High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population

Por Gamundi, María José, Hernan, Imma, Muntanyola, Marta, Trujillo, María José, García-Sandoval, Blanca, Ayuso, Carmen, Baiget, Montserrat, Carballo, Miguel
Publicado em 2007

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Por Gamundi, María José, Hernan, Imma, Martínez-Gimeno, María, Maseras, Miquel, García-Sandoval, Blanca, Ayuso, Carmen, Antiñolo, Guillermo, Baiget, Montserrat, Carballo, Miguel
Publicado em 2006

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 em 2008

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

Por Kamenarova, Kunka, Corton, Marta, García-Sandoval, Blanca, Fernández-San Jose, Patricia, Panchev, Valentin, Ávila-Fernández, Almudena, López-Molina, Maria Isabel, Chakarova, Christina, Ayuso, Carmen, Bhattacharya, Shomi S.
Publicado em 2013

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

Benefits of omega-3 fatty acid dietary supplementation on health-related quality of life in patients with meibomian gland dysfunction

Por Oleñik, Andrea, Mahillo-Fernández, Ignacio, Alejandre-Alba, Nicolás, Fernández-Sanz, Guillermo, Pérez, María Alarcón, Luxan, Sol, Quintana, Silvia, Martínez de Carneros Llorente, Alfonso, García-Sandoval, Blanca, Jiménez-Alfaro, Ignacio
Publicado em 2014

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Por Nikopoulos, Konstantinos, Avila-Fernandez, Almudena, Corton, Marta, Lopez-Molina, Maria Isabel, Perez-Carro, Raquel, Bontadelli, Lara, Di Gioia, Silvio Alessandro, Zurita, Olga, Garcia-Sandoval, Blanca, Rivolta, Carlo, Ayuso, Carmen
Publicado no Sci Rep (2015)

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 no PLoS One (2016)

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 no PLoS One (2018)

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 em 2011

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Por Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Publicado no Orphanet J Rare Dis (2014)

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

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Por Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Publicado no PLoS One (2015)

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

Por Sanchez-Alcudia, Rocio, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel Angel, Sanchez-Bolivar, Noelia, Zurita, Olga, Gimenez, Ascension, Villaverde, Cristina, Rodrigues-Jacy da Silva, Luciana, Corton, Marta, Perez-Carro, Raquel, Torriano, Simona, Kalatzis, Vasiliki, Rivolta, Carlo, Avila-Fernandez, Almudena, Lorda, Isabel, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Ayuso, Carmen
Publicado no PLoS One (2016)

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Por Sanchez-Navarro, Iker, R. J. da Silva, Luciana, Blanco-Kelly, Fiona, Zurita, Olga, Sanchez-Bolivar, Noelia, Villaverde, Cristina, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Tahsin-Swafiri, Saoud, Minguez, Pablo, Riveiro-Alvarez, Rosa, Lorda, Isabel, Sanchez-Alcudia, Rocío, Perez-Carro, Raquel, Valverde, Diana, Liu, Yichuan, Tian, Lifeng, Hakonarson, Hakon, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Publicado no Sci Rep (2018)