Vincent AL - Search Results

1

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.

Hull S, Sheck L, Braatvedt G, Mouat F, Jefferies C, Yap P, Murphy R, Vincent AL. Hull S, et al. Among authors: vincent al. Ophthalmic Genet. 2024 Nov 18:1-8. doi: 10.1080/13816810.2024.2426561. Online ahead of print. Ophthalmic Genet. 2024. PMID: 39552476

2

Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.

Sheck LH, Wilson CJ, Vincent AL. Sheck LH, et al. Among authors: vincent al. Ophthalmic Genet. 2012 Dec;33(4):253-6. doi: 10.3109/13816810.2012.716489. Epub 2012 Sep 6. Ophthalmic Genet. 2012. PMID: 22950450

3

Peripheral pigmented lesions in ABCA4-associated retinopathy.

Al-Ani HH, Sheck L, Vincent AL. Al-Ani HH, et al. Among authors: vincent al. Ophthalmic Genet. 2021 Aug;42(4):383-391. doi: 10.1080/13816810.2021.1897850. Epub 2021 Mar 11. Ophthalmic Genet. 2021. PMID: 33706644

4

Clinical findings and molecular diagnosis of retinoblastoma in older children.

Sheck LH, Ng YS, Watson M, Vincent AL. Sheck LH, et al. Among authors: vincent al. Ophthalmic Genet. 2013 Dec;34(4):238-42. doi: 10.3109/13816810.2012.752015. Epub 2013 Jan 4. Ophthalmic Genet. 2013. PMID: 23289805

5

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.

Hull S, Kiray G, Chiang JP, Vincent AL. Hull S, et al. Among authors: vincent al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):708-717. doi: 10.1002/ajmg.c.31836. Epub 2020 Aug 28. Am J Med Genet C Semin Med Genet. 2020. PMID: 32856788

6

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.

Loveridge-Easther C, Kiray G, Hull S, Vincent AL. Loveridge-Easther C, et al. Among authors: vincent al. Ophthalmic Genet. 2022 Oct;43(5):685-688. doi: 10.1080/13816810.2022.2083182. Epub 2022 Jun 7. Ophthalmic Genet. 2022. PMID: 35672901

7

Alström syndrome--an uncommon cause of early childhood retinal dystrophy.

Sheck L, Al-Taie R, Sharp D, Vincent A. Sheck L, et al. Among authors: vincent a, al taie r. BMJ Case Rep. 2011 Aug 17;2011:bcr0620114388. doi: 10.1136/bcr.06.2011.4388. BMJ Case Rep. 2011. PMID: 22688943 Free PMC article.

8

Retinal haemorrhages in a child struck by a barbell.

Sheck LH, Kelly P, Vincent AL. Sheck LH, et al. Among authors: vincent al. Clin Exp Ophthalmol. 2016 Jan-Feb;44(1):64-5. doi: 10.1111/ceo.12574. Epub 2015 Jul 29. Clin Exp Ophthalmol. 2016. PMID: 26140424 No abstract available.

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

Diabetic eye disease and screening attendance by ethnicity in New Zealand: A systematic review.

Ramke J, Jordan V, Vincent AL, Harwood M, Murphy R, Ameratunga S. Ramke J, et al. Among authors: vincent al. Clin Exp Ophthalmol. 2019 Sep;47(7):937-947. doi: 10.1111/ceo.13528. Epub 2019 May 20. Clin Exp Ophthalmol. 2019. PMID: 31034719

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

285 results

Search Page

Filters