Publications by the researcher in collaboration with LEIRE MADARIAGA DOMINGUEZ (10)

2025

  1. Association of germline variants in the ZFX gene with primary hyperparathyroidism

    PLOS ONE, Vol. 20, Núm. 8 AUGUST

  2. Response to commentary on “Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants”

    Pediatric Nephrology

  3. Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants

    Pediatric Nephrology

2024

  1. Genetic profile of a large Spanish cohort with hypercalcemia

    Frontiers in Endocrinology, Vol. 15

2023

  1. Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

    Scientific reports, Vol. 13, Núm. 1, pp. 12587

2021

  1. Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas

    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, Vol. 41, Núm. 4, pp. 383-390

  2. Five patients with disorders of calcium metabolism presented with GCM2 gene variants

    Scientific Reports, Vol. 11, Núm. 1

  3. Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives

    Nefrologia, Vol. 41, Núm. 4, pp. 383-390

  4. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

2020

  1. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

    PLoS ONE, Vol. 15, Núm. 9 September