An Update on the Genetics of Usher Syndrome

por Millán, José M., Aller, Elena, Jaijo, Teresa, Blanco-Kelly, Fiona, Gimenez-Pardo, Ascensión, Ayuso, Carmen
Publicado 2011

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

por Bea-Mascato, Brais, Solarat, Carlos, Perea-Romero, Irene, Jaijo, Teresa, Blanco-Kelly, Fiona, Millán, José M., Ayuso, Carmen, Valverde, Diana
Publicado 2021

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa

por Blanco-Kelly, Fiona, García-Hoyos, María, Cortón, Marta, Ávila-Fernández, Almudena, Riveiro-Álvarez, Rosa, Giménez, Ascensión, Hernan, Inma, Carballo, Miguel, Ayuso, Carmen
Publicado 2012

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

por Blanco-Kelly, Fiona, Rodrigues-Jacy da Silva, Luciana, Sanchez-Navarro, Iker, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Corton, Marta, Ayuso, Carmen
Publicado 2017

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

por de la Fuente, Lorena, Del Pozo-Valero, Marta, Perea-Romero, Irene, Blanco-Kelly, Fiona, Fernández-Caballero, Lidia, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo
Publicado 2023

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

por García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Publicado 2014

Retinal Structure in RPE65-Associated Retinal Dystrophy

por Kumaran, Neruban, Georgiou, Michalis, Bainbridge, James W. B., Bertelsen, Mette, Larsen, Michael, Blanco-Kelly, Fiona, Ayuso, Carmen, Tran, Hoai Viet, Munier, Francis L., Kalitzeos, Angelos, Michaelides, Michel
Publicado 2020

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

por El-Asrag, Mohammed E., Corton, Marta, McKibbin, Martin, Avila-Fernandez, Almudena, Mohamed, Moin D., Blanco-Kelly, Fiona, Toomes, Carmel, Inglehearn, Chris F., Ayuso, Carmen, Ali, Manir
Publicado 2022

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

por Corton, Marta, Tatu, Sorina D, Avila-Fernandez, Almudena, Vallespín, Elena, Tapias, Ignacio, Cantalapiedra, Diego, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Bernal, Sara, García-Sandoval, Blanca, Baiget, Montserrat, Ayuso, Carmen
Publicado 2013

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

por Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Publicado 2014

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

por Medina-Trillo, Cristina, Sánchez-Sánchez, Francisco, Aroca-Aguilar, José-Daniel, Ferre-Fernández, Jesús-José, Morales, Laura, Méndez-Hernández, Carmen-Dora, Blanco-Kelly, Fiona, Ayuso, Carmen, García-Feijoo, Julián, Escribano, Julio
Publicado 2015

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

por Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta
Publicado 2017

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

por Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K
Publicado 2023

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

por Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K
Publicado 2023

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

por Blanco-Kelly, Fiona, García Hoyos, María, Lopez Martinez, Miguel Angel, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Fernandez-San Jose, Patricia, Avila-Fernandez, Almudena, Corton, Marta, Millan, Jose M., García Sandoval, Blanca, Ayuso, Carmen
Publicado 2016

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

por Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M., Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M., Cremers, Frans P.M., Ayuso, Carmen
Publicado 2010

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

por Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena
Publicado 2011

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

por Pérez-Carro, Raquel, Blanco-Kelly, Fiona, Galbis-Martínez, Lilián, García-García, Gema, Aller, Elena, García-Sandoval, Blanca, Mínguez, Pablo, Corton, Marta, Mahíllo-Fernández, Ignacio, Martín-Mérida, Inmaculada, Avila-Fernández, Almudena, Millán, José M., Ayuso, Carmen
Publicado 2018

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

por Marakhonov, Andrey V., Voskresenskaya, Anna A., Ballesta, Maria Jose, Konovalov, Fedor A., Vasilyeva, Tatyana A., Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A., Kadyshev, Vitaly V., López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A., Corton, Marta
Publicado 2020

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

por Galbis‐Martínez, Lilián, Blanco‐Kelly, Fiona, García‐García, Gema, Ávila‐Fernández, Almudena, Jaijo, Teresa, Fuster‐García, Carla, Perea‐Romero, Irene, Zurita‐Muñoz, Olga, Jimenez‐Rolando, Belén, Carreño, Ester, García‐Sandoval, Blanca, Millán, José M., Ayuso, Carmen
Publicado 2021