Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (33)

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. 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

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. 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

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

2012

  1. Respuesta a «talla baja idiopática»

    Anales de Pediatria

2011

  1. Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes

    PLoS ONE, Vol. 6, Núm. 4

  2. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

  3. Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis

    Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188

2010

  1. Leydig cell testicular tumour presenting as isosexual precocious pseudopuberty in a 5 year-old boy with no palpable testicular mass

    Clinical Pediatric Endocrinology, Vol. 19, Núm. 1, pp. 19-23

2008

  1. Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

    European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249

  2. Predictors of the persistence of childhood asthma

    Allergologia et Immunopathologia, Vol. 36, Núm. 2, pp. 66-71

  3. Relevance of herniography for accurate diagnosis of patent processus vaginalis in cryptorchidism

    International Braz J Urol, Vol. 34, Núm. 1, pp. 57-62

2007

  1. Hipoglucemia neonatal

    Anales de Pediatria

2006

  1. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

    Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336

  2. Idiopathic short stature: Definition and treatment

    Anales de Pediatria, Vol. 64, Núm. 4, pp. 360-364