ALEJANDRO
GARCIA CASTAÑO
Ikertzaileren 2020-2021 tartean
LEIRE
MADARIAGA DOMINGUEZ
IRAKASLE ELKARTUA
LEIRE MADARIAGA DOMINGUEZ-rekin lankidetzan egindako argitalpenak (20)
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
2023
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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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Hypercalcemia in patients with mutations in NR3C2 and SCNN1B
Medicina Clinica
2022
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25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics
Nutrients, Vol. 14, Núm. 9
2021
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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
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Diabetes insípida nefrogénica
Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 269-274
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Five patients with disorders of calcium metabolism presented with GCM2 gene variants
Scientific Reports, Vol. 11, Núm. 1
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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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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
PLoS ONE, Vol. 15, Núm. 9 September
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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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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
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
2013
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Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene
Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140
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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
PLoS ONE, Vol. 8, Núm. 9