Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (7)

2015

  1. RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation

    European Journal of Endocrinology, Vol. 172, Núm. 3, pp. 301-307

2013

  1. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9

2012

  1. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 7

2010

  1. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

2006

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX-1 gene mutation

    HORMONE RESEARCH

1998

  1. A novel missense (R80W) mutation in 17-β-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism

    European Journal of Endocrinology, Vol. 139, Núm. 3, pp. 330-333