Publicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (10)

2022

  1. Achondroplasia: Update on diagnosis, follow-up and treatment

    Anales de Pediatria, Vol. 97, Núm. 6, pp. 423-423.e10

  2. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

    International Journal of Molecular Sciences, Vol. 23, Núm. 15

  3. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2015

  1. Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

    Medicina Clinica, Vol. 144, Núm. 2, pp. 67-72

2014

  1. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Human Molecular Genetics, Vol. 23, Núm. 11, pp. 2888-2900

2012

  1. Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

    Revista Espanola de Cardiologia, Vol. 65, Núm. 5, pp. 447-455

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

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

  2. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

    Journal of Medical Genetics, Vol. 47, Núm. 9, pp. 640-642