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 (8)
Meeting Abstract (2)

Journal

Investigative Ophthalmology & Visual Science (10)

Article Type

Retina (4)
ARVO Annual Meeting Abstract (2)
Genetics (2)
Biochemistry and Molecular Biology (1)
Clinical and Epidemiologic Research (1)

Topics

Genetics (8)
Retina (6)
Eye Anatomy and Disorders (3)
Biochemistry and Molecular Biology (1)
Clinical and Epidemiologic Research (1)

Tags

mutation (8)
genes (7)
family (6)
spanish (6)
phenotype (2)
retinal dystrophies (2)
retinitis pigmentosa (2)
alleles (1)
autosomal recessive inheritance (1)
cohort studies (1)

Specify Date Range

From: To: Apply

Showing 1 – 10 of 10

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2015

Whole-exome sequencing in patients with STGD ( ABCA4 )-like phenotypes

Yajing Xie; Winston Lee; Stephen H Tsang; Gerald A Fishman; Frederick T Collison; Rosa Riveiro-Alvarez; Carmen Ayuso; Tomasz Gambin; James R. Lupski; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2863. doi:

Genetics April 2015

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

PDF

Patricia Fernandez-San Jose; Marta Corton; Fiona Blanco-Kelly; Almudena Avila-Fernandez; Miguel Angel Lopez-Martinez; Iker Sanchez-Navarro; Rocio Sanchez-Alcudia; Raquel Perez-Carro; Olga Zurita; Noelia Sanchez-Bolivar; Maria Isabel Lopez-Molina; Blanca Garcia-Sandoval; Rosa Riveiro-Alvarez; Carmen Ayuso
TAGS: mutation, family, genes, retinitis pigmentosa, massively-parallel genome sequencing, spanish
Invest. Ophthalmol. Vis. Sci.. 2015; 56(4):2173-2182. doi: 10.1167/iovs.14-16178

Includes: Supplemental Content

Genetics November 2014

Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity in a Large Cohort of Spanish Retinal Dystrophies Families

PDF

Rocío Sánchez-Alcudia; Marta Cortón; Almudena Ávila-Fernández; Olga Zurita; Sorina D. Tatu; Raquel Pérez-Carro; Patricia Fernandez-San Jose; Miguel Ángel Lopez-Martinez; Francisco J. del Castillo; Jose M. Millan; Fiona Blanco-Kelly; Blanca García-Sandoval; Maria Isabel Lopez-Molina; Rosa Riveiro-Alvarez; Carmen Ayuso
TAGS: phenotype, mutation, cohort studies, family, genes, genetic heterogeneity, spanish, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7562-7571. doi: 10.1167/iovs.14-14938

ARVO Annual Meeting Abstract March 2012

Exome Sequencing In Individual Patients With Recessive Retinal Degeneration As A Tool For Mutation And Disease Gene Discovery

Paola Benaglio; Koji M. Nishiguchi; Marta Corton; Almudena Avila-Fernandez; Rosa Riveiro-Alvarez; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4519. doi:

Clinical and Epidemiologic Research August 2011

Further Associations between Mutations and Polymorphisms in the ABCA4 Gene: Clinical Implication of Allelic Variants and Their Role as Protector/Risk Factors

PDF

Jana Aguirre-Lamban; Juan José González-Aguilera; Rosa Riveiro-Alvarez; Diego Cantalapiedra; Almudena Avila-Fernandez; Cristina Villaverde-Montero; Marta Corton; Fiona Blanco-Kelly; Blanca Garcia-Sandoval; Carmen Ayuso
TAGS: mutation, polymorphism, genes, risk factors
Invest. Ophthalmol. Vis. Sci.. 2011; 52(9):6206-6212. doi: 10.1167/iovs.10-5743

Retina May 2010

Comparison of High-Resolution Melting Analysis with Denaturing High-Performance Liquid Chromatography for Mutation Scanning in the ABCA4 Gene

PDF

Jana Aguirre-Lamban; Rosa Riveiro-Alvarez; Maria Garcia-Hoyos; Diego Cantalapiedra; Almudena Avila-Fernandez; Cristina Villaverde-Montero; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
TAGS: mutation, liquid chromatography, exons, genes, high-resolution melt curve analysis
Invest. Ophthalmol. Vis. Sci.. 2010; 51(5):2615-2619. doi: 10.1167/iovs.09-4518

Retina September 2009

Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

PDF

Rosa Riveiro-Alvarez; Maria-Jose Trujillo-Tiebas; Ascension Gimenez-Pardo; Maria Garcia-Hoyos; Miguel-Angel Lopez-Martinez; Jana Aguirre-Lamban; Blanca Garcia-Sandoval; Silvia Vazquez-Fernandez del Pozo; Diego Cantalapiedra; Almudena Avila-Fernandez; Montserrat Baiget; Carmen Ramos; Carmen Ayuso
TAGS: mutation, exanthema, family, genes, haplotypes, eye, genetics, x-linked retinoschisis, spanish
Invest. Ophthalmol. Vis. Sci.. 2009; 50(9):4342-4350. doi: 10.1167/iovs.09-3418

Retina June 2008

CERKL Mutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa

PDF

Almudena Avila-Fernandez; Rosa Riveiro-Alvarez; Elena Vallespin; Robert Wilke; Ignacio Tapias; Diego Cantalapiedra; Jana Aguirre-Lamban; Ascension Gimenez; Maria-Jose Trujillo-Tiebas; Carmen Ayuso
TAGS: phenotype, mutation, family, genes, retinitis pigmentosa, autosomal recessive inheritance, spanish
Invest. Ophthalmol. Vis. Sci.. 2008; 49(6):2709-2713. doi: 10.1167/iovs.07-0865

Retina December 2007

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

PDF

Elena Vallespin; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Robert Wilke; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Miguel Angel Lopez-Martinez; Ascension Gimenez; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
TAGS: mutation, family, screening, leber's amaurosis, genotype determination, spanish, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5653-5661. doi: 10.1167/iovs.07-0007

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: alleles, mutation, family, genes, retinal diseases, spanish
Invest. Ophthalmol. Vis. Sci.. 2007; 48(3):985-990. doi: 10.1167/iovs.06-0307

« 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