Pediatría
Departamento
MARIA SONIA
GAZTAMBIDE SAENZ
Investigador/a en el periodo 2009-2022
Publicaciones en las que colabora con MARIA SONIA GAZTAMBIDE SAENZ (44)
2024
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Genetic profile of a large Spanish cohort with hypercalcemia
Frontiers in Endocrinology, Vol. 15
2023
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Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346
2021
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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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Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain
Scientific Reports, Vol. 11, Núm. 1
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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Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: Results of the cohort di@bet.es study
BMJ Open Diabetes Research and Care, Vol. 8, Núm. 1
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Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study
Scientific Reports, Vol. 10, Núm. 1
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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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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Frontiers in Endocrinology, Vol. 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
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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Prevalence of diabetes mellitus and impaired glucose metabolism in the adult population of the Basque Country, Spain
Diabetic Medicine, Vol. 34, Núm. 5, pp. 662-666
2016
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El Registro Molecular de Adenomas Hipofisarios (REMAH): una apuesta de futuro de la Endocrinología española por la medicina individualizada y la investigación traslacional
Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 63, Núm. 6, pp. 274-284
2015
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Proyecto manejos integral en la DM tipo 1. Acuerdo en el manejo integral del paciente con diabetes mellit us tipo 1
Avances en diabetología, Vol. 31, Núm. 1, pp. 13-23
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RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation
European Journal of Endocrinology, Vol. 172, Núm. 3, pp. 301-307
2014
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Ambient temperature and prevalence of obesity in the spanish population: The di@bet.es study
Obesity, Vol. 22, Núm. 11, pp. 2328-2332
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Prevalence of plasma lipid abnormalities and its association with glucose metabolism in Spain: The di@bet.es study
Clínica e investigación en arteriosclerosis, Vol. 26, Núm. 3, pp. 107-114
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Prevalence of plasma lipid abnormalities and its association with glucose metabolism in Spain: The di@bet.es study
Clinica e Investigacion en Arteriosclerosis, Vol. 26, Núm. 3, pp. 107-114
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The efficiency of telemedicine to optimize metabolic control in patients with type 1 diabetes mellitus: Telemed study
Diabetes Technology and Therapeutics, Vol. 16, Núm. 7, pp. 435-441