Publicaciones en colaboración con investigadores/as de Hospital Universitario de Guadalajara (5)

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

    Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280

  2. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2008

  1. Colelitiasis como causa infrecuente de dolor abdominal en el niño

    Revista Espanola de Pediatria, Vol. 64, Núm. 4, pp. 286-288

  2. Lactante con hepatoesplenomegalia y alteraciones óseas

    Revista Espanola de Pediatria, Vol. 64, Núm. 4, pp. 292-294