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

Nutrients, 2022-04, Vol.14 (9), p.1854

2022

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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

PloS one, 2017-03, Vol.12 (3), p.e0173581-e0173581

2017

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

Scientific reports, 2023-08, Vol.13 (1), p.12587-12587, Article 12587

2023

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

PloS one, 2019-07, Vol.14 (7), p.e0220634-e0220634

2019

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Genetic profile of a large Spanish cohort with hypercalcemia

Frontiers in endocrinology (Lausanne), 2024, Vol.15, p.1297614-1297614

2024

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

Frontiers in endocrinology (Lausanne), 2020-07, Vol.11, p.433-433

2020

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

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1475-n/a

2020

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Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm

PloS one, 2013-09, Vol.8 (9), p.e74673

2013

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Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

Medicina clinica, 2023-11, Vol.161 (10), p.458

2023

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Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

Endocrinology, diabetes & metabolism case reports, 2018-12, Vol.2018 (1), p.1-5

2018

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

Pediatric nephrology (Berlin, West), 2021-10, Vol.36 (10), p.3133-3142

2021

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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

PloS one, 2020-09, Vol.15 (9), p.e0239965-e0239965

2020

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

Scientific reports, 2021-02, Vol.11 (1), p.3016-3016, Article 3016

2021

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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, 2020-07, Vol.105 (7), p.e2687-e2688

2020

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

Nefrología, 2021-07, Vol.41 (4), p.383-390

2021

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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, 2020-04, Vol.105 (4), p.1112-1118

2020

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

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2021-07

2021

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

Nefrología, 2021-07, Vol.41 (4), p.383-390

2021

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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, 2019-06, Vol.12 (3), p.373-379

2019

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

Circulation. Genomic and precision medicine, 2024-04, Vol.17 (2)

2024

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Signification of distal urinary acidification defects in hypocitraturic patients

PloS one, 2017-05, Vol.12 (5), p.e0177329-e0177329

2017

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Hipercalcemia hipocalciúrica familiar: caracterización bioquímica y genética de una familia

Medicina clínica, 2021-05, Vol.156 (10), p.525-526

2021

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Diabetes insípida central familiar

Medicina clínica, 2020-12, Vol.155 (12), p.559-560

2020

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Hipercalcemia en pacientes con mutación en NR3C2 y SCNN1B

Medicina clínica, 2023-11, Vol.161 (10), p.458-459

2023

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Familial central diabetes insipidus

Medicina clinica, 2020-12, Vol.155 (12), p.559

2020

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

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

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

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

Genetic profile of a large Spanish cohort with hypercalcemia

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

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

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm

Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

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

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

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

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

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

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

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

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

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

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

Signification of distal urinary acidification defects in hypocitraturic patients

Hipercalcemia hipocalciúrica familiar: caracterización bioquímica y genética de una familia

Diabetes insípida central familiar

Hipercalcemia en pacientes con mutación en NR3C2 y SCNN1B

Familial central diabetes insipidus

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