Publications by authors named "Belen Jimenez-Rolando"

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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, Fadi Nasser, Michael J Gale, Belen Jimenez-Rolando

Am J Ophthalmol· October 2025

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-associated retinopathy: genotype-phenotype correlations - study group report 3.
Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent

Br J Ophthalmol· July 2024

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-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Belen Jimenez-Rolando

Int J Mol Sci· March 2024

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Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez

Am J Ophthalmol· October 2023

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Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Natalia Lorenzana-Blanco, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Fiona Blanco-Kelly, Almudena Avila-Fernandez

Eur J Ophthalmol· November 2022

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Belen Jimenez-Rolando

NPJ Genom Med· July 2022

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, Fiona Blanco-Kelly, Saoud Swafiri, Belen Jimenez-Rolando

Invest Ophthalmol Vis Sci· February 2022

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Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Lilián Galbis-Martínez, Fiona Blanco-Kelly, Gema García-García, Almudena Ávila-Fernández, Teresa Jaijo, Belén Jimenez-Rolando

Acta Ophthalmol· December 2021

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RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Rosario Lopez-Rodriguez, Esther Lantero, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin Merida

Exp Eye Res· November 2021

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KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Belen Jimenez-Rolando

Am J Ophthalmol· October 2021

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KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Shaun M Leo, Ajoy Vincent, Belen Jimenez-Rolando

Am J Ophthalmol· May 2021

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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Irene Perea-Romero, Gema Gordo, Ionut F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Belen Jimenez-Rolando

Sci Rep· May 2021

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Multicolor Imaging for the Detection of Inner Nuclear Layer Microcysts Secondary to Optic Nerve Atrophy.
Belen Jimenez-Rolando, Ester Carreño, Miguel A Alonso-Peralta, Maria I Lopez-Molina, Guillermo Fernandez-Sanz

J Neuroophthalmol· March 2021

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Irene Perea-Romero, Gema Gordo, Ionut F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Belen Jimenez-Rolando

Sci Rep· January 2021

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Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, Jana Aguirre-Lamban, Inmaculada Martin-Merida, Belen Jimenez-Rolando

Am J Ophthalmol· November 2020

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Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, Ana Arteche, Almudena Avila-Fernandez

Am J Ophthalmol· November 2019

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A large study reveals no association between APOE and Parkinson's disease.
Monica Federoff, Belen Jimenez-Rolando, Michael A Nalls, Andrew B Singleton

Neurobiol Dis· May 2012

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