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Journal Articles (8)
Meeting Abstract (2)

Journal

Investigative Ophthalmology & Visual Science (10)

Article Type

Genetics (7)
ARVO Annual Meeting Abstract (2)
Clinical and Epidemiologic Research (1)

Topics

Genetics (8)
Eye Anatomy and Disorders (3)
Retina (2)
Clinical and Epidemiologic Research (1)
Imaging (1)

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genes (7)
mutation (7)
family (6)
spanish (5)
cohort studies (3)
massively-parallel genome sequencing (3)
retinitis pigmentosa (3)
genetics (2)
phenotype (2)
retinal dystrophies (2)

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Genetics February 2022

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

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Marta Del Pozo-Valero; Rosa Riveiro-Alvarez; Inmaculada Martin-Merida; Fiona Blanco-Kelly; Saoud Swafiri; Isabel Lorda-Sanchez; Maria José Trujillo-Tiebas; Ester Carreño; Belen Jimenez-Rolando; Blanca Garcia-Sandoval; Marta Corton; Almudena Avila-Fernandez; Carmen Ayuso
TAGS: abca4 gene, family, genes, genetics, high-throughput nucleotide sequencing, macular dystrophy, massively-parallel genome sequencing, spanish, mutation
Invest. Ophthalmol. Vis. Sci.. 2022; 63(2):11. https://doi.org/10.1167/iovs.63.2.11

Includes: Supplemental Content

Genetics April 2020

Retinal Structure in RPE65 -Associated Retinal Dystrophy

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Neruban Kumaran; Michalis Georgiou; James W. B. Bainbridge; Mette Bertelsen; Michael Larsen; Fiona Blanco-Kelly; Carmen Ayuso; Hoai Viet Tran; Francis L. Munier; Angelos Kalitzeos; Michel Michaelides
TAGS: retina, retinal dystrophies, rpe65 protein, spectral domain-optical coherence tomography, eye, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):47. https://doi.org/10.1167/iovs.61.4.47

Includes: Supplemental Content

Genetics November 2019

Expanding the Genetic Landscape of Usher-Like Phenotypes

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Carla Fuster-García; Gema García-García; Teresa Jaijo; Fiona Blanco-Kelly; Lifeng Tian; Hakon Hakonarson; Carmen Ayuso; Elena Aller; José M. Millán
TAGS: family, genetics, phenotype, genes, mutation, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2019; 60(14):4701-4710. https://doi.org/10.1167/iovs.19-27470

Includes: Supplemental Content

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.

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. 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. https://doi.org/10.1167/iovs.16-20515

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Albinism in Spain: Current genetic picture

Maria Isabel Lopez Molina; Blanco-Kelly Fiona; Martinez Garcia Monica; Ayuso Carmen; Corton Marta; Trujillo-Tiebas Maria Jose

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6580.

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

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: cohort studies, family, genes, genetic heterogeneity, mutation, retinal dystrophies, spanish, phenotype
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7562-7571. https://doi.org/10.1167/iovs.14-14938

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, risk factors, genes
Invest. Ophthalmol. Vis. Sci.. 2011; 52(9):6206-6212. https://doi.org/10.1167/iovs.10-5743

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Online ISSN: 1552-5783

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

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