Publicaciones (137) Publicaciones de GUIOMAR PEREZ DE NANCLARES LEAL

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

    Revista Espanola de Patologia

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

    Frontiers in Genetics, Vol. 14

  6. 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

  7. Nutrition recommendations for patients with pseudohypoparathyroidism

    Anales de Pediatria

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

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

  9. 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

  10. 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

  11. 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

  2. Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease

    Neurology, Vol. 98, Núm. 14, pp. e1434-e1445

  3. Congenital cutaneous ossification

    Journal of Paediatrics and Child Health

  4. Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

    Journal of Neurology, Vol. 269, Núm. 8, pp. 4253-4263

  5. Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?

    Revista Espanola de Patologia, Vol. 55, pp. S16-S20

  6. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366