GUIOMAR
PEREZ DE NANCLARES LEAL
IRAKASLE ELKARTUA
Argitalpenak (141) GUIOMAR PEREZ DE NANCLARES LEAL argitalpenak
2024
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A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions
Nature Communications, Vol. 15, Núm. 1
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Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)
Genes, Vol. 15, Núm. 1
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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
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The Human Phenotype Ontology in 2024: phenotypes around the world
Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346
2023
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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
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C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia
Journal of Personalized Medicine, Vol. 13, Núm. 9
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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2
Frontiers in Endocrinology, Vol. 13
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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Frontiers in Genetics, Vol. 14
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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
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Nutrition recommendations for patients with pseudohypoparathyroidism
Anales de Pediatria
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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
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TSH elevation in neonatal screening as the first manifestation of other associated diseases
Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 297-299
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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
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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
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Vitamin D deficiency in adulthood: Presentation of 2 familial cases simulating pseudohypoparathyroidism
Medicina Clinica, Vol. 161, Núm. 11, pp. 493-497
2022
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Albright's hereditary osteodystrophy: an entity to recognize
Rheumatology (Oxford, England), Vol. 61, Núm. 11, pp. e356-e357
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Blood β-Synuclein and Neurofilament Light Chain During the Course of Prion Disease
Neurology, Vol. 98, Núm. 14, pp. e1434-e1445
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Congenital cutaneous ossification
Journal of Paediatrics and Child Health
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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
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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