Browsing by Author Gonzàlez-Duarte, Roser
Showing results 14 to 33 of 35
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Issue Date | Title | Author(s) |
---|---|---|
12-Aug-2015 | Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidates | Boloc, Daniel; Castillo-Lara, Sergio; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser; Abril Ferrando, Josep Francesc, 1970- |
Sep-2004 | Document sobre dones i ciència | Gonzàlez-Duarte, Roser |
Nov-2006 | Document sobre proves genètiques de filiació | Carracedo Álvarez, Ángel; Casado, María; Gonzàlez-Duarte, Roser |
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- |
29-Dec-2019 | Scaling new heights in the genetic diagnosis of inherited retinal dystrophies | Gonzàlez-Duarte, Roser; de Castro-Miró, Marta; Tuson, Miquel; Ramírez-Castañeda, Valeria; Valero-Gils, Rebeca; Marfany i Nadal, Gemma |
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 |