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Meeting Abstract (5)
Journal Articles (4)

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Investigative Ophthalmology & Visual Science (9)

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ARVO Annual Meeting Abstract (5)
Biochemistry and Molecular Biology (2)
Genetics (1)
Retina (1)

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Genetics (4)
Biochemistry and Molecular Biology (2)
Eye Anatomy and Disorders (1)
Retina (1)

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exons (3)
mutation (3)
retinitis pigmentosa (3)
autosomal recessive inheritance (2)
family (2)
genes (2)
genome (2)
protein isoforms (2)
proteins (2)
retina (2)

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ARVO Annual Meeting Abstract June 2023

High efficiency in genome editing of pathogenic variants causing Inherited Retinal Dystrophies: the importance of CRISPR/TALEN guides and repair templates designs

Laura Siles; Sheila Ruiz-Nogales; Arnau Navinés-Ferrer; Paula Gaudó Pardo; Esther Pomares

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):759.

ARVO Annual Meeting Abstract June 2023

Three iPSC-derived cell models for the study of Stargardt Disease and Retinitis Pigmentosa.

Arnau Navinés Ferrer; Pilar Méndez Vendrell; Laura Siles; Paula Gaudó Pardo; Esther Pomares

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5070.

ARVO Annual Meeting Abstract June 2023

Generation of retinal models from two iPSC lines derived from patients harboring mutations in PDE6A and PDE6C genes.

Paula Gaudó Pardo; Arnau Navinés-Ferrer; Pilar Méndez Vendrell; Laura Siles; Esther Pomares

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3195.

ARVO Annual Meeting Abstract June 2017

Ion Proton system enables reliable genetic diagnosis and improves mutation detection rate of inherited retinal dystrophies

Marina Riera; Rafael Navarro; Sheila Ruiz-Nogales; Pilar Mendez; Anniken Bures-Jelstrup; Borja Corcostegui; Esther Pomares

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2757.

Genetics January 2012

Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families

PDF

Esther Pomares; Anniken Burés-Jelstrup; Sheila Ruiz-Nogales; Borja Corcóstegui; Roser González-Duarte; Rafael Navarro
TAGS: autosomal recessive inheritance, family, mutation, reverse transcriptase polymerase chain reaction, phenotype, rna, messenger, codon, nonsense, electroretinography, homozygote, relationship - sibling
Invest. Ophthalmol. Vis. Sci.. 2012; 53(1):532-537. https://doi.org/10.1167/iovs.11-7964

Includes: Supplemental Content

Biochemistry and Molecular Biology July 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

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Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Florentina Sava; Josep F. Abril; Gemma Marfany; Roser Gonzàlez-Duarte
TAGS: exons, genes, mice, protein isoforms, retina, retinitis pigmentosa, transcription, genetic, body tissue, genome, proteins
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5202-5214. https://doi.org/10.1167/iovs.10-7101

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

Gemma Marfany; Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Josep F. Abril; Roser Gonzalez-Duarte

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5404.

Retina May 2010

Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1

PDF

Jon Permanyer; Rafael Navarro; James Friedman; Esther Pomares; Joaquín Castro-Navarro; Gemma Marfany; Anand Swaroop; Roser Gonzàlez-Duarte
TAGS: autosomal recessive inheritance, mutation, protein isoforms, retina, retinitis pigmentosa, family, genome, genes, screening, reverse transcriptase polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2010; 51(5):2656-2663. https://doi.org/10.1167/iovs.09-4857

Biochemistry and Molecular Biology November 2009

Identification of an Intronic Single-Point Mutation in RP2 as the Cause of Semidominant X-linked Retinitis Pigmentosa

PDF

Esther Pomares; Marina Riera; Joaquín Castro-Navarro; Ángeles Andrés-Gutiérrez; Roser Gonzàlez-Duarte; Gemma Marfany
TAGS: introns, mutation, retinitis pigmentosa, x-linked inheritance, exons, rna splicing
Invest. Ophthalmol. Vis. Sci.. 2009; 50(11):5107-5114. https://doi.org/10.1167/iovs.08-3208

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Online ISSN: 1552-5783

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

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