Publicaciones
El conocimiento generado en IrsiCaixa se comparte con la comunidad científica a través de la publicación de artículos en revistas científicas de alto impacto.
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
Skewed expression and up-regulation of the IL-12 and IL-18 receptors in resting and activated CD4 T cells from HIV-1-infected patients.
Gitelman's syndrome: towards genotype-phenotype correlations?
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
Renal expression of parvalbumin is critical for NaCl handling and response to diuretics.
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.