Mackey DA - Search Results

1

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Souma T, et al. Among authors: mackey da. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6. J Clin Invest. 2016. PMID: 27270174 Free PMC article.

2

Glaucoma genetics: where are we? Where will we go?

Craig JE, Mackey DA. Craig JE, et al. Among authors: mackey da. Curr Opin Ophthalmol. 1999 Apr;10(2):126-34. doi: 10.1097/00055735-199904000-00009. Curr Opin Ophthalmol. 1999. PMID: 10537763 Review.

3

The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma.

Baird PN, Dickinson J, Craig JE, Mackey DA. Baird PN, et al. Among authors: mackey da. Am J Ophthalmol. 2001 Apr;131(4):510-1. doi: 10.1016/s0002-9394(00)00812-6. Am J Ophthalmol. 2001. PMID: 11292420

4

Aetiology of congenital and paediatric cataract in an Australian population.

Wirth MG, Russell-Eggitt IM, Craig JE, Elder JE, Mackey DA. Wirth MG, et al. Among authors: mackey da. Br J Ophthalmol. 2002 Jul;86(7):782-6. doi: 10.1136/bjo.86.7.782. Br J Ophthalmol. 2002. PMID: 12084750 Free PMC article.

5

Clinical progression of keratoconus following a Vth nerve palsy.

Ruddle JB, Mackey DA, Downie NA. Ruddle JB, et al. Among authors: mackey da. Clin Exp Ophthalmol. 2003 Aug;31(4):363-5. doi: 10.1046/j.1442-9071.2003.00673.x. Clin Exp Ophthalmol. 2003. PMID: 12880466 No abstract available.

6

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. Burdon KP, et al. Among authors: mackey da. Br J Ophthalmol. 2004 Jan;88(1):79-83. doi: 10.1136/bjo.88.1.79. Br J Ophthalmol. 2004. PMID: 14693780 Free PMC article.

7

Primary infantile glaucoma in an Australian population.

MacKinnon JR, Giubilato A, Elder JE, Craig JE, Mackey DA. MacKinnon JR, et al. Among authors: mackey da. Clin Exp Ophthalmol. 2004 Feb;32(1):14-8. doi: 10.1046/j.1442-9071.2004.00750.x. Clin Exp Ophthalmol. 2004. PMID: 14746584

8

Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family.

Healey DL, Craig JE, Wilkinson CH, Stone EM, Mackey DA. Healey DL, et al. Among authors: mackey da. J Glaucoma. 2004 Aug;13(4):304-11. doi: 10.1097/00061198-200408000-00008. J Glaucoma. 2004. PMID: 15226659

9

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. Burdon KP, et al. Among authors: mackey da. J Med Genet. 2004 Aug;41(8):e106. doi: 10.1136/jmg.2004.018333. J Med Genet. 2004. PMID: 15286166 Free PMC article. No abstract available.

10

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study.

Baird PN, Richardson AJ, Craig JE, Mackey DA, Rochtchina E, Mitchell P. Baird PN, et al. Among authors: mackey da. Clin Exp Ophthalmol. 2004 Oct;32(5):518-22. doi: 10.1111/j.1442-9071.2004.00886.x. Clin Exp Ophthalmol. 2004. PMID: 15498064

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