Browsing by Author Gonzàlez-Duarte, Roser

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Issue DateTitleAuthor(s)
12-Aug-2015Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidatesBoloc, Daniel; Castillo-Lara, Sergio; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser; Abril Ferrando, Josep Francesc, 1970-
Sep-2004Document sobre dones i ciènciaGonzàlez-Duarte, Roser
Nov-2006Document sobre proves genètiques de filiacióCarracedo Álvarez, Ángel; Casado, María; Gonzàlez-Duarte, Roser
7-Mar-2007Elements transposables de tipus non-LTR als ascidis, amfioxs i àgnatsPermanyer i Ugartemendia, Jon
23-Mar-2007L'Enzim deubiqüitinant USP25: cerca de substrats i relació estructura-funcióBosch Comas, Anna
6-Nov-1991Estudi comparatiu de l'estructura del gen "Adh" a vàries espècies de "Drosophila"Marfany i Nadal, Gemma
1-May-2019Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy siblingBolinches-Amorós, Arantxa; León, Marian; del Buey Furió, Verónica; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser; Erceg, Slaven; Lukovic, Dunja
Oct-2006Gens, gènere i ciènciaGonzàlez-Duarte, Roser
Jul-2011High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouseGaranto, 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-2020Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variantsToulis, 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-2017Metodologies d'alt rendiment per a la identificació de noves mutacions i gens causants de distròfies de retina: estudi funcional de nous candidatsCastro Miró, Marta de
14-Jun-2013Models in vivo i in vitro per a l'estudi de gens causants de distròfies de retina: CERKL i RP2.Riera Gibernau, Marina
2003The non-LTR retrotransposons in Ciona intestinalis: new insights into the evolution of chordate genomesPermanyer i Ugartemendia, Jon; Gonzàlez-Duarte, Roser; Albalat Rodríguez, Ricard
22-Dec-2016Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencingCastro 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
2002ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteinsTusón Segarra, Miquel; Marfany i Nadal, Gemma; Herrero, Enric; Balcells Comas, Susana; Gonzàlez-Duarte, Roser; Hjelmqvist, Lars
12-Jan-2009Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stressTuson, Miquel; Garanto, Alejandro; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma
12-Apr-2004Paper de les mutacions del mtDNA en la modulació del sistema antioxidant. Estudi en un model de cíbrids transmitocondrialsVives Bauzà, Cristòfol
11-Nov-2019RPGeNet v2 .0: expanding the universe of retinal disease gene interactions networkArenas-Galnares, Rodrigo; Castillo Lara, Sergio; Toulis, Vasileios; Boloc, Daniel; Gonzàlez-Duarte, Roser; Marfany i Nadal, Gemma; Abril Ferrando, Josep Francesc, 1970-
29-Dec-2019Scaling new heights in the genetic diagnosis of inherited retinal dystrophiesGonzàlez-Duarte, Roser; de Castro-Miró, Marta; Tuson, Miquel; Ramírez-Castañeda, Valeria; Valero-Gils, Rebeca; Marfany i Nadal, Gemma
1-Nov-2021The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypesVillanueva-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