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Journal Articles (8)

Journal

Investigative Ophthalmology & Visual Science (8)

Article Type

Cornea (2)
Glaucoma (2)
Lens (2)
Biochemistry and Molecular Biology (1)
Retina (1)

Topics

Genetics (8)
Eye Anatomy and Disorders (6)
Cornea (2)
Glaucoma (2)
Lens (2)
Biochemistry and Molecular Biology (1)
Imaging (1)
Retina (1)
Retinal Imaging (1)
Surgery (1)

Tags

mutation (6)
exons (3)
cataract (2)
genes (2)
phenotype (2)
alleles (1)
amino acid substitution (1)
amplification (1)
cataract, nuclear (1)
child (1)

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Retina March 2007

Assessment of Central Retinal Function in Patients with Advanced Retinitis Pigmentosa

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Christina Gerth; Tom Wright; Elise Héon; Carol A. Westall
TAGS: electroretinography, noise, retinitis pigmentosa, vision, visual fields
Invest. Ophthalmol. Vis. Sci.. 2007; 48(3):1312-1318. https://doi.org/10.1167/iovs.06-0630

Cornea February 2006

Structural Abnormalities of the Cornea and Lid Resulting from Collagen V Mutations

PDF

Fani Segev; Elise Héon; William G. Cole; Richard J. Wenstrup; Felix Young; Allan R. Slomovic; David S. Rootman; Diana Whitaker-Menezes; Inna Chervoneva; David E. Birk
TAGS: collagen, collagen type v, cornea, mice, mutation, fibril
Invest. Ophthalmol. Vis. Sci.. 2006; 47(2):565-573. https://doi.org/10.1167/iovs.05-0771

Glaucoma September 2004

Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma

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Colin E. Willoughby; Louie Loh Yen Chan; Sarah Herd; Gail Billingsley; Nima Noordeh; Alex V. Levin; Yvonne Buys; Graham Trope; Mansoor Sarfarazi; Elise Héon
TAGS: child, open-angle glaucoma, optn gene, pathogenicity, exons, myoc gene, mutation, glaucoma
Invest. Ophthalmol. Vis. Sci.. 2004; 45(9):3122-3130. https://doi.org/10.1167/iovs.04-0107

Lens May 2004

CRYBA3/A1 Gene Mutation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract: A Novel Phenotype

PDF

Walter Ferrini; Daniel F. Schorderet; Philippe Othenin-Girard; Sylvie Uffer; Elise Héon; Francis L. Munier
TAGS: cataract, nuclear, mutation, phenotype, sutures, genetic linkage analysis, lens (device), cataract, exons, crystallins, genes
Invest. Ophthalmol. Vis. Sci.. 2004; 45(5):1436-1441. https://doi.org/10.1167/iovs.03-0760

Glaucoma March 2004

Characterization and Prevalence of PITX2 Microdeletions and Mutations in Axenfeld-Rieger Malformations

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Matthew A. Lines; Kathy Kozlowski; Stephen C. Kulak; R. Rand Allingham; Elise Héon; Robert Ritch; Alex V. Levin; M. Bruce Shields; Karim F. Damji; Anna Newlin; Michael A. Walter
TAGS: congenital abnormality, mutation, prevalence
Invest. Ophthalmol. Vis. Sci.. 2004; 45(3):828-833. https://doi.org/10.1167/iovs.03-0309

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Cornea April 2002

BIGH3 Mutation Spectrum in Corneal Dystrophies

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Francis L. Munier; Beatrice E. Frueh; Philippe Othenin-Girard; Sylvie Uffer; Pascal Cousin; Ming X. Wang; Elise Héon; Graeme C. M. Black; Maria A. Blasi; Emilio Balestrazzi; Birgit Lorenz; Rafael Escoto; Rafael Barraquer; Maria Hoeltzenbein; Balder Gloor; Maurizio Fossarello; Arun D. Singh; Yvan Arsenijevic; Léonidas Zografos; Daniel F. Schorderet
TAGS: hereditary corneal dystrophy, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2002; 43(4):949-954.

Biochemistry and Molecular Biology May 2001

An Analysis of Allelic Variation in the ABCA4 Gene

PDF

Andrew R. Webster; Elise Héon; Andrew J. Lotery; Kimberlie Vandenburgh; Thomas L. Casavant; Kean T. Oh; Gretel Beck; Gerald A. Fishman; Byron L. Lam; Alex Levin; John R. Heckenlively; Samuel G. Jacobson; Richard G. Weleber; Val C. Sheffield; Edwin M. Stone
TAGS: alleles, genes, nucleotides, stargardt's disease, proteins, amino acid substitution, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2001; 42(6):1179-1189.

Lens January 2000

Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

PDF

Dan Gill; Robert Klose; Francis L. Munier; Michelle McFadden; Megan Priston; Gail Billingsley; Nicolas Ducrey; Daniel F. Schorderet; Elise Héon
TAGS: cataract, chromosomes, exons, genetic heterogeneity, mutation, amplification
Invest. Ophthalmol. Vis. Sci.. 2000; 41(1):159-165.

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Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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