Research Topics
Species | Aine RiceSummaryAffiliation: University of Leeds Country: UK Publications
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Detail Information
Publications
Replication of the recessive STBMS1 locus but with dominant inheritanceAine Rice
Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
Invest Ophthalmol Vis Sci 50:3210-7. 2009..The purpose of this study was to determine the frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia (PNCE)...
Endothelial cell survival and graft profile analysis in descemet stripping endothelial keratoplastyAine Rice
Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
Cornea 30:865-71. 2011..To report the results of descemet stripping endothelial keratoplasty (DSEK) for a single-surgeon, consecutive case series...
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc colobomaManir Ali
Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, UK
Mol Vis 16:1162-8. 2010..To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico...
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan
Leeds Institute of Molecular Medicine, Leeds, United Kingdom
Invest Ophthalmol Vis Sci 52:4294-9. 2011..To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous...
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter
Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, UK
Am J Hum Genet 86:248-53. 2010..This study provides further evidence for the importance of the Norrin-beta-catenin signaling pathway in the development of the retinal vasculature and also indicates that more FEVR genes remain to be identified...
