|
|
Flinders Academic Commons >
Browsing by Author Burdon, Kathryn Penelope
Showing results 19 to 32 of 32
| Issue Date | Title | Author(s) | | 2003 | Mutations in a novel gene, NHS, cause the
pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental
anomalies and mental retardation | Thomas, 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 |
| 2006 | Mutations in the NDP gene: contribution to Norrie
disease, familial exudative vitreoretinopathy and retinopathy of prematurity | Dickinson, 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 |
| 2008 | Novel causative mutations in patients with
Nance-Horan Syndrome and altered localization of the mutant NHS-A protein
isoform | Sharma, Shiwani; Burdon, Kathryn Penelope; Craig, Jamie E; Dave, Alpana; Jamieson, Robyn; Yaron, Yuval; Billson, Frank; Maldergem, Lionel; Lorenz, Birgit; Gecz, Jozef |
| 2007 | A novel deletion in the FTL gene causes hereditary
hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start
site | Burdon, Kathryn Penelope; Sharma, Shiwani; Mackey, David A; Dimasi, David Paul; Craig, Jamie E; Chen, Celia S |
| 2008 | A novel locus for X-lined congenital cataract on
Xq24 | Craig, Jamie E; Friend, K; Gecz, Jozef; Rattray, K M; Troski, Mark; Mackey, David A; Burdon, Kathryn Penelope |
| 2004 | A novel mutation in the Connexin 46 Gene causes
autosomal dominant congenital cataract with incomplete penetrance | Craig, Jamie E; Sale, Michele M; Mackey, David A; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Dickinson, Joanne L; Elder, James E; Burdon, Kathryn Penelope |
| 2006 | The PITX3 gene in posterior polar congenital
cataract in Australia | Burdon, Kathryn Penelope; McKay, James D; Wirth, M Gabriela; Ruddle, Jonathan; Russell-Eggit, Isabelle M; Bhatti, Samira; Dimasi, David Paul; Mackey, David A; Craig, Jamie E |
| 2007 | Prenatal detection of congenital bilateral
cataract leading to the diagnosis of Nance-Horan syndrome in the extended
family | Reches, Adi; Malcov, Mira; Tepper, Ron; Crystal-Shalit, Ornit; Kidron, Dvora; Yaron, Yuval; Burdon, Kathryn Penelope |
| 2005 | P-selectin gene haplotype associations with
albuminuria in the Diabetes Heart Study | Liu, Yongmei; Burdon, Kathryn Penelope; Langefeld, Carl D; Beck, Stephanie R; Wagenknecht, Lynne M; Rich, Stephen S; Bowden, Donald W; Freedman, Barry I |
| 2005 | T-786C polymorphism of the endothelial nitric
oxide synthase gene is associated with albuminuria in the diabetes heart study | Burdon, Kathryn Penelope; Rich, Stephen S; Bowden, Donald W; Langefeld, Carl D; Beck, Stephanie R; Liu, Yongmei; Wagenknecht, Lynne E; Freedman, Barry I |
| Jul-2005 | The 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 |
| 2005 | The telomere of human chromosome 1p contains at
least two independent autosomal dominant congenital cataract genes | McKay, 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 |
| 2004 | Variability of serum soluble intercellular
adhesion molecule-1 measurements attributable to a common polymorphism | Register, 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 |
| 2006 | Variants 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 19 to 32 of 32
|
