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Meeting Abstract (4)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (7)

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ARVO Annual Meeting Abstract (4)
Genetics (3)

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Genetics (3)
Eye Anatomy and Disorders (1)

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family (3)
genes (3)
mutation (3)
spanish (3)
cohort studies (2)
massively-parallel genome sequencing (2)
retinitis pigmentosa (2)
abca4 gene (1)
choroidal neovascularization (1)
copy number polymorphism (1)

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ARVO Annual Meeting Abstract June 2023

Prevalence and phenotype-genotype correlation of the c.5603A>T, (p.Asn1868Ile) hypomorphic variant in a large cohort with genetically confirmed ABCA4 retinopathy

Maria Pilar Martin Gutierrez; Inmaculada Martin-Merida; Marta Del Pozo Valero; Lidia Fernandez-Caballero; Ester Carreno; Belen Jimenez-Rolando; Blanca Garcia-Sandoval; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4510.

ARVO Annual Meeting Abstract June 2023

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

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

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.

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.

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. 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. 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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