Roser Gonzalez-Duarte
Affiliations: | Genetica | Universitat de Barcelona, Barcelona, Cataluña, Spain |
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"Roser Gonzalez-Duarte"Parents
Sign in to add mentorAntoni Prevosti | grad student | (Evolution Tree) | ||
Richard Ambler | post-doc | Edinburgh | ||
(Supervisor) |
Children
Sign in to add traineeCollaborators
Sign in to add collaboratorJosep F Abril | collaborator | (Evolution Tree) | |
Daniel Grinberg | collaborator | Universitat de Barcelona (Evolution Tree) |
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Publications
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Domènech EB, Andrés R, López-Iniesta MJ, et al. (2020) A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype. Investigative Ophthalmology & Visual Science. 61: 14 |
Gonzàlez-Duarte R, de Castro-Miró M, Tuson M, et al. (2019) Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies. Advances in Experimental Medicine and Biology. 1185: 215-219 |
Arenas-Galnares R, Castillo-Lara S, Toulis V, et al. (2019) RPGeNet v2.0: expanding the universe of retinal disease gene interactions network. Database : the Journal of Biological Databases and Curation. 2019 |
Bolinches-Amorós A, León M, Del Buey Furió V, et al. (2019) Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. Stem Cell Research. 38: 101455 |
de Castro-Miró M, Tonda R, Marfany G, et al. (2018) Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. The British Journal of Ophthalmology |
de Castro-Miró M, Tonda R, Escudero-Ferruz P, et al. (2016) Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. Plos One. 11: e0168966 |
Boloc D, Castillo-Lara S, Marfany G, et al. (2015) Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates. Plos One. 10: e0135307 |
de Castro-Miró M, Pomares E, Lorés-Motta L, et al. (2014) Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. Plos One. 9: e88410 |
Fathinajafabadi A, Pérez-Jiménez E, Riera M, et al. (2014) CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules. Plos One. 9: e87898 |
Riera M, Burguera D, Garcia-Fernàndez J, et al. (2013) CERKL knockdown causes retinal degeneration in zebrafish. Plos One. 8: e64048 |