Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (20)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

2023

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

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

  2. Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

    Medicina Clinica

2022

  1. 25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics

    Nutrients, Vol. 14, Núm. 9

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. Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family

    Medicina Clinica

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

    Scientific Reports, Vol. 11, Núm. 1

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

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

  5. Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain

    Scientific Reports, Vol. 11, Núm. 1

  6. 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. Familial central diabetes insipidus

    Medicina Clinica, Vol. 155, Núm. 12, pp. 559-560

  2. Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 4

  3. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

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

    PLoS ONE, Vol. 15, Núm. 9 September

  5. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

    Frontiers in Endocrinology, Vol. 11

  6. Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 7

2019

  1. Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

    PLoS ONE, Vol. 14, Núm. 7

  2. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study

    European journal of endocrinology, Vol. 180, Núm. 1, pp. 59-70

  3. Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

    Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379

2018

  1. Identification of a novel large casr deletion in a patient with familial hypocalciuric hypercalcemia

    Endocrinology, Diabetes and Metabolism Case Reports, Vol. 2018, Núm. 1, pp. 1-5