Pediatría
Departamento
Centro de Investigacion Biomedica en Red de Diabetes y Enfermedades Metabolicas Asociadas
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Centro de Investigacion Biomedica en Red de Diabetes y Enfermedades Metabolicas Asociadas (48)
2024
2023
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Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1
Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
PloS one, Vol. 18, Núm. 7, pp. e0287515
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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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SHORT syndrome: A good case can break an old acronym
Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 3, pp. 220-222
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Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene
Biology of Sex Differences, Vol. 14, Núm. 1
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Two-Sample Mendelian Randomization detects bidirectional causality between gut microbiota and celiac disease in individuals with high genetic risk
Frontiers in immunology, Vol. 14, pp. 1082862
2022
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Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells
Gut, Vol. 71, Núm. 1, pp. 68-77
2021
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A Novel Noninvasive Method Based on Salivary Inflammatory Biomarkers for the Screening of Celiac Disease
Cellular and Molecular Gastroenterology and Hepatology
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A systematic two-sample mendelian randomization analysis identifies shared genetic origin of endometriosis and associated phenotypes
Life, Vol. 11, Núm. 1, pp. 1-12
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Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family
Medicina Clinica
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Genetic contribution of endometriosis to the risk of developing hormone-related cancers
International Journal of Molecular Sciences, Vol. 22, Núm. 11
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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
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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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Familial central diabetes insipidus
Medicina Clinica, Vol. 155, Núm. 12, pp. 559-560
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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
2019
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Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
PLoS ONE, Vol. 14, Núm. 7
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The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region
Scientific Reports, Vol. 9, Núm. 1
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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