Publications by authors named "Emma Borras"

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Corrigendum to "Characterization and economic burden of KRASG12C-mutant lung cancer in real-world Spanish practice: a retrospective observational study (SILK study)" [Lung Cancer 206 (2025) 108677].
Noemí Reguart, Laura Sampietro-Colom, Òscar Juan-Vidal, Mònica Aguiló, Edurne Arriola

Lung Cancer· November 2025

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Characterization and economic burden of KRASG12C-mutant lung cancer in real-world Spanish practice: a retrospective observational study (SILK study).
Noemí Reguart, Laura Sampietro-Colom, Òscar Juan-Vidal, Mònica Aguiló, Edurne Arriola

Lung Cancer· August 2025

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Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.
Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti

J Med Genet· August 2024

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Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sánchez-Heras, Pilar Mur

Eur J Hum Genet· July 2024

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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
José M Moreno-Cabrera, Lidia Feliubadaló, Marta Pineda, Patricia Prada-Dacasa, Mireia Ramos-Muntada

Database (Oxford)· July 2024

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Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Elena Milla, Javier Laguna, Mª Socorro Alforja, Beatriz Pascual, María José Gamundi

PLoS One· January 2024

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New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Miguel de Sousa Dias, Imma Hernan, Barbara Delás, Beatriz Pascual, Emma Borràs

Mol Vis· May 2016

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The Xenopus alcohol dehydrogenase gene family: characterization and comparative analysis incorporating amphibian and reptilian genomes.
Emma Borràs, Ricard Albalat, Gregg Duester, Xavier Parés, Jaume Farrés

BMC Genomics· March 2014

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Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Miguel de Sousa Dias, Imma Hernan, Beatriz Pascual, Emma Borràs, Begoña Mañé

Mol Vis· September 2013

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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Elena Millá, Begoña Mañé, Susana Duch, Imma Hernan, Emma Borràs

Mol Vis· September 2013

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High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.
Emma Borràs, Emma Dotor, Angels Arcusa, Maria J Gamundi, Imma Hernan

Front Genet· January 2013

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Toward a clinical practice guide in pharmacogenomics testing for functional polymorphisms of drug-metabolizing enzymes. Gene/drug pairs and barriers perceived in Spain.
José A G Agúndez, Francisco Abad-Santos, Ana Aldea, Hortensia Alonso-Navarro, María L Bernal

Front Genet· December 2012

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Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
Imma Hernan, Emma Borràs, Miguel de Sousa Dias, María José Gamundi, Begoña Mañé

J Mol Diagn· September 2012

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Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing.
Emma Borràs, Ismael Jurado, Imma Hernan, María José Gamundi, Miguel Dias

BMC Cancer· September 2011

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Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
Imma Hernan, María José Gamundi, Ester Planas, Emma Borràs, Miquel Maseras

Invest Ophthalmol Vis Sci· June 2011

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Three-dimensional structure and enzymatic function of proapoptotic human p53-inducible quinone oxidoreductase PIG3.
Sergio Porté, Eva Valencia, Evgenia A Yakovtseva, Emma Borràs, Naeem Shafqat

J Biol Chem· June 2009

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Synthesis of enantiopure C3- and C4-hydroxyretinals and their enzymatic reduction by ADH8 from Xenopus laevis.
Marta Domínguez, Rosana Alvarez, Emma Borràs, Jaume Farrés, Xavier Parés

Org Biomol Chem· January 2006

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