Resultats de la cerca - Fiona Blanco‐Kelly

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  1. 1
    An Update on the Genetics of Usher Syndrome

    An Update on the Genetics of Usher Syndrome per José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco‐Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

    Publicat 2010
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  2. 2
    Clinical Aspects of Usher Syndrome and the<i>USH2A</i>Gene in a Cohort of 433 Patients

    Clinical Aspects of Usher Syndrome and the<i>USH2A</i>Gene in a Cohort of 433 Patients per Fiona Blanco‐Kelly, Teresa Jaijo, Elena Aller, Almudena Ávila‐Fernández, María Isabel López-Molina, Ascensión Giménez, Blanca Garcı́a-Sandoval, José M. Millán, Carmen Ayuso

    Publicat 2014
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  3. 3
    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 per 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

    Publicat 2013
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  4. 4
    Targeted next generation sequencing for molecular diagnosis of Usher syndrome

    Targeted next generation sequencing for molecular diagnosis of Usher syndrome per María José Aparisi, Elena Aller, Carla Fuster‐García, Gema García‐García, Regina Rodrigo, Rafael P. Vázquez‐Manrique, Fiona Blanco‐Kelly, Carmen Ayuso, Anne‐Françoise Roux, Teresa Jaijo, José M. Millán

    Publicat 2014
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  5. 5
    Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

    Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families per Inmaculada Martín-Mérida, Domingo Aguilera‐Garcia, Patrícia José, Fiona Blanco‐Kelly, Olga Zurita, Berta Almoguera, Blanca García‐Sandoval, Almudena Ávila‐Fernández, Ana Arteche‐López, Pablo Mínguez, Miguel Carballo, Marta Cortón, Carmen Ayuso

    Publicat 2018
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  6. 6
    Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

    Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations per Gema García‐García, María José Aparisi, Teresa Jaijo, Regina Rodrigo, Ana M. León, Almudena Ávila‐Fernández, Fiona Blanco‐Kelly, Sara Bernal, Rafael Navarro, M. Díaz-Llopis, Montserrat Baiget, Carmen Ayuso, José M. Millán, Elena Aller

    Publicat 2011
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  7. 7
    Analysis of the <i>PRPF31</i> Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

    Analysis of the <i>PRPF31</i> Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement per Inmaculada Martín-Mérida, Rocío Sánchez-Alcudia, Patrícia José, Fiona Blanco‐Kelly, Raquel Pérez-Carro, Luciana Rodriguez-Jacy da Silva, Berta Almoguera, Blanca Garcı́a-Sandoval, María Isabel López-Molina, Almudena Ávila‐Fernández, Miguel Carballo, Marta Cortón, Carmen Ayuso

    Publicat 2017
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  8. 8
    CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility

    CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility per Fiona Blanco‐Kelly, Fuencisla Matesanz, Antonio Alcina, María Teruel, Lina‐Marcela Diaz‐Gallo, María Gómez–García, Miguel Ángel López‐Nevot, Luı́s Rodrigo, Antonio Nieto, Carlos Cardeña, G Alcaín, Manuel Díaz‐Rubio, Emilio G. de la Concha, Óscar Fernández, Rafael Arroyo, Javier Martı́n, Elena Urcelay

    Publicat 2010
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  9. 9
    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 per 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

    Publicat 2021
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  10. 10
    Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

    Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies per 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

    Publicat 2013
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  11. 11
    Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

    Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa per 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

    Publicat 2016
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  12. 12
    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 per 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

    Publicat 2021
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  13. 13
    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice per 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

    Publicat 2016
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  14. 14
    Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

    Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data per Nikolas Pontikos, Jing Yu, Ismail Moghul, Lucy Withington, Fiona Blanco‐Kelly, Tom Vulliamy, Tsz Lun Ernest Wong, Cian Murphy, Valentina Cipriani, Alessia Fiorentino, Gavin Arno, Daniel Greene, Julius O.B. Jacobsen, Tristan Clark, David S Gregory, Andrea M Nemeth, Stephanie Halford, Chris F. Inglehearn, Susan M. Downes, Graeme Black, Andrew R. Webster, Alison J. Hardcastle, Vincent Plagnol

    Publicat 2017
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  15. 15
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation per Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Publicat 2023
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  16. 16
    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa per Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti‐Malin, Manir Ali, Alaa AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Mirella Telles Salgueiro Barboni, Miriam Bauwens, Tamar Ben‐Yosef, David G. Birch, Pooja Biswas, Fiona Blanco‐Kelly, Béatrice Bocquet, Camiel J. F. Boon, Kari Branham, Alexis Ceecee Britten‐Jones, Kinga M. Bujakowska, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Peter Charbel Issa, Naomi Chadderton, Luísa Coutinho Santos, Stephen P. Daiger, Elfride De Baere, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire‐Marie Dhaenens, Ľubica Ďuďáková, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Lidia Fernández‐Caballero, Juliana Maria Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Kensuke Goto, Roser Gonzàlez‐Duarte, Sam Griffiths‐Jones, Tobias B. Haack, Lonneke Haer‐Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Alexander Hoischen, Josephine Prener Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Kaylie Webb-Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Krisztina Knézy, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kuehlewein, Tina M. Lamey, Bart P. Leroy, María Pilar Martín-Gutiérrez, Nelson Martins, L. Mauring, Rina Leibu, Siying Lin, Petra Lišková, Irma López, Víctor Rodríguez, Omar A. Mahroo, Gae͏̈l Manes

    Publicat 2025
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  17. 17
    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 per 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

    Publicat 2021
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