Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (10)

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2019

  1. Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 8, pp. 1591-1597

  2. Prorepair-B: A prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer

    Journal of Clinical Oncology, Vol. 37, Núm. 6, pp. 490-503

  3. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

    Journal of Experimental Medicine, Vol. 216, Núm. 2, pp. 407-418

2018

  1. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

  2. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review

    Clinical Genetics, Vol. 93, Núm. 4, pp. 762-775

2017

  1. The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

    Scientific Reports, Vol. 7

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

2013

  1. Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

    Gene, Vol. 519, Núm. 1, pp. 169-172

2011

  1. Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype

    American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301