Browsing by Author Gonzàlez-Duarte, Roser
Showing results 17 to 34 of 34
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| Issue Date | Title | Author(s) |
|---|---|---|
| 7-Mar-2007 | Elements transposables de tipus non-LTR als ascidis, amfioxs i àgnats | Permanyer i Ugartemendia, Jon |
| 23-Mar-2007 | L'Enzim deubiqüitinant USP25: cerca de substrats i relació estructura-funció | Bosch Comas, Anna |
| 6-Nov-1991 | Estudi comparatiu de l'estructura del gen "Adh" a vàries espècies de "Drosophila" | Marfany i Nadal, Gemma |
| 1-May-2019 | Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling | Bolinches-Amorós, Arantxa; León, Marian; del Buey Furió, Verónica; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser; Erceg, Slaven; Lukovic, Dunja |
| Oct-2006 | Gens, gènere i ciència | Gonzàlez-Duarte, Roser |
| Jul-2011 | High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse | Garanto, Alejandro; Riera, Marina; Pomares, Esther; Permanyer, Jon; De Castro-Miró, Marta; Sava, Florentina; Abril Ferrando, Josep Francesc, 1970-; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 31-Mar-2020 | Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variants | Toulis, Vasileios; Cortés-González, Vianney; Castro-Miró, Marta de; Sallum, Juliana Ferraz; Català-Mora, Jaume; Villanueva-Mendoza, Cristina; Ciccioli, Marcela; Gonzàlez-Duarte, Roser; Valero, Rebeca; Marfany i Nadal, Gemma |
| 13-Sep-2017 | Metodologies d'alt rendiment per a la identificació de noves mutacions i gens causants de distròfies de retina: estudi funcional de nous candidats | Castro Miró, Marta de |
| 14-Jun-2013 | Models in vivo i in vitro per a l'estudi de gens causants de distròfies de retina: CERKL i RP2. | Riera Gibernau, Marina |
| 2003 | The non-LTR retrotransposons in Ciona intestinalis: new insights into the evolution of chordate genomes | Permanyer i Ugartemendia, Jon; Gonzàlez-Duarte, Roser; Albalat Rodríguez, Ricard |
| 22-Dec-2016 | Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing | Castro Miró, Marta de; Tonda, Raul; Escudero Ferruz, Paula; Andrés, Rosa; Mayor Lorenzo, Andres; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez Ezcurra, Juan José; Farrando, Jorge; Pérez Santonja, Juan J.; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 2002 | ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins | Tusón Segarra, Miquel; Marfany i Nadal, Gemma; Herrero, Enric; Balcells Comas, Susana; Gonzàlez-Duarte, Roser; Hjelmqvist, Lars |
| 12-Jan-2009 | Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress | Tuson, Miquel; Garanto, Alejandro; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma |
| 12-Apr-2004 | Paper de les mutacions del mtDNA en la modulació del sistema antioxidant. Estudi en un model de cíbrids transmitocondrials | Vives Bauzà, Cristòfol |
| 11-Nov-2019 | RPGeNet v2 .0: expanding the universe of retinal disease gene interactions network | Arenas-Galnares, Rodrigo; Castillo Lara, Sergio; Toulis, Vasileios; Boloc, Daniel; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma; Abril Ferrando, Josep Francesc, 1970- |
| 1-Nov-2021 | The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes | Villanueva-Mendoza, Cristina; Tuson, Miquel; Apam-Garduño, David; de Castro-Miró, Marta; Tonda, Raul; Trotta, Jean Remi; Marfany i Nadal, Gemma; Valero, Rebeca; Cortés-González, Vianney; Gonzàlez-Duarte, Roser |
| 15-May-2009 | The UBA-UIM domains of USP25 regulate the enzyme ubiquitination state and modulate substrate recognition | Denuc, Amanda; Bosch Comas, Anna; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma |
| 7-Jan-2013 | Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype | Perrault, Isabelle; Estrada-Cuzcano, Alejandro; Lopez, Irma; Kohl, Susanne; Li, Shiqiang; Testa, Francesco; Zekveld, Renate; Pomares, Esther; Aboussair, Nisrine; Banfi, Sandro; Delphin, Nathalie; Den Hollander, Anneke I.; Edelson, Catherine; Florijn, Ralph; Jean-Pierre, Marc; Leowski, Corinne; Megarbane, Andre; Munnich, Arnold; Ren, Huanan; Bergen, Arthur; Chen, Rui; Cremers, Frans P. M.; Gonzàlez-Duarte, Roser; Koenekoop, Robert K.; Simonelli, Francesca; Wissinger, Bernd; Zhang, Qingjiong; Kaplan, Josseline; Rozet, Jean-Michel |