Publicaciones (160) Publicaciones en las que ha participado algún/a investigador/a

2024

  1. A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions

    Nature Communications, Vol. 15, Núm. 1

  2. Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

    Genes, Vol. 15, Núm. 1

  3. Colonic adenomatous polyp with florid presence of monoclonal lambda Russell bodies: Case report and etiopathogenic hypothesis

    Revista Espanola de Patologia, Vol. 57, Núm. 2, pp. 111-115

  4. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

  5. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

  1. Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

    Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179

  2. C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia

    Journal of Personalized Medicine, Vol. 13, Núm. 9

  3. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  4. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

    Frontiers in Endocrinology, Vol. 13

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

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

  6. Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

    Frontiers in Genetics, Vol. 14

  7. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

  8. Nutrition recommendations for patients with pseudohypoparathyroidism

    Anales de Pediatria

  9. Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations

    European journal of endocrinology, Vol. 189, Núm. 1, pp. 123-131

  10. Recomendaciones nutricionales para pacientes con seudohipoparatiroidismo

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 99, Núm. 2, pp. 129-135

  11. TSH elevation in neonatal screening as the first manifestation of other associated diseases

    Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 297-299

  12. The enigma of Henry IV's disease: Did he suffer from McCune-Albright syndrome/fibrous dysplasia?

    Revista Espanola de Patologia, Vol. 56, Núm. 4, pp. 243-251

  13. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

  14. Vitamin D deficiency in adulthood: Presentation of 2 familial cases simulating pseudohypoparathyroidism

    Medicina Clinica, Vol. 161, Núm. 11, pp. 493-497

2022

  1. Albright's hereditary osteodystrophy: an entity to recognize

    Rheumatology (Oxford, England), Vol. 61, Núm. 11, pp. e356-e357