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

por Ayuso, Carmen, Millan, Jose M
Publicado 2010

Reasons for and time to retraction of genetics articles published between 1970 and 2018

por Dal-Ré, Rafael, Ayuso, Carmen
Publicado 2019

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 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 2014

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

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 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 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 2007

Analysis of Polyhydroxyalkanoates Granules in Haloferax mediterranei by Double-Fluorescence Staining with Nile Red and SYBR Green by Confocal Fluorescence Microscopy

por Cánovas, Verónica, Garcia-Chumillas, Salvador, Monzó, Fuensanta, Simó-Cabrera, Lorena, Fernández-Ayuso, Carmen, Pire, Carmen, Martínez-Espinosa, Rosa María
Publicado 2021

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 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 2016

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

Portal Hypertension may Influence the Registration of Hypointensity of Small Hepatocellular Carcinoma in the Hepatobiliary Phase in Gadoxetic Acid MR

por Caparroz, Carla, Forner, Alejandro, Rimola, Jordi, Darnell, Anna, García-Criado, Ángeles, Ayuso, Juan Ramón, Reig, María, Bruix, Jordi, Ayuso, Carmen
Publicado 2022

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 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 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 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

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

por Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Publicado 2019

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

por Tamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta
Publicado 2023

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