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

Por Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
Publicado em 2013

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Por Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
Publicado no PLoS One (2016)

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 em 2013

Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families

Por Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Zernant, Jana, Aguirre-Lamban, Jana, Cantalapiedra, Diego, Avila-Fernandez, Almudena, Gimenez, A., Lopez-Molina, Maria-Isabel, Garcia-Sandoval, Blanca, Blanco-Kelly, Fiona, Corton, Marta, Tatu, Sorina, Jose, Patricia Fernandez-San, Trujillo-Tiebas, Maria-Jose, Ramos, Carmen, Allikmets, Rando, Ayuso, Carmen
Publicado em 2013