Publications
Knowledge generated at IrsiCaixa is shared with the scientific community through the publication of articles in high impact scientific journals.
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
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.
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.