Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
JAMIESON, Robyn V, PERVEEN, Rahat, BLACK, Graeme C. M, KERR, Bronwyn, CARETTE, Martin, YARDLEY, Jill, HEON, Elise, WIRTH, M. Gabriela, VAN HEYNINGEN, Veronica, DONNAI, Di, MUNIER, Francis
Published in Human molecular genetics (2002)
Published in Human molecular genetics (2002)
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Aetiology of congenital and paediatric cataract in an Australian population
Wirth, M G, Russell-Eggitt, I M, Craig, J E, Elder, J E, Mackey, D A
Published in British journal of ophthalmology (01.07.2002)
Published in British journal of ophthalmology (01.07.2002)
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Journal Article
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
Burdon, Kathryn P., McKay, James D., Sale, Michèle M., Russell-Eggitt, Isabelle M., Mackey, David A., Wirth, M. Gabriela, Elder, James E., Nicoll, Alan, Clarke, Michael P., FitzGerald, Liesel M., Stankovich, James M., Shaw, Marie A., Sharma, Shiwani, Gajovic, Srecko, Gruss, Peter, Ross, Shelley, Thomas, Paul, Voss, Anne K., Thomas, Tim, Gécz, Jozef, Craig, Jamie E.
Published in American journal of human genetics (01.11.2003)
Published in American journal of human genetics (01.11.2003)
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Journal Article
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
Burdon, K P, Wirth, M G, Mackey, D A, Russell-Eggitt, I M, Craig, J E, Elder, J E, Dickinson, J L, Sale, M M
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Journal Article
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
Burdon, K P, Wirth, M G, Mackey, D A, Russell-Eggitt, I M, Craig, J E, Elder, J E, Dickinson, J L, Sale, M M
Published in British journal of ophthalmology (01.01.2004)
Published in British journal of ophthalmology (01.01.2004)
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Journal Article
The PITX3 gene in posterior polar congenital cataract in Australia
Burdon, Kathryn P, McKay, James D, Wirth, M Gabriela, Russell-Eggit, Isabelle M, Bhatti, Samira, Ruddle, Jonathan B, Dimasi, David, Mackey, David A, Craig, Jamie E
Published in Molecular vision (18.04.2006)
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Published in Molecular vision (18.04.2006)
Journal Article
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
McKay, J D, Patterson, B, Craig, J E, Russell-Eggitt, I M, Wirth, M G, Burdon, K P, Hewitt, A W, Cohn, A C, Kerdraon, Y, Mackey, D A
Published in British journal of ophthalmology (01.07.2005)
Published in British journal of ophthalmology (01.07.2005)
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Journal Article
Loa loa infection of the eye -- a case series
Stemmle, J, Markwalder, K A, Zinkernagel, A S, Wirth, M G, Grimm, F, Hirsch-Hoffmann, S, Thiel, M A
Published in Klinische Monatsblätter für Augenheilkunde (01.03.2005)
Published in Klinische Monatsblätter für Augenheilkunde (01.03.2005)
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The value of white blood cell count in patients with swollen discs
Wirth, M G, Bergamin, O, Goede, J S, Landau, K
Published in Klinische Monatsblätter für Augenheilkunde (01.05.2004)
Published in Klinische Monatsblätter für Augenheilkunde (01.05.2004)
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