"Gens, gènere i ciència": Text de la conferència inaugural

by Roser Gonzàlez-Duarte
Published 2009-03-01

Document sobre proves genètiques de filiació

by Ángel Carracedo Álvarez, María Casado, Roser Gonzàlez-Duarte
Published 2009-03-01

The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition.

by Amanda Denuc, Anna Bosch-Comas, Roser Gonzàlez-Duarte, Gemma Marfany
Published 2009-01-01

CERKL knockdown causes retinal degeneration in zebrafish.

by Marina Riera, Demian Burguera, Jordi Garcia-Fernàndez, Roser Gonzàlez-Duarte
Published 2013-01-01

CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules.

by Alihamze Fathinajafabadi, Eva Pérez-Jiménez, Marina Riera, Erwin Knecht, Roser Gonzàlez-Duarte
Published 2014-01-01

Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates.

by Daniel Boloc, Sergio Castillo-Lara, Gemma Marfany, Roser Gonzàlez-Duarte, Josep F Abril
Published 2015-01-01

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

by Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte
Published 2014-01-01

Aberrant Splicing Events Associated to <i>CDH23</i> Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

by Rebeca Valero, Marta de Castro-Miró, Sofía Jiménez-Ochoa, Juan José Rodríguez-Ezcurra, Gemma Marfany, Roser Gonzàlez-Duarte
Published 2019-09-01

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

by Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja Lukovic
Published 2019-07-01

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

by Vasileios Toulis, Vianney Cortés-González, Marta de Castro-Miró, Juliana Ferraz Sallum, Jaume Català-Mora, Cristina Villanueva-Mendoza, Marcela Ciccioli, Roser Gonzàlez-Duarte, Rebeca Valero, Gemma Marfany
Published 2020-03-01

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

by Cristina Villanueva-Mendoza, Miquel Tuson, David Apam-Garduño, Marta de Castro-Miró, Raul Tonda, Jean Remi Trotta, Gemma Marfany, Rebeca Valero, Vianney Cortés-González, Roser Gonzàlez-Duarte
Published 2021-11-01

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

by Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte
Published 2016-01-01

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

by Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet
Published 2013-01-01