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Browsing by Author Burdon, Kathryn Penelope

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PreviewIssue DateTitleAuthor(s)
2014Identification of a novel MYOC mutation, p.Trp373X, in a family with open angle glaucomaCrawford, April; Souzeau, Emmanuelle; Agar, A; Ridge, B; Dubowsky, A; Burdon, Kathryn Penelope; Craig, Jamie E
Mar-2013Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian familyLaurie, Kate; Dave, Alpana; Straga, Tania; Souzeau, Emmanuelle; Chataway, Timothy Kennion; Sykes, Matthew James; Casey, Theresa; Teo, Theodosia; Pater, John Brian; Craig, Jamie E; Sharma, Shiwani; Burdon, Kathryn Penelope
2009Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry.Chataway, Timothy Kennion; Sharma, Shiwani; Burdon, Kathryn Penelope; Jonavicius, Lisa; Klebe, Sonja; Hewitt, Alex W; Mills, Richard Arthur; Craig, Jamie
2005Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal diseaseEngeler Dusel, J A; Burdon, Kathryn Penelope; Hicks, P J; Bowden, Donald W; Freedman, Barry I
2003Investigation of albinism genes in congenital esotropiaBurdon, Kathryn Penelope; Wilkinson, Robin M; Barbour, Julie M; Dickinson, Joanne L; Stankovich, Jim M; Mackey, David A; Sale, Michele M
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
2009Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataractBurdon, Kathryn Penelope; Bhattacharya, Shomi S; Hau, Rui; Moore, Anthony T; Zhang, Tianxiao; Xiao, Wei; Zhao, Xiuli; Mackey, David A; Luo, Yang; Craig, Jamie; Shang, Dandan; Zhang, Jinsong; Zhang, Xue
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
Showing results 35 to 54 of 67
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