackey, David A; Russell-Eggit, Isabelle M; Craig, Jamie E; Elder, James E; Dickinson, Joanne L; Sale, Michele M
2004Investigation of crystallin genes in familial cataract, and report of two disease associated mutationsMackay, D A; Craig, Jamie E; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Dickinson, Joanne L; Elder, James E; Burdon, Kathryn Penelope
2008Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataractMackey, David A; Craig, Jamie E; Burdon, Kathryn Penelope; Lachke, Salil A; Hattersely, Kathryn; Laurie, Kate; Maas, Richard L
5-Aug-2013Mutational analysis of MIR184 in sporadic keratoconus and myopiaWilloughby, CE; Lechner, J; Bae, HA; Guduric-Fuchs, J; Rice, A; Govindarajan, G; Siddiqui, S; Farraj, LA; Yip, SP; Yap, M; Das, M; Souzeau, E; Coster, D; Mills, RA; Lindsay, R; Phillips, T; Mitchell, P; Ali, M; Inglehearn, CF; Sundaresan, P; Simpson, DA; Craig, Jamie E; Burdon, Kathryn Penelope
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardationThomas, P; Thomas, T; Voss, A K; Sharma, Shiwani; Russell-Eggit, Isabelle M; Craig, Jamie E; Sale, Michele M; Mackey, David A; Wirth, M Gabriela; Gajovic, S; Clarke, M P; Gecz, Jozef; Elder, James E; Gruss, P; Fitzgerald, Liesel M; McKay, James D; Shaw, Marie A; Nicholl, A; Ross, S; Stankich, J M; Burdon, Kathryn Penelope
2006Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurityDickinson, Joanne L; Sale, Michele M; Passmore, Abraham; Fitzgerald, Liesel M; Wheatley, Catherine M; Burdon, Kathryn Penelope; Craig, Jamie E; Tengtrisorn, Supaporn; Carden, Susan M; Maclean, Hector; Mackey, David A
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
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
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
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
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
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
2006Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)Burdon, Kathryn Penelope; Langefeld, Carl D; Beck, Stephanie R; Wagenknecht, Lynne M; Carr, John Jeffery; Rich, Stephen S; Freedman, Barry I; Herrington, David M; Bowden, Donald W
Showing results 27 to 46 of 46
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