Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
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Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaHospital Universitario Nuestra Señora de Candelaria -ko ikertzaileekin lankidetzan egindako argitalpenak (13)
2024
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
2021
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Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)
Orphanet Journal of Rare Diseases
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Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8
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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
2019
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Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia
Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
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
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
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RenalTube: A network tool for clinical and genetic diagnosis of primary tubulopathies
European Journal of Pediatrics, Vol. 172, Núm. 6, pp. 775-780
2010
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110