Mackey DA - Search Results

1

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: mackey da. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 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

Normal range of hearing associated with myocilin Thr377Met.

Simm RM, Fingert JH, Craig JE, McNaught AI, Mackey DA. Simm RM, et al. Among authors: mackey da. Ophthalmic Genet. 1999 Sep;20(3):205-7. doi: 10.1076/opge.20.3.205.2279. Ophthalmic Genet. 1999. PMID: 10610189 No abstract available.

4

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: mackey da. Am J Hum Genet. 2001 Feb;68(2):364-72. doi: 10.1086/318183. Epub 2001 Jan 18. Am J Hum Genet. 2001. PMID: 11170889 Free PMC article.

5

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.

6

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

7

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Toomes C, et al. Among authors: mackey da. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369. Hum Mol Genet. 2001. PMID: 11440989

8

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. McKie AB, et al. Among authors: mackey da. Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555. Hum Mol Genet. 2001. PMID: 11468273

9

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Keen TJ, et al. Among authors: mackey da. Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797. Eur J Hum Genet. 2002. PMID: 12032732

10

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.

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