Publicacións (109) Publicacións nas que participase algún/ha investigador/a

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  2. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2023

  1. Cost-effectiveness of somatrogon in the Spanish pediatric population with growth hormone deficiency

    Expert Review of Pharmacoeconomics and Outcomes Research, Vol. 23, Núm. 10, pp. 1139-1146

2019

  1. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. Hipocrecimiento armónico

    Manual de pediatría (Ergon), pp. 726-732

  3. Hipopituitarismo

    Manual de pediatría (Ergon), pp. 748-754

  4. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2018

  1. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

  2. Management guidelines for disorders / different sex development (DSD)

    Anales de Pediatria, Vol. 89, Núm. 5, pp. 315.e1-315.e19

  3. Ten years experience with the first approved biosimilar recombinant human growth hormone drug in normal clinical practice

    Anales de Pediatria, Vol. 88, Núm. 4, pp. 209-215

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

    Anales de Pediatria, Vol. 86, Núm. 3, pp. 166-168

  2. Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

    Hormones, Vol. 16, Núm. 2, pp. 194-199

  3. Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial

    Clinical Endocrinology, Vol. 87, Núm. 4, pp. 350-358

  4. Tratamiento con hormona de crecimiento en pequeños para la edad gestacional en España

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 86, Núm. 5, pp. 249-254

  5. Tratamiento con hormona de crecimiento en pequeños para la edad gestacional en España

    Anales de Pediatria, Vol. 86, Núm. 5, pp. 249-254

2016

  1. Changes in body mass index in girls with idiopathic central precocious puberty under gonadotropin-releasing hormone analogue therapy: The Spanish registry

    Hormone Research in Paediatrics, Vol. 86, Núm. 3, pp. 154-160

  2. El hombre que no entendía a las mujeres

    Santiago de Compostela : Ézaro, 2016

2015

  1. A cross-sectional study of cryptorchidism in children: Testicular volume and hormonal function at 18 years of age

    International Braz J Urol, Vol. 41, Núm. 1, pp. 57-66

  2. Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation

    Hormones, Vol. 14, Núm. 2, pp. 312-316

2014

  1. Hiperpituitarismo

    Tratado de pediatría (Editorial Médica Panamericana), pp. 1238-1243