Mackey DA - Search Results

1

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Musolf AM, Haarman AEG, Luben RN, Ong JS, Patasova K, Trapero RH, Marsh J, Jain I, Jain R, Wang PZ, Lewis DD, Tedja MS, Iglesias AI, Li H, Cowan CS; Consortium for Refractive Error and Myopia (CREAM); Biino G, Klein AP, Duggal P, Mackey DA, Hayward C, Haller T, Metspalu A, Wedenoja J, Pärssinen O, Cheng CY, Saw SM, Stambolian D, Hysi PG, Khawaja AP, Vitart V, Hammond CJ, van Duijn CM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE. Musolf AM, et al. Among authors: mackey da. Commun Biol. 2023 Jan 3;6(1):6. doi: 10.1038/s42003-022-04323-7. Commun Biol. 2023. PMID: 36596879 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

Laboratory methods in ophthalmic genetics: obtaining DNA from patients.

Dickinson JL, Sale MM, Craig JE, Mackey DA. Dickinson JL, et al. Among authors: mackey da. Ophthalmic Genet. 2001 Mar;22(1):49-60. doi: 10.1076/opge.22.1.49.2240. Ophthalmic Genet. 2001. PMID: 11262650 Review.

4

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

5

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

Craig JE, Baird PN, Healey DL, McNaught AI, McCartney PJ, Rait JL, Dickinson JL, Roe L, Fingert JH, Stone EM, Mackey DA. Craig JE, et al. Among authors: mackey da. Ophthalmology. 2001 Sep;108(9):1607-20. doi: 10.1016/s0161-6420(01)00654-6. Ophthalmology. 2001. PMID: 11535458

6

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.

7

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.

8

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

9

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

10

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.

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