Vincent AL - Search Results

1

Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.

Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN. Vincent AL, et al. Invest Ophthalmol Vis Sci. 2014 Aug 5;55(9):5629-35. doi: 10.1167/iovs.14-14532. Invest Ophthalmol Vis Sci. 2014. PMID: 25097247

2

Inherited corneal disease: the evolving molecular, genetic and imaging revolution.

Vincent AL, Patel DV, McGhee CN. Vincent AL, et al. Clin Exp Ophthalmol. 2005 Jun;33(3):303-16. doi: 10.1111/j.1442-9071.2005.01011.x. Clin Exp Ophthalmol. 2005. PMID: 15932539 Review.

3

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: vincent al. Mol Vis. 2008 Aug 18;14:1503-12. Mol Vis. 2008. PMID: 18728790 Free PMC article.

4

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. Mol Vis. 2009 Aug 26;15:1700-8. Mol Vis. 2009. PMID: 19710953 Free PMC article.

5

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. 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

6

Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.

Vincent AL, Niederer RL, Richards A, Karolyi B, Patel DV, McGhee CN. Vincent AL, et al. Mol Vis. 2009 Dec 3;15:2544-53. Mol Vis. 2009. PMID: 19997581 Free PMC article.

7

Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.

Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL. Pradhan MA, et al. Among authors: vincent al. Cornea. 2011 Oct;30(10):1163-6. doi: 10.1097/ICO.0b013e31821142b5. Cornea. 2011. PMID: 21743312

8

Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

Patel HY, Richards AJ, De Karolyi B, Best SJ, Danesh-Meyer HV, Vincent AL. Patel HY, et al. Among authors: vincent al. 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

9

Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant.

Vincent AL, Jordan C, Sheck L, Niederer R, Patel DV, McGhee CN. Vincent AL, et al. Mol Vis. 2013 Apr 11;19:852-60. Print 2013. Mol Vis. 2013. PMID: 23592923 Free PMC article.

10

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, Stranecky V, Carnt N, Plagnol V, Vincent AL, Tuft SJ, Hardcastle AJ. Liskova P, et al. Among authors: vincent al. Eur J Hum Genet. 2016 Jul;24(7):985-91. doi: 10.1038/ejhg.2015.232. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508574 Free PMC article.

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