Items where Author is "Ayuso, Carmen"

2021

Perea-Romero, Irene and Gordo, Gema and Iancu, Ionut F. and Del Pozo-Valero, Marta and Almoguera, Berta and Blanco-Kelly, Fiona and Carreño, Ester and Jimenez-Rolando, Belen and Lopez-Rodriguez, Rosario and Lorda-Sanchez, Isabel and Martin-Merida, Inmaculada and Pérez de Ayala, Lucia and Riveiro-Alvarez, Rosa and Rodriguez-Pinilla, Elvira and Tahsin-Swafiri, Saoud and Trujillo-Tiebas, Maria J. and Esretnet Study Group, and Erdc Study Group, and Associated Clinical Study Group, and Garcia-Sandoval, Blanca and Minguez, Pablo and Avila-Fernandez, Almudena and Corton, Marta and Ayuso, Carmen. (2021) Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports, 11 (1). p. 1526.

2020

Bedoni, Nicola and Quinodoz, Mathieu and Pinelli, Michele and Cappuccio, Gerarda and Torella, Annalaura and Nigro, Vincenzo and Testa, Francesco and Simonelli, Francesca and Telethon Undiagnosed Disease Programm, and Corton, Marta and Lualdi, Susanna and Lanza, Federica and Morana, Giovanni and Ayuso, Carmen and Di Rocco, Maja and Filocamo, Mirella and Banfi, Sandro and Brunetti-Pierri, Nicola and Superti-Furga, Andrea and Rivolta, Carlo. (2020) An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Human molecular genetics, 29 (13). pp. 2250-2260.

Del Pozo-Valero, Marta and Riveiro-Alvarez, Rosa and Blanco-Kelly, Fiona and Aguirre-Lamban, Jana and Martin-Merida, Inmaculada and Iancu, Ionut-Florin and Swafiri, Saoud and Lorda-Sanchez, Isabel and Rodriguez-Pinilla, Elvira and Trujillo-Tiebas, Maria José and Jimenez-Rolando, Belen and Carreño, Ester and Mahillo-Fernandez, Ignacio and Rivolta, Carlo and Corton, Marta and Avila-Fernandez, Almudena and Garcia-Sandoval, Blanca and Ayuso, Carmen. (2020) Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. American journal of ophthalmology, 219. pp. 195-204.

2019

Del Pozo-Valero, Marta and Martin-Merida, Inmaculada and Jimenez-Rolando, Belen and Arteche, Ana and Avila-Fernandez, Almudena and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Van Cauwenbergh, Caroline and De Baere, Elfride and Rivolta, Carlo and Garcia-Sandoval, Blanca and Corton, Marta and Ayuso, Carmen. (2019) Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1. American journal of ophthalmology, 207. pp. 204-214.

2016

Sanchez-Alcudia, Rocio and Garcia-Hoyos, Maria and Lopez-Martinez, Miguel Angel and Sanchez-Bolivar, Noelia and Zurita, Olga and Gimenez, Ascension and Villaverde, Cristina and Rodrigues-Jacy da Silva, Luciana and Corton, Marta and Perez-Carro, Raquel and Torriano, Simona and Kalatzis, Vasiliki and Rivolta, Carlo and Avila-Fernandez, Almudena and Lorda, Isabel and Trujillo-Tiebas, Maria J. and Garcia-Sandoval, Blanca and Lopez-Molina, Maria Isabel and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Ayuso, Carmen. (2016) A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. PLoS ONE, 11 (4). e0151943.

2015

Nikopoulos, Konstantinos and Avila-Fernandez, Almudena and Corton, Marta and Lopez-Molina, Maria Isabel and Perez-Carro, Raquel and Bontadelli, Lara and Di Gioia, Silvio Alessandro and Zurita, Olga and Garcia-Sandoval, Blanca and Rivolta, Carlo and Ayuso, Carmen. (2015) Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. Scientific Reports, 5. p. 13902.

2014

Nishiguchi, Koji M. and Avila-Fernandez, Almudena and van Huet, Ramon A. C. and Corton, Marta and Pérez-Carro, Raquel and Martín-Garrido, Esther and López-Molina, María Isabel and Blanco-Kelly, Fiona and Hoefsloot, Lies H. and van Zelst-Stams, Wendy A. and García-Ruiz, Pedro J. and Del Val, Javier and Di Gioia, Silvio Alessandro and Klevering, B. Jeroen and van de Warrenburg, Bart P. C. and Vazquez, Carlos and Cremers, Frans P. M. and García-Sandoval, Blanca and Hoyng, Carel B. and Collin, Rob W. J. and Rivolta, Carlo and Ayuso, Carmen. (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology, 121 (8). pp. 1620-1627.

Benaglio, Paola and San Jose, Patricia Fernandez and Avila-Fernandez, Almudena and Ascari, Giulia and Harper, Shyana and Manes, Gaël and Ayuso, Carmen and Hamel, Christian and Berson, Eliot L. and Rivolta, Carlo. (2014) Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision, 20. pp. 843-851.

2013

Corton, Marta and Nishiguchi, Koji M. and Avila-Fernández, Almudena and Nikopoulos, Konstantinos and Riveiro-Alvarez, Rosa and Tatu, Sorina D. and Ayuso, Carmen and Rivolta, Carlo. (2013) Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS ONE, 8 (6). e65574.

2012

Avila-Fernandez, Almudena and Corton, Marta and Nishiguchi, Koji M. and Muñoz-Sanz, Nelida and Benavides-Mori, Belen and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Garcia-Sandoval, Blanca and Rivolta, Carlo and Ayuso, Carmen. (2012) Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. Ophthalmology, 119 (12). pp. 2616-2621.

2011

Tanackovic, Goranka and Ransijn, Adriana and Ayuso, Carmen and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics, 88 (5). pp. 643-649.