Publicacións en colaboración con investigadores/as de Vall d'Hebron Institut de Recerca (12)

2024

  1. Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene

    Frontiers in Endocrinology, Vol. 15

  2. Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR)

    International Journal of Molecular Sciences, Vol. 25, Núm. 18

  3. Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation

    International Journal of Molecular Sciences, Vol. 25, Núm. 15

2023

  1. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1316-e1328

2022

  1. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

    Frontiers in Endocrinology, Vol. 13

  2. A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

    Endocrine Connections, Vol. 11, Núm. 8

  3. Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 15

  4. Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

    Frontiers in Endocrinology, Vol. 13

2021

  1. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid

    The Journal of clinical endocrinology and metabolism, Vol. 106, Núm. 1, pp. e152-e170

  2. Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile

    Endocrinologia, Diabetes y Nutricion, Vol. 68, Núm. 9, pp. 612-620

2017

  1. Achievement of metabolic control among children and adolescents with type 1 diabetes in Spain

    Acta Diabetologica, Vol. 54, Núm. 7, pp. 677-683

  2. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

    Journal of Clinical Investigation, Vol. 127, Núm. 3, pp. 942-953