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. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.017. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863275 Free PMC article. No abstract available.

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

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.

4

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.

5

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

6

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

7

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

8

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF. Marchbank NJ, et al. Among authors: mackey da. J Med Genet. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47. J Med Genet. 2002. PMID: 12161614 Free PMC article. No abstract available.

9

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.

10

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Toomes C, et al. Among authors: mackey da. Am J Hum Genet. 2004 Apr;74(4):721-30. doi: 10.1086/383202. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024691 Free PMC article.

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