Minisatellite instability at the Adh locus reveals somatic polymorphism in amphioxus

Por Cañestro, Cristian, Gonzàlez-Duarte, Roser, Albalat, Ricard
Publicado em 2002

The non-LTR retrotransposons in Ciona intestinalis: new insights into the evolution of chordate genomes

Por Permanyer, Jon, Gonzàlez-Duarte, Roser, Albalat, Ricard
Publicado em 2003

Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)

Por Tuson, Miquel, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado em 2004

Getting closer to a pre-vertebrate genome: the non-LTR retrotransposons of Branchiostoma floridae

Por Permanyer, Jon, Albalat, Ricard, Gonzàlez-Duarte, Roser
Publicado em 2006

S-nitrosogluthathione reductase activity of amphioxus ADH3: insights into the nitric oxide metabolism

Por Godoy, Laura, Gonzàlez-Duarte, Roser, Albalat, Ricard
Publicado em 2006

Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress

Por Tuson, Miquel, Garanto, Alejandro, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado em 2009

The UBA-UIM Domains of the USP25 Regulate the Enzyme Ubiquitination State and Modulate Substrate Recognition

Por Denuc, Amanda, Bosch-Comas, Anna, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado em 2009

CERKL Knockdown Causes Retinal Degeneration in Zebrafish

Por Riera, Marina, Burguera, Demian, Garcia-Fernàndez, Jordi, Gonzàlez-Duarte, Roser
Publicado em 2013

Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance

Por Sánchez-Font, Ma Francisca, Bosch-Comas, Anna, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado em 2003

CERKL, a Retinal Disease Gene, Encodes an mRNA-Binding Protein That Localizes in Compact and Untranslated mRNPs Associated with Microtubules

Por Fathinajafabadi, Alihamze, Pérez-Jiménez, Eva, Riera, Marina, Knecht, Erwin, Gonzàlez-Duarte, Roser
Publicado em 2014

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

Por Hjelmqvist, Lars, Tuson, Miquel, Marfany, Gemma, Herrero, Enric, Balcells, Susana, Gonzàlez-Duarte, Roser
Publicado em 2002

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

Por Boloc, Daniel, Castillo-Lara, Sergio, Marfany, Gemma, Gonzàlez-Duarte, Roser, Abril, Josep F.
Publicado no PLoS One (2015)

Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25

Por Valero, Rebeca, Bayés, Mònica, Francisca Sánchez-Font, M, González-Angulo, Olga, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado em 2001

Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1

Por Permanyer, Jon, Navarro, Rafael, Friedman, James, Pomares, Esther, Castro-Navarro, Joaquín, Marfany, Gemma, Swaroop, Anand, Gonzàlez-Duarte, Roser
Publicado em 2010

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

Por de Castro-Miró, Marta, Pomares, Esther, Lorés-Motta, Laura, Tonda, Raul, Dopazo, Joaquín, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado em 2014

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

Por Valero, Rebeca, de Castro-Miró, Marta, Jiménez-Ochoa, Sofía, Rodríguez-Ezcurra, Juan José, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado no Genes (Basel) (2019)

RPGeNet v2.0: expanding the universe of retinal disease gene interactions network

Por Arenas-Galnares, Rodrigo, Castillo-Lara, Sergio, Toulis, Vasileios, Boloc, Daniel, Gonzàlez-Duarte, Roser, Marfany, Gemma, Abril, Josep F
Publicado no Database (Oxford) (2019)

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

Por Pomares, Esther, Riera, Marina, Permanyer, Jon, Méndez, Pilar, Castro-Navarro, Joaquín, Andrés-Gutiérrez, Ángeles, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado em 2010

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

Por Garanto, Alejandro, Mandal, Nawajes A., Egido-Gabás, Meritxell, Marfany, Gemma, Fabriàs, Gemma, Anderson, Robert E., Casas, Josefina, Gonzàlez-Duarte, Roser
Publicado em 2013

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

Por Toulis, Vasileios, Cortés-González, Vianney, de Castro-Miró, Marta, Ferraz Sallum, Juliana, Català-Mora, Jaume, Villanueva-Mendoza, Cristina, Ciccioli, Marcela, Gonzàlez-Duarte, Roser, Valero, Rebeca, Marfany, Gemma
Publicado no Genes (Basel) (2020)