F
Fiona Blanco-Kelly
Researcher at Autonomous University of Madrid
Publications - 76
Citations - 1800
Fiona Blanco-Kelly is an academic researcher from Autonomous University of Madrid. The author has contributed to research in topics: Retinitis pigmentosa & Medicine. The author has an hindex of 22, co-authored 63 publications receiving 1379 citations. Previous affiliations of Fiona Blanco-Kelly include Hospital Clínico San Carlos & Carlos III Health Institute.
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Journal ArticleDOI
An Update on the Genetics of Usher Syndrome
José M. Millán,Elena Aller,Teresa Jaijo,Fiona Blanco-Kelly,Ascension Gimenez-Pardo,Carmen Ayuso +5 more
TL;DR: Usher syndrome is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction, and is the most common cause underlying deafness and blindness of genetic origin.
Journal Article
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Almudena Avila-Fernandez,Diego Cantalapiedra,Elena Aller,Elena Vallespín,Jana Aguirre-Lamban,Fiona Blanco-Kelly,Marta Corton,Rosa Riveiro-Alvarez,Rando Allikmets,María José Trujillo-Tiebas,José M. Millán,Frans P.M. Cremers,Carmen Ayuso +12 more
TL;DR: The genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families, and Retinol Dehydrogenase 12 was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A and Ceramide Kinase-Like were the mostrequently mutated genes in the typical RP group.
Journal ArticleDOI
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
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 +10 more
TL;DR: Targeted next generation sequencing allowed us to detect both point mutations and large rearrangements in a single experiment, minimizing the economic cost of the study, increasing the detection ratio of the genetic cause of the disease and improving the genetic diagnosis of Usher syndrome patients.
Journal ArticleDOI
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Marta Corton,Sorina D. Tatu,Almudena Avila-Fernandez,Elena Vallespín,Ignacio Tapias,Diego Cantalapiedra,Fiona Blanco-Kelly,Rosa Riveiro-Alvarez,Sara Bernal,Blanca Garcia-Sandoval,Montserrat Baiget,Carmen Ayuso +11 more
TL;DR: This study represents the most complete mutational screening of CRB1 in a Spanish LCA and EORP cohort, allowing us to establish gene-specific frequencies and to provide a wide spectrum ofCRB1 mutations in the Spanish population.
Journal ArticleDOI
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Rosa Riveiro-Alvarez,Miguel-Angel Lopez-Martinez,Jana Zernant,Jana Aguirre-Lamban,Diego Cantalapiedra,Almudena Avila-Fernandez,Ascension Gimenez,Maria-Isabel Lopez-Molina,Blanca Garcia-Sandoval,Fiona Blanco-Kelly,Marta Corton,Sorina D. Tatu,Patricia Fernandez-San Jose,M J Trujillo-Tiebas,Carmen Ramos,Rando Allikmets,Carmen Ayuso +16 more
TL;DR: In this paper, a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD), cone-rod dystrophy (arCRD), and retinitis pigmentosa (arRP), was provided by considering the type of variants and age at onset.