Publicaciones en las que colabora con Lourdes Loidi Fernández (17)
2024
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A cohort analysis of familial partial lipodystrophy from two Mediterranean countries
Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886
2023
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Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Frontiers in Endocrinology, Vol. 14
2021
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Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort
Acta Ophthalmologica, Vol. 99, Núm. 7, pp. e1077-e1089
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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
2019
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Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Case Reports in Endocrinology, Vol. 2019
2013
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A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409
2011
2010
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Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788
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Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 5, pp. 2147-2154
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Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy
Diabetic Medicine, Vol. 27, Núm. 10, pp. 1178-1187
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The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 1, pp. 222-229
2008
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Pendred syndrome in two Galician families: Insights into clinical phenotypes through cellular, genetic, and molecular studies
Journal of Clinical Endocrinology and Metabolism, Vol. 93, Núm. 1, pp. 267-277
2006
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High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336
2005
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Genetic basis of short stature
Journal of Endocrinological Investigation
2004
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Therapeutic optimization of growth hormone deficiency in children and adolescents
Journal of Pediatric Endocrinology and Metabolism, Vol. 17, Núm. SUPPL. 3, pp. 401-410
2003
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Phenotypic gender differences in subjects with familial partial lipodystrophy (dunnigan variety) due to a nuclear lamin A/C R482W mutation
Hormone and Metabolic Research, Vol. 35, Núm. 1, pp. 29-35
2002
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Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma
Journal of Urology, Vol. 167, Núm. 6, pp. 2514-2515