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Meeting Abstract (11)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (14)

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ARVO Annual Meeting Abstract (11)
Multidisciplinary Ophthalmic Imaging (1)
Retina (1)
Visual Psychophysics and Physiological Optics (1)

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Eye Anatomy and Disorders (3)
Genetics (3)
Retina (3)
Multidisciplinary Ophthalmic Imaging (1)
Visual Psychophysics and Physiological Optics (1)

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retinal cone (3)
mosaicism (2)
mutation (2)
opsin (2)
phenotype (2)
x-linked inheritance (2)
color vision defect (1)
pathophysiology (1)
personal integrity (1)
photoreceptors (1)

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ARVO Annual Meeting Abstract June 2024

A novel autosomal dominant Corneal Stromal Dystrophy associated with a SPARCL1 missense variant

Freddie L Braddock; Beatriz Sanchez Pintado; Anita Szabo; Nihar Bhattacharyya; Samanta Mitchell; Caroline Thaung; Jessica C Gardner; Alice E Davidson; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2167.

ARVO Annual Meeting Abstract June 2023

Investigation of OPN1LW and OPN1MW interchange haplotypes in retinal organoids from patients with blue cone monochromacy

Owen Fernando; Jessica C Gardner; Julio Cesar Corral Serrano; Michel Michaelides; Michael E Cheetham; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5072.

ARVO Annual Meeting Abstract June 2021

Macular rod and cone photoreceptor structure in patients with X-linked cone dysfunction

Emily J Patterson; Angelos Kalitzeos; Thomas Kane; Navjit Singh; Melissa Kasilian; Jessica C Gardner; Jay Neitz; Maureen Neitz; Alison J Hardcastle; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1879.

ARVO Annual Meeting Abstract June 2020

Longitudinal assessment of foveal cone structure in blue cone monochromacy

Emily J Patterson; Angelos Kalitzeos; Navjit Singh; Thomas Michael Kane; Melissa Kasilian; Brian P Higgins; Jessica C Gardner; Jay Neitz; Alison J Hardcastle; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5270.

ARVO Annual Meeting Abstract July 2019

Temporal resolution of alternative splicing in the developing human retina using 3D retinal organoids

Daniele Ottaviani; Amelia Lane; David A Parfitt; Katarina Jovanovic; Paul Edward Sladen; Jessica Clare Gardner; Alison J Hardcastle; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3333.

Retina August 2018

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

PDF

Emily J. Patterson; Angelos Kalitzeos; Melissa Kasilian; Jessica C. Gardner; Jay Neitz; Alison J. Hardcastle; Maureen Neitz; Joseph Carroll; Michel Michaelides
TAGS: mutation, opsin, retinal cone, x-linked inheritance
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4238-4248. https://doi.org/10.1167/iovs.18-24699

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

X-linked cone dystrophy and Blue Cone Monochromacy caused by novel and rare L/M opsin interchange haplotypes.

Jessica Clare Gardner; Petra Liskova; Jonathan Ruddle; Bohdan Kousal; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2325.

Visual Psychophysics and Physiological Optics July 2016

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

PDF

Emily J. Patterson; Melissa Wilk; Christopher S. Langlo; Melissa Kasilian; Michael Ring; Robert B. Hufnagel; Adam M. Dubis; James J. Tee; Angelos Kalitzeos; Jessica C. Gardner; Zubair M. Ahmed; Robert A. Sisk; Michael Larsen; Stacy Sjoberg; Thomas B. Connor; Alfredo Dubra; Jay Neitz; Alison J. Hardcastle; Maureen Neitz; Michel Michaelides; Joseph Carroll
TAGS: color vision defect, pathophysiology, retinal cone, x-linked inheritance, mosaicism, phenotype
Invest. Ophthalmol. Vis. Sci.. 2016; 57(8):3853-3863. https://doi.org/10.1167/iovs.16-19608

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Association of CHRDL1 Mutations with X-linked Megalocornea and Megalocornea-Mental Retardation (MMR) Syndrome

Sek Shir Cheong; Alice Davidson; Vincent Plagnol; Jonathan B Ruddle; Hala Ali; Jessica Clare Gardner; Jens M Hertz; Daniela T Pilz; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1002.

ARVO Annual Meeting Abstract April 2014

Genotype-Phenotype Comparison and Functional Investigation of Cone Opsin Variants

Jessica Clare Gardner; Gerald Liew; Yinghua Quan; Hisao Ueyama; Jan Liebelt; Jonathan B Ruddle; Anthony T Moore; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4543.

Multidisciplinary Ophthalmic Imaging December 2012

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic

PDF

Joseph Carroll; Alfredo Dubra; Jessica C. Gardner; Liliana Mizrahi-Meissonnier; Robert F. Cooper; Adam M. Dubis; Rick Nordgren; Mohamed Genead; Thomas B. Connor, Jr; Kimberly E. Stepien; Dror Sharon; David M. Hunt; Eyal Banin; Alison J. Hardcastle; Anthony T. Moore; David R. Williams; Gerald Fishman; Jay Neitz; Maureen Neitz; Michel Michaelides
TAGS: mosaicism, mutation, opsin, phenotype, photoreceptors, retinal cone, retina, personal integrity
Invest. Ophthalmol. Vis. Sci.. 2012; 53(13):8006-8015. https://doi.org/10.1167/iovs.12-11087

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

CHRDL1 Mutations Cause X-linked Megalocornea and Reveal an Unexpected Role for the Encoded Protein Ventroptin in Anterior Segment Development

Jessica C. Gardner; Tom R. Webb; Mar Matarin; Elias I. Traboulsi; Jane C. Sowden; Michel Michaelides; Sanjay M. Sisodiya; David A. Mackey; Stephen J. Tuft; Alison J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2254.

ARVO Annual Meeting Abstract March 2012

A Targeted Next-Generation Sequencing Approach for Identification of the X-linked RP23 Gene

David A. Parfitt; Tom R. Webb; Jessica C. Gardner; Jacob Ressa; Marina Apergi; Naheed Kanuga; Ariadna Martinez; Michael E. Cheetham; Michael B. Gorin; Alison J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1209.

ARVO Annual Meeting Abstract April 2011

Mutation Analysis Of The OPN1LW And OPN1MW Cone Opsin Genes In A Cohort Of British Families With Blue Cone Monochromacy

Alison J. Hardcastle; Jessica C. Gardner; Yinghua Quan; Andrew Stockman; Graham E. Holder; Naheed Kanuga; Tom R. Webb; Anthony T. Moore; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5386.

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