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Journal Articles (2)
Meeting Abstract (2)

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Investigative Ophthalmology & Visual Science (4)

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ARVO Annual Meeting Abstract (2)
Genetics (2)

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Genetics (2)
Eye Anatomy and Disorders (1)

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cohort studies (2)
family (2)
genes (2)
mutation (2)
retinitis pigmentosa (2)
spanish (2)
choroidal neovascularization (1)
copy number polymorphism (1)
gene rearrangement (1)
genetic analysis (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 July 2018

A rare chromosomal rearrangement in the X-linked opsin gene array is associated with retinal degeneration

Atta Ur Rehman; Quy Ai Ngo; Inmaculada Martin-Merida; Blanca Garcia-Sandoval; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5407. 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

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Online ISSN: 1552-5783

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

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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