Hospital Infantil Universitario Niño Jesus de Madrid -ko ikertzaileekin lankidetzan egindako argitalpenak (8)

2023

  1. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

2020

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

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

  2. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

  3. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2018

  1. Brachydactyly type C due to a nonsense mutation in the GDF5 gene

    Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109

  2. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

  3. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2012

  1. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 12