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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:

Genetics May 2018

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

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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

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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 September 2016

Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.

Katarina Cisarova; Nicola Bedoni; Rocio Sanchez-Alcudia; Beryl Royer-Bertrand; Almudena Avila-Fernandez; Marta Corton; Olga Zurita; Sara Balzano; Konstantinos Nikopoulos; Ayuso Carmen; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):673. doi:

ARVO Annual Meeting Abstract June 2015

Identification of a novel mutation in the mevalonate kinase gene associated with retinitis pigmentosa

Jia Li; Beryl Royer-Bertrand; Konstantinos Nikopoulos; Almudena Avila-Fernandez; Marta Corton; Rocio Sanchez-Alcudia; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1097. doi:

ARVO Annual Meeting Abstract June 2015

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Konstantinos Nikopoulos; Almudena Avila-Fernandez; Marta Corton; Maria Isabel Lopez-Molina; Raquel Perez-Carro; Olga Zurita; Blanca Garcia-Sandoval; Carlo Rivolta; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1098. 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

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

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New insights into the phenotypic spectrum of PROM1 -associated retinopathy

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

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

Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.

Identification of a novel mutation in the mevalonate kinase gene associated with retinitis pigmentosa

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

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

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

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

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

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

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

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

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