Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (32)

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

  4. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia

    New England Journal of Medicine, Vol. 391, Núm. 6, pp. 493-503

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

  2. Paciente con insuficiencia suprarrenal por mutación de novo en el gen NR0B1

    Advances in Laboratory Medicine, Vol. 4, Núm. 2, pp. 199-202

  3. Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

    Advances in Laboratory Medicine, Vol. 4, Núm. 2, pp. 195-198

  4. Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency

    Journal of clinical research in pediatric endocrinology, Vol. 15, Núm. 2, pp. 205-209

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. Intralymphatic GAD-Alum (Diamyd®) Improves Glycemic Control in Type 1 Diabetes With HLA DR3-DQ2

    Journal of Clinical Endocrinology and Metabolism, Vol. 107, Núm. 9, pp. 2644-2651

  3. 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. Diagnostic accuracy of the tri-ponderal mass index in identifying the unhealthy metabolic obese phenotype in obese patients

    Anales de Pediatria, Vol. 94, Núm. 2, pp. 68-74

  2. Growth hormone treatment and papilledema: A prospective pilot study

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 13, Núm. 2, pp. 146-151

  3. Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)

    American Journal of Cardiology, Vol. 157, pp. 128-134

  4. 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

  5. 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

2020

  1. Graves disease with negative TSH receptor antibodies: A presentation of 5 cases

    Anales de Pediatria, Vol. 93, Núm. 6, pp. 417-419

2017

  1. Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature

    European Journal of Medical Genetics, Vol. 60, Núm. 10, pp. 517-520

  2. Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia

    Anales de Pediatria, Vol. 87, Núm. 2, pp. 116.e1-116.e10

2014

  1. The role of leptin in diencephalic syndrome

    Pediatrics, Vol. 133, Núm. 1