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Browsing by Author Craig, Jamie E

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Showing results 16 to 35 of 42
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PreviewIssue DateTitleAuthor(s)
2003Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentationsToohey, M G; Chen, Celia S; Craig, Jamie E; Mackey, David A; Wirth, M Gabriela; Clark, J B; Elder, James E; Grant, G; McLeod, J L; Kirkland, M A; Kowal, L; Roberts, S; Savoia, H F
2007Heritable features of the optic disc: a novel twin method for determining genetic significanceAlward, Wallace L M; Hewitt, Alex W; Poulsen, Johan P; Bennett, Sonya L; Budde, Wido M; Cooper, Richard L; Craig, Jamie E; Fingert, John H; Foster, Paul J; Garway-Heath, David F; Green, Catherine M; Hammond, Christopher J; Hayreh, Sohan S; Jonas, Jost B; Kaufman, Paul L; Miller, Neil R; Morgan, William H; Newman, Nancy J; Quigley, Harry A; Samples, John R; Spaeth, George L; Pesudovs, Konrad; Mackey, David A
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
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
2005Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucomaDimasi, David Paul; Hewitt, Alex W; Green, Catherine M; Mackey, David A; Craig, Jamie E
2005Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigreeCharlesworth, Jac C; Dyer, Thomas D; Stankovich, Jim M; Blangero, John; Mackey, David A; Craig, Jamie E; Green, Catherine M; Baird, Paul N; Sale, Michele M; Foote, Simon J
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
2008Myocilin allele-specific glaucoma phenotype databaseCraig, Jamie E; Hewitt, Alex W; Mackey, David A
2006A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous casesHewitt, Alex W; Bennett, Sonya L; Dimasi, David Paul; Craig, Jamie E; Mackey, David A
2007Myocilin Gly252Arg mutation and glaucoma of intermediate severity in caucasian individualsHewitt, Alex W; Bennett, Sonya L; Richards, J E; Dimasi, David Paul; Booth, Adam P; Inglehearn, Chris; Anwar, Rashida; Yamamoto, Tetsuya; Fingert, John H; Heon, Elise; Craig, Jamie E; Mackey, David A
2006Nance-Horan syndrome protein, NHS, associates with epithelial cell junctionsSharma, Shiwani; Ang, Sharyn; Shaw, Marie A; Mackey, David A; Gecz, Jozef; McAvoy, J; Craig, Jamie E
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
2007The optic nerve head in myocilin glaucomaHewitt, Alex W; Bennett, Sonya L; Fingert, John H; Cooper, Richard L; Stone, Edwin M; Craig, Jamie E; Mackey, David A
26-Sep-2012The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in Caucasians with primary open angle glaucomaWiggs, Janey L; Hewitt, Alex W; Fan, Bao Jian; Wang, Dan Yi; O'Brien, Colm; Realini, Anthony; Craig, Jamie E; Dimasi, David Paul; Mackey, David A; Haines, Jonathan L; Pasquale, Louis R; Figueiredo Sena, Dayse R
Showing results 16 to 35 of 42
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