Resultados de búsqueda - Rosa Riveiro-Álvarez

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  1. 1
    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis por Marta Cortón, Koji M. Nishiguchi, Almudena Ávila‐Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Álvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

    Publicado 2013
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  2. 2
    High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

    High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population por Marta Cortón, Sorina D. Tatu, Almudena Ávila‐Fernández, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco‐Kelly, Rosa Riveiro-Álvarez, Sara Bernal, Blanca García‐Sandoval, Montserrat Baiget, Carmen Ayuso

    Publicado 2013
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  3. 3
    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders por Francisco Martínez‐Granero, Fiona Blanco‐Kelly, C. Sánchez-Jimeno, Almudena Ávila‐Fernández, Ana Arteche‐López, Ana Bustamante‐Aragonés, Cristina Rodilla, Elvira Rodríguez‐Pinilla, Rosa Riveiro-Álvarez, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda‐Sánchez, Berta Almoguera

    Publicado 2021
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  4. 4
    Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

    Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies por Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Jana Zernant, Jana Aguirre-Lambán, Diego Cantalapiedra, Almudena Ávila‐Fernández, Ascensión Giménez, María-Isabel López-Molina, Blanca García‐Sandoval, Fiona Blanco‐Kelly, Marta Cortón, Sorina D. Tatu, Patrícia José, M J Trujillo-Tiebas, Carmen Ramos, Rando Allikmets, Carmen Ayuso

    Publicado 2013
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  5. 5
    Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

    Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa por Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro, Olga Zurita, Noelia Sanchez-Bolivar, Rocío Sánchez-Alcudia, Stefan H. Lelieveld, Elena Aller, Miguel Ángel López-Martínez, Ma Isabel López-Molina, Patrícia José, Fiona Blanco‐Kelly, Rosa Riveiro-Álvarez, Christian Gilissen, José M. Millán, Almudena Ávila‐Fernández, Carmen Ayuso

    Publicado 2016
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  6. 6
    Analysis of the ABCA4 genomic locus in Stargardt disease

    Analysis of the ABCA4 genomic locus in Stargardt disease por Jana Zernant, Ya‐Jing Xie, Carmen Ayuso, Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Francesca Simonelli, Francesco Testa, Michael B. Gorin, Samuel P. Strom, Mette Bertelsen, Thomas Rosenberg, Philip M. Boone, Bo Yuan, Radha Ayyagari, Péter L. Nagy, Stephen H. Tsang, Peter Gouras, Frederick T. Collison, James R. Lupski, Gerald A. Fishman, Rando Allikmets

    Publicado 2014
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  7. 7
    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP por Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin, Rosa Riveiro-Álvarez, F. Nienke Boonstra, Johanna M. M. Hooymans, Arijit Mukhopadhyay, Deborah Shears, Marleen van Bers, Ilse J. de Wijs, Anthonie J. van Essen, Rolf H. Sijmons, M. A. D. Tilanus, C. Erik van Nouhuys, Carmen Ayuso, Lies H. Hoefsloot, Frans P.M. Cremers

    Publicado 2010
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  8. 8
    Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

    Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes por Ana Arteche‐López, Almudena Ávila‐Fernández, Raquel Escutia Romero, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Ascensión Gimenez-Pardo, C. Vélez-Monsalve, J. Gallego‐Merlo, Ines Garcia-Vara, Berta Almoguera, Ana Bustamante‐Aragonés, Fiona Blanco‐Kelly, Saoud Tahsin Swafiri, Elvira Rodrı́guez-Pinilla, Pablo Mínguez, Isabel Lorda, María José Trujillo-Tiebas, Carmen Ayuso

    Publicado 2021
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  9. 9
    Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations por Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón, María Isabel López-Molina, Laura Campello, Alejandro Garanto, Laura Fernández‐Sánchez, Lonneke Duijkers, Miguel Ángel López-Martínez, Rosa Riveiro-Álvarez, Luciana Rodrigues Jacy da Silva, Rocío Sánchez-Alcudia, Esther Martín-Garrido, Noelia Reyes, Francisco García‐García, Joaquı́n Dopazo, Blanca García‐Sandoval, Rob W.J. Collin, Nicolás Cuenca, Carmen Ayuso

    Publicado 2015
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  10. 10
    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice por Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez, Noelia Sanchez-Bolivar, Olga Zurita, Ascensión Giménez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Cortón, Raquel Pérez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Ávila‐Fernández, Isabel Lorda, María José Trujillo-Tiebas, Blanca García‐Sandoval, María Isabel López-Molina, Fiona Blanco‐Kelly, Rosa Riveiro-Álvarez, Carmen Ayuso

    Publicado 2016
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  11. 11
    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies por Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu

    Publicado 2017
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  12. 12
    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications por Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero, Berta Almoguera, Fiona Blanco‐Kelly, Ester Carreño, Belén Jimenez‐Rolando, Rosario López‐Rodríguez, Isabel Lorda‐Sánchez, Inmaculada Martín-Mérida, Lucía Pérez de Ayala, Rosa Riveiro-Álvarez, Elvira Rodríguez‐Pinilla, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Ana Bustamante‐Aragonés, Rocio Cardero‐Merlo, Ruth Fernández‐Sánchez, J. Gallego‐Merlo, Ines Garcia-Vara, Ascensión Gimenez-Pardo, Laura Horcajada-Burgos, Fernando Infantes‐Barbero, Esther Lantero, Miguel Ángel López-Martínez, Andrea Martínez‐Ramas, Lorena Ondo, Marta Rodríguez de Alba, C. Sánchez-Jimeno, C. Vélez-Monsalve, Cristina Villaverde, Olga Zurita, Domingo Aguilera‐Garcia, Jana Aguirre-Lambán, Ana Arteche‐López, Diego Cantalapiedra, Patrícia José, Liliana Galbis-Martinez, Maria García‐Hoyos, Carlos Lombardia, María Isabel López-Molina, Raquel Pérez-Carro, Luciana Rodrigues Jacy da Silva, Carmen Ramos, Rocío Sánchez-Alcudia, Iker Sánchez‐Navarro, Sorina D. Tatu, Elena Vallespín, Elena Aller, Sara Bernal, Maria J. Gamundi, Gema García‐García, Inmaculada Hernan, Teresa Jaijo, Guillermo Antiñolo, Montserrat Baiget, Miguel Carballo, José M. Millán, Diana Valverde, Rando Allikmets, Sandro Banfi, Frans P.M. Cremers, Rob W.J. Collin, Elfride De Baere, Hákon Hákonarson, Susanne Kohl, Carlo Rivolta, Dror Sharon, María Concepción Alonso‐Cerezo, María Juliana Ballesta‐Martínez, Sergi Beltrán, Carmen Benito López, Jaume Catalá‐Mora, Claudio Catalli, Carmen Cotarelo-Pérez, Miguel Fernández‐Burriel, Ana Fontalba-Romero, Enrique Galán‐Gómez, María García‐Barcina, Loida M. Garcia-Cruz, Blanca Gener, Belén Gil-Fournier, Nancy Govea, Encarna Guillén‐Navarro, I. Hernando Acero, Cristina Irigoyen, Silvia Izquierdo Álvarez, Isabel Llano‐Rivas, Maria A. López-Ariztegui, Vanesa López‐González, Fermina Lopez-Grondona, Loreto Martorell, Pilar Mendez-Perez, María Moreno‐Igoa, Raluca Oancea-Ionescu, Francesc Palau, Guiomar Pérez de Nanclares, Feliciano J. Ramos-Fuentes, Raquel Rodríguez‐López

    Publicado 2021
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