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1 - 25 of 91 results for author:"Mackey D." in Literature citations

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Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Mishra A., Yazar S., Hewitt A.W., Mountain J.A., Ang W., Pennell C.E., Martin N.G., Montgomery G.W., Hammond C.J., Young T.L. et al.

Invest. Ophthalmol. Vis. Sci. 53:7131-7136(2012) · Mapped (1)

Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.

Dimasi D.P., Burdon K.P., Hewitt A.W., Fitzgerald J., Wang J.J., Healey P.R., Mitchell P., Mackey D.A., Craig J.E.

Am. J. Ophthalmol. 154:833-842.e2(2012) · Mapped (7)

Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.

Sharma S., Burdon K.P., Chidlow G., Klebe S., Crawford A., Dimasi D.P., Dave A., Martin S., Javadiyan S., Wood J.P. et al.

Invest. Ophthalmol. Vis. Sci. 53:4917-4925(2012) · Mapped (5)

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards T.L., Burt B.O., Black G.C., Perveen R., Kearns L.S., Staffieri S.E., Toomes C., Buttery R.G., Mackey D.A.

Clin. Experiment. Ophthalmol. 40:476-483(2012) · Mapped (7)

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

Wellcome Trust Case Control Consortium 2
van Koolwijk L.M., Ramdas W.D., Ikram M.K., Jansonius N.M., Pasutto F., Hysi P.G., Macgregor S., Janssen S.F., Hewitt A.W., Viswanathan A.C. et al.

PLoS Genet. 8:e1002611-e1002611(2012) · Mapped (12)

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

Webb T.R., Matarin M., Gardner J.C., Kelberman D., Hassan H., Ang W., Michaelides M., Ruddle J.B., Pennell C.E., Yazar S. et al.

Am. J. Hum. Genet. 90:247-259(2012) · UniProtKB (1) · Mapped (4)

Role of the TCF4 gene intronic variant in normal variation of corneal endothelium.

Mackey D.A., Warrington N.M., Hewitt A.W., Oates S.K., Yazar S., Soloshenko A., Crawford G.J., Mountain J.A., Pennell C.E.

Cornea 31:162-166(2012) · Mapped (15)

The role of toll-like receptor variants in acute anterior uveitis.

Wellcome Trust Case Control Consortium 2
Pratap D.S., Lim L.L., Wang J.J., Mackey D.A., Kearns L.S., Stawell R.J., Burdon K.P., Mitchell P., Craig J.E., Hall A.J. et al.

Mol. Vis. 17:2970-2977(2011) · Mapped (2)

Separable fragments and membrane tethering of Arabidopsis RIN4 regulate its suppression of PAMP-triggered immunity.

Afzal A.J., da Cunha L., Mackey D.

Plant Cell 23:3798-3811(2011) · Mapped (2)

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Van Bergen N.J., Crowston J.G., Kearns L.S., Staffieri S.E., Hewitt A.W., Cohn A.C., Mackey D.A., Trounce I.A.

PLoS ONE 6:e21347-e21347(2011) · Mapped (10)

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

Burdon K.P., Macgregor S., Hewitt A.W., Sharma S., Chidlow G., Mills R.A., Danoy P., Casson R., Viswanathan A.C., Liu J.Z. et al.

Nat. Genet. 43:574-578(2011) · Mapped (5)

Specific threonine phosphorylation of a host target by two unrelated type III effectors activates a host innate immune receptor in plants.

Chung E.H., da Cunha L., Wu A.J., Gao Z., Cherkis K., Afzal A.J., Mackey D., Dangl J.L.

Cell Host Microbe 9:125-136(2011) · Mapped (3)

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

Kinnick T.R., Mullins R.F., Dev S., Leys M., Mackey D.A., Kay C.N., Lam B.L., Fishman G.A., Traboulsi E., Iezzi R. et al.

Retina (Philadelphia, Pa.) 31:581-595(2011) · Mapped (9)

Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma.

Burdon K.P., Hewitt A.W., Mackey D.A., Mitchell P., Craig J.E.

Mol. Vis. 16:2286-2293(2010) · Mapped (6)

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

Cohn A.C., Turnbull C., Ruddle J.B., Guymer R.H., Kearns L.S., Staffieri S., Daggett H.T., Hewitt A.W., Mackey D.A.

Eye (Lond) 25:208-217(2011) · Mapped (9)

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

Azmanov D.N., Dimitrova S., Florez L., Cherninkova S., Draganov D., Morar B., Saat R., Juan M., Arostegui J.I., Ganguly S. et al.

Eur. J. Hum. Genet. 19:326-333(2011) · Mapped (10)

Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.

Global BPgen Consortium
Ikram M.K., Sim X., Xueling S., Jensen R.A., Cotch M.F., Hewitt A.W., Ikram M.A., Wang J.J., Klein R., Klein B.E. et al.

PLoS Genet. 6:e1001184-e1001184(2010) · Mapped (24)

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

Solouki A.M., Verhoeven V.J., van Duijn C.M., Verkerk A.J., Ikram M.K., Hysi P.G., Despriet D.D., van Koolwijk L.M., Ho L., Ramdas W.D. et al.

Nat. Genet. 42:897-901(2010) · Mapped (5)

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Thorleifsson G., Walters G.B., Hewitt A.W., Masson G., Helgason A., DeWan A., Sigurdsson A., Jonasdottir A., Gudjonsson S.A., Magnusson K.P. et al.

Nat. Genet. 42:906-909(2010) · Mapped (9)

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

Hysi P.G., Young T.L., Mackey D.A., Andrew T., Fernandez-Medarde A., Solouki A.M., Hewitt A.W., Macgregor S., Vingerling J.R., Li Y.J. et al.

Nat. Genet. 42:902-905(2010) · Mapped (11)

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

Lu Y., Dimasi D.P., Hysi P.G., Hewitt A.W., Burdon K.P., Toh T., Ruddle J.B., Li Y.J., Mitchell P., Healey P.R. et al.

PLoS Genet. 6:e1000947-e1000947(2010) · Mapped (1)

Digital quantification of human eye color highlights genetic association of three new loci.

Liu F., Wollstein A., Hysi P.G., Ankra-Badu G.A., Spector T.D., Park D., Zhu G., Larsson M., Duffy D.L., Montgomery G.W. et al.

PLoS Genet. 6:e1000934-e1000934(2010) · Mapped (1)

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.

Metlapally R., Ki C.S., Li Y.J., Tran-Viet K.N., Abbott D., Malecaze F., Calvas P., Mackey D.A., Rosenberg T., Paget S. et al.

Invest. Ophthalmol. Vis. Sci. 51:4476-4479(2010) · Mapped (7)

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Macgregor S., Hewitt A.W., Hysi P.G., Ruddle J.B., Medland S.E., Henders A.K., Gordon S.D., Andrew T., McEvoy B., Sanfilippo P.G. et al.

Hum. Mol. Genet. 19:2716-2724(2010) · Mapped (20)

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.

Dimasi D.P., Burdon K.P., Hewitt A.W., Savarirayan R., Healey P.R., Mitchell P., Mackey D.A., Craig J.E.

Mol. Vis. 16:562-569(2010) · Mapped (25)

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