Publicaciones en colaboración con investigadoras/es de Hospital de Cruces (16)

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

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

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

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

    Scientific Reports, Vol. 11, Núm. 1

  3. 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. 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

  2. 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

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

    Frontiers in Endocrinology, Vol. 11

  4. 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

2015

  1. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385

2013

  1. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9