SOFIA
SANCHEZ IGLESIAS
Profesora ayudante doctora
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (15)
2023
2022
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Lipodystrophy-associated progeroid syndromes
Hormones, Vol. 21, Núm. 4, pp. 555-571
2021
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Celia’s encephalopathy (Bscl2-gene-related): Current understanding
Journal of Clinical Medicine, Vol. 10, Núm. 7
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Familial partial lipodystrophy syndromes
Presse Medicale
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Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant
Journal of Clinical Medicine, Vol. 10, Núm. 7
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Variable expressivity in type 2 familial partial lipodystrophy related to r482 and n466 variants in the lmna gene
Journal of Clinical Medicine, Vol. 10, Núm. 6, pp. 1-9
2020
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LipoDDx: A mobile application for identification of rare lipodystrophy syndromes
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2018
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Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy
European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406
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Bone mineral density in familial partial lipodystrophy
Clinical Endocrinology, Vol. 88, Núm. 1, pp. 44-50
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Inflammatory myopathy in the context of an unusual overlapping laminopathy
Archives of Endocrinology and Metabolism, Vol. 62, Núm. 3, pp. 376-382
2017
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Acantosis nigricans in severe insulin resistance syndromes
Anales de Pediatria, Vol. 86, Núm. 3, pp. 166-168
2016
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Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome
Endocrine, Vol. 54, Núm. 2, pp. 411-421
2015
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Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience
Endocrine, Vol. 49, Núm. 1, pp. 139-147
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Síndromes lipodistróficos infrecuentes
Medicina Clinica, Vol. 144, Núm. 2, pp. 80-87
2013
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A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409