Retinitis pigmentosa and allied conditions today: a paradigm of translational research

Por Ayuso, Carmen, Millan, Jose M
Publicado em 2010

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

Por Ayuso, Carmen, Millán, José M, Mancheño, Marta, Dal-Ré, Rafael
Publicado em 2013

Reply to Townsend et al.

Por Ayuso, Carmen, Millán, José M, Mancheño, Marta, Dal-Ré, Rafael
Publicado em 2014

Molecular approach in the study of Alström syndrome: Analysis of ten Spanish families

Por Piñeiro-Gallego, Teresa, Cortón, Marta, Ayuso, Carmen, Baiget, Montserrat, Valverde, Diana
Publicado em 2012

Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice

Por Dal-Ré, Rafael, Katsanis, Nicholas, Katsanis, Sara, Parker, Lisa S., Ayuso, Carmen
Publicado em 2014

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

Por Tanackovic, Goranka, Ransijn, Adriana, Ayuso, Carmen, Harper, Shyana, Berson, Eliot L., Rivolta, Carlo
Publicado em 2011

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 em 2011

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis

Por Maia-Lopes, Susana, Aguirre-Lamban, Jana, Castelo-Branco, Miguel, Riveiro-Alvarez, Rosa, Ayuso, Carmen, Silva, Eduardo Duarte
Publicado em 2009

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

Por Pereiro, Ines, Valverde, Diana, Piñeiro-Gallego, Teresa, Baiget, Montserrat, Borrego, Salud, Ayuso, Carmen, Searby, Charles, Nishimura, Darryl
Publicado em 2010

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

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)

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

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

Por Campos-Mollo, Ezequiel, López-Garrido, María-Pilar, Blanco-Marchite, Cristina, Garcia-Feijoo, Julián, Peralta, Jesús, Belmonte-Martínez, José, Ayuso, Carmen, Escribano, Julio
Publicado em 2009

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 em 2012

A phase II open label trial evaluating safety and efficacy of a telomerase peptide vaccination in patients with advanced hepatocellular carcinoma

Por Greten, Tim F, Forner, Alejandro, Korangy, Firouzeh, N'Kontchou, Gisele, Barget, Nathalie, Ayuso, Carmen, Ormandy, Lars A, Manns, Michael P, Beaugrand, Michel, Bruix, Jordi
Publicado em 2010

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Por Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L., Rivolta, Carlo
Publicado em 2014

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

Por Cuadrado-Corrales, Natividad, Sánchez-Jimeno, Carolina, García, Marta, Escámez, María-José, Illera, Nuria, Hernández-Martín, Ángela, Trujillo-Tiebas, María-José, Ayuso, Carmen, Del Rio, Marcela
Publicado em 2010

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 em 2014

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP

Por de Sousa Dias, Miguel, Hernan, Imma, Delás, Barbara, Pascual, Beatriz, Borràs, Emma, Gamundi, Maria José, Mañé, Begoña, Fernández-San José, Patricia, Ayuso, Carmen, Carballo, Miguel
Publicado no Mol Vis (2015)