LEIRE
MADARIAGA DOMINGUEZ
PROFESORADO ASOCIADO
Hospital de Cruces
Barakaldo, EspañaPublications in collaboration with researchers from Hospital de Cruces (21)
2024
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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
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Genetic profile of a large Spanish cohort with hypercalcemia
Frontiers in Endocrinology, Vol. 15
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
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Use of rasburicase to improve kidney function in children with hyperuricemia and acute kidney injury
Clinical and Experimental Nephrology, Vol. 28, Núm. 1, pp. 13-22
2023
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Autosomal dominant polycystic kidney disease in young adults
Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995
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Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Scientific reports, Vol. 13, Núm. 1, pp. 12587
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Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130
2022
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Secondary Immunosuppression in Pediatric Kidney Transplant Recipients
Experimental and Clinical Transplantation, Vol. 20, Núm. 3, pp. 258-264
2021
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055
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Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
Nefrologia, Vol. 41, Núm. 4, pp. 383-390
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Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis
Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142
2020
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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
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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
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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
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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
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Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia
Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086
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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
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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
2017
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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
PLoS ONE, Vol. 12, Núm. 3
2015
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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385