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Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
Clin Exp Ophthalmol. 2012 May-Jun;40(4):e208-17. doi: 10.1111/j.1442-9071.2011.02714.x. Epub 2011 Dec 6.
Clin Exp Ophthalmol. 2012.
PMID: 22004014
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.
Vincent AL, Markie DM, De Karolyi B, Wheeldon CE, Patel DV, Grupcheva CN, McGhee CN.
Vincent AL, et al. Among authors: de karolyi b.
Mol Vis. 2009 Aug 26;15:1700-8.
Mol Vis. 2009.
PMID: 19710953
Free PMC article.
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TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
Vincent AL, de Karolyi B, Patel DV, Wheeldon CE, McGhee CN.
Vincent AL, et al. Among authors: de karolyi b.
Br J Ophthalmol. 2010 Jul;94(7):836-42. doi: 10.1136/bjo.2009.159632. Epub 2009 Nov 30.
Br J Ophthalmol. 2010.
PMID: 19948560
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A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.
Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL.
Wheeldon CE, et al. Among authors: de karolyi bh.
Mol Vis. 2008 Aug 18;14:1503-12.
Mol Vis. 2008.
PMID: 18728790
Free PMC article.
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