Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene

Por Francisco Zurita-Díaz, María del Carmen Ortuño-Costela, Ana Moreno-Izquierdo, Liliana Galbis, José María Millán, Carmen Ayuso, Rafael Garesse, M. Esther Gallardo
Publicado em 2018-08-01

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Por Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Publicado em 2017-01-01

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

Por Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis
Publicado em 2019-09-01

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

Por Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso
Publicado em 2015-01-01

Diabetes‐mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunction

Por Laura Del Puerto‐Nevado, Aranzazu Santiago‐Hernandez, Sonia Solanes‐Casado, Nieves Gonzalez, Marta Ricote, Marta Corton, Isabel Prieto, Sebastian Mas, Ana Belen Sanz, Oscar Aguilera, Carmen Gomez‐Guerrero, Carmen Ayuso, Alberto Ortiz, Federico Rojo, Jesus Egido, Jesus Garcia‐Foncillas, Pablo Minguez, Gloria Alvarez‐Llamas, on behalf of the DiabetesCancerConnect Consortium
Publicado em 2019-09-01

SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes

Por Brenda Martínez-González, María Eugenia Soria, Lucía Vázquez-Sirvent, Cristina Ferrer-Orta, Rebeca Lobo-Vega, Pablo Mínguez, Lorena de la Fuente, Carlos Llorens, Beatriz Soriano, Ricardo Ramos, Marta Cortón, Rosario López-Rodríguez, Carlos García-Crespo, Isabel Gallego, Ana Isabel de Ávila, Jordi Gómez, Luis Enjuanes, Llanos Salar-Vidal, Jaime Esteban, Ricardo Fernandez-Roblas, Ignacio Gadea, Carmen Ayuso, Javier Ruíz-Hornillos, Nuria Verdaguer, Esteban Domingo, Celia Perales
Publicado em 2022-04-01

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Por Li, Jian-Liang, Hayden, Michael R, Warby, Simon C, Durr, Alexandra, Morrison, Patrick J, Nance, Martha, Ross, Christopher A, Margolis, Russell L, Rosenblatt, Adam, Squitieri, Ferdinando, Frati, Luigi, Gómez-Tortosa, Estrella, García, Carmen Ayuso, Suchowersky, Oksana, Klimek, Mary Lou, Trent, Ronald JA, McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Paulsen, Jane S, Jones, Randi, Ashizawa, Tetsuo, Lazzarini, Alice, Wheeler, Vanessa C, Prakash, Ranjana, Xu, Gang, Djoussé, Luc, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Hakky, Michael, Cupples, L Adrienne, Saint-Hilaire, Marie H, Cha, Jang-Ho J, Hersch, Steven M, Penney, John B, Harrison, Madaline B, Perlman, Susan L, Zanko, Andrea, Abramson, Ruth K, Lechich, Anthony J, Duckett, Ayana, Marder, Karen, Conneally, P Michael, Gusella, James F, MacDonald, Marcy E, Myers, Richard H
Publicado em 2006