Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

por Riveiro-Alvarez, Rosa, Vallespin, Elena, Wilke, Robert, Garcia-Sandoval, Blanca, Cantalapiedra, Diego, Aguirre-Lamban, Jana, Avila-Fernandez, Almudena, Gimenez, Ascension, Trujillo-Tiebas, Maria-Jose, Ayuso, Carmen
Publicado 2008

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

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

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas

por Calvete, Oriol, Garcia‐Pavia, Pablo, Domínguez, Fernando, Mosteiro, Lluc, Pérez‐Cabornero, Lucía, Cantalapiedra, Diego, Zorio, Esther, Ramón y Cajal, Teresa, Crespo‐Leiro, Maria G., Teulé, Álex, Lázaro, Conxi, Morente, Manuel M., Urioste, Miguel, Benitez, Javier
Publicado 2019

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

por Garcia-Hoyos, Maria, Auz-Alexandre, Carmen Laura, Almoguera, Berta, Cantalapiedra, Diego, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Gimenez, Ascension, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Trujillo-Tiebas, Maria Jose, Garcia-Sandoval, Blanca, Ramos, Carmen, Ayuso, Carmen
Publicado 2011