Search | IOVS | ARVO Journals

iovs

Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Journals Home

SIGN IN

Forgot password?

Create an Account

To View More...

Purchase this article with an account.

or

Subscribe Now

Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Narrow View

NARROW

Content Type

Journal Articles (5)
Meeting Abstract (2)

Journal

Investigative Ophthalmology & Visual Science (7)

Article Type

Genetics (3)
ARVO Annual Meeting Abstract (2)
Biochemistry and Molecular Biology (1)
Retina (1)

Topics

Genetics (5)
Eye Anatomy and Disorders (2)
Retina (2)
Biochemistry and Molecular Biology (1)

Tags

mutation (5)
family (4)
genes (4)
retinitis pigmentosa (4)
spanish (4)
cohort studies (2)
rna splicing (2)
alleles (1)
choroidal neovascularization (1)
copy number polymorphism (1)

Specify Date Range

From: To: Apply

Showing 1 – 7 of 7

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract July 2018

Pharmacogenetics of the Spanish Multicenter Genetic Glaucoma Group

Elena Milla; Susana Duch; Maria Jose Gamundi; Miguel Carballo

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5150. doi:

Genetics May 2018

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

PDF

Inmaculada Martin-Merida; Domingo Aguilera-Garcia; Patricia Fernandez-San Jose; Fiona Blanco-Kelly; Olga Zurita; Berta Almoguera; Blanca Garcia-Sandoval; Almudena Avila-Fernandez; Ana Arteche; Pablo Minguez; Miguel Carballo; Marta Corton; Carmen Ayuso
TAGS: cohort studies, family, genes, genetic analysis, massively-parallel genome sequencing, retinitis pigmentosa, spanish, copy number polymorphism, mutation, choroidal neovascularization
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2345-2354. doi: https://doi.org/10.1167/iovs.18-23854

Includes: Supplemental Content

Genetics February 2017

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

PDF

Inmaculada Martin-Merida; Rocio Sanchez-Alcudia; Patricia Fernandez-San Jose; Fiona Blanco-Kelly; Raquel Perez-Carro; Luciana Rodriguez-Jacy da Silva; Berta Almoguera; Blanca Garcia-Sandoval; Maria Isabel Lopez-Molina; Almudena Avila-Fernandez; Miguel Carballo; Marta Corton; Carmen Ayuso
TAGS: family, gene rearrangement, genes, mutation, retinitis pigmentosa, spanish, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):1045-1053. doi: https://doi.org/10.1167/iovs.16-20515

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2013

Last results of the Spanish Multicenter Genetic Glaucoma Group

Elena Milla; Susana Duch; Miguel Carballo; Maria Jose Gamundi

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):6218. doi:

Genetics May 2011

Cellular Expression and siRNA-Mediated Interference of Rhodopsin cis -Acting Splicing Mutants Associated with Autosomal Dominant Retinitis Pigmentosa

PDF

Imma Hernan; María José Gamundi; Ester Planas; Emma Borràs; Miquel Maseras; Miguel Carballo
TAGS: proteins, retinitis pigmentosa, rhodopsin, rna splicing, rna, small interfering, mutation, rna, messenger
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):3723-3729. doi: https://doi.org/10.1167/iovs.10-6933

Biochemistry and Molecular Biology March 2007

Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients

PDF

Diana Valverde; Rosa Riveiro-Alvarez; Jana Aguirre-Lamban; Montserrat Baiget; Miguel Carballo; Guillermo Antiñolo; José Maria Millán; Blanca Garcia Sandoval; Carmen Ayuso
TAGS: family, mutation, retinal diseases, spanish, alleles, genes
Invest. Ophthalmol. Vis. Sci.. 2007; 48(3):985-990. doi: https://doi.org/10.1167/iovs.06-0307

Retina May 2003

Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3 , PRPF8 , and PRPF31 in Spanish Families with Autosomal Dominant Retinitis Pigmentosa

PDF

María Martínez-Gimeno; María José Gamundi; Imma Hernan; Miquel Maseras; Elena Millá; Carmen Ayuso; Blanca García-Sandoval; Magdalena Beneyto; Concha Vilela; Montserrat Baiget; Guillermo Antiñolo; Miguel Carballo
TAGS: family, genes, heterogeneous nuclear rna, mutation, retinitis pigmentosa, rna splicing, spanish
Invest. Ophthalmol. Vis. Sci.. 2003; 44(5):2171-2177. doi: https://doi.org/10.1167/iovs.02-0871

« Previous

Advertisement

Follow @ARVOiovs

IOVS Home
Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Online ISSN: 1552-5783

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

JOURNALS HOME
TOPICS
ABOUT ARVO JOURNALS

Copyright © 2015 Association for Research in Vision and Ophthalmology.

Forgot password?

To View More...

Purchase this article with an account.

Create an Account

or

Subscribe Now

×

×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept