Publications by authors named "Begona Mane"

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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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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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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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