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Journal Articles (8)
Meeting Abstract (3)

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Investigative Ophthalmology & Visual Science (11)

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Retina (4)
ARVO Annual Meeting Abstract (3)
Genetics (2)
Biochemistry and Molecular Biology (1)
Clinical and Epidemiologic Research (1)

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

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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)

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ARVO Annual Meeting Abstract July 2019

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

Marta del Pozo Valero; Inmaculada Martin Merida; Belen Jimenez Rolando; Ana Arteche; Almudena Avila Fernandez; Fiona Blanco Kelly; Rosa Riveiro Alvarez; Caroline Van Cauwenbergh; Elfride De Baere; Carlo Rivolta; Blanca Garcia Sandoval; Marta Corton; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4926. doi:

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

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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: family, massively-parallel genome sequencing, mutation, retinitis pigmentosa, spanish, genes
Invest. Ophthalmol. Vis. Sci.. 2015; 56(4):2173-2182. doi: https://doi.org/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

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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: cohort studies, family, genes, genetic heterogeneity, mutation, retinal dystrophies, spanish, phenotype
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7562-7571. doi: https://doi.org/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

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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, risk factors, genes
Invest. Ophthalmol. Vis. Sci.. 2011; 52(9):6206-6212. doi: https://doi.org/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

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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: genes, high-resolution melt curve analysis, liquid chromatography, mutation, exons
Invest. Ophthalmol. Vis. Sci.. 2010; 51(5):2615-2619. doi: https://doi.org/10.1167/iovs.09-4518

Retina September 2009

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

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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: family, genetics, haplotypes, mutation, spanish, x-linked retinoschisis, exanthema, eye, genes
Invest. Ophthalmol. Vis. Sci.. 2009; 50(9):4342-4350. doi: https://doi.org/10.1167/iovs.09-3418

Retina June 2008

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

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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: autosomal recessive inheritance, family, mutation, phenotype, retinitis pigmentosa, spanish, genes
Invest. Ophthalmol. Vis. Sci.. 2008; 49(6):2709-2713. doi: https://doi.org/10.1167/iovs.07-0865

Retina December 2007

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

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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: family, genotype determination, leber's amaurosis, mutation, spanish, retinal dystrophies, screening
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5653-5661. doi: https://doi.org/10.1167/iovs.07-0007

Biochemistry and Molecular Biology March 2007

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

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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

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Online ISSN: 1552-5783

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

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