Publicacions
El coneixement generat a IrsiCaixa es comparteix amb la comunitat científica a través de la publicació d’articles a revistes científiques d’alt impacte.
New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors.
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients.
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
Renal expression of parvalbumin is critical for NaCl handling and response to diuretics.
Gitelman's syndrome: towards genotype-phenotype correlations?
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.