Publicacións en colaboración con investigadores/as de Universitat Autònoma de Barcelona (36)

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

  2. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

    European journal of endocrinology, Vol. 189, Núm. 4, pp. 460-468

2022

  1. 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

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

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

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

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

  3. 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

  4. 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

  5. Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis

    Endocrine, Vol. 71, Núm. 3, pp. 586-594

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

2013

  1. Deficiencia de hormona de crecimiento (GH) en la edad pediátrica

    Revista Espanola de Pediatria, Vol. 69, Núm. 6, pp. 286-292

  2. Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset

    Hormone Research in Paediatrics, Vol. 79, Núm. 3, pp. 145-156

2012

  1. Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height

    Clinical Endocrinology, Vol. 77, Núm. 4, pp. 564-574

2011

  1. Characterization of novel StAR (Steroidogenic Acute Regulatory Protein) mutations causing non-classic lipoid adrenal hyperplasia

    PLoS ONE, Vol. 6, Núm. 5

  2. Children's experience on the move: Group treatment program of childhood obesity, a holistic way of approaching the problem

    Revista Espanola de Nutricion Humana y Dietetica, Vol. 15, Núm. 3, pp. 106-108

  3. Growth hormone secretory status evaluated by growth hormone peak after two pharmacological growth hormone release stimuli did not significantly influence the two-year catch-up growth induced by growth hormone therapy in 318 prepubertal short children with idiopathic growth retardation

    Hormone Research in Paediatrics, Vol. 75, Núm. 2, pp. 106-114