Argitalpenak (148) GUIOMAR PEREZ DE NANCLARES LEAL argitalpenak Ikerketa datu erreferentziatuak ikusi.

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2025

  1. Asesoramiento genético en la era de la secuenciación masiva

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 102, Núm. 1

  2. Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes

    European Journal of Endocrinology, Vol. 192, Núm. 4, pp. 364-372

  3. Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back

    Revista Espanola de Patologia, Vol. 58, Núm. 3

  4. PIK3R1 and G0S2 are human placenta-specific imprinted genes associated with germline-inherited maternal DNA methylation

    Epigenetics, Vol. 20, Núm. 1

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. Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)

    Frontiers in Endocrinology, Vol. 15

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

    Frontiers in Endocrinology, Vol. 13

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

    Frontiers in Genetics, Vol. 14

  5. 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

  6. Nutrition recommendations for patients with pseudohypoparathyroidism

    Anales de Pediatria

  7. 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

  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