Publications by the researcher in collaboration with Lourdes Loidi Fernández (17)

2024

  1. A cohort analysis of familial partial lipodystrophy from two Mediterranean countries

    Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886

2023

  1. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

    Frontiers in Endocrinology, Vol. 14

2021

  1. 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

  2. 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

  1. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409

2011

  1. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

2010

  1. 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

  2. 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

  3. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy

    Diabetic Medicine, Vol. 27, Núm. 10, pp. 1178-1187

  4. 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

  1. 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

  1. 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

  1. Genetic basis of short stature

    Journal of Endocrinological Investigation

2004

  1. 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

  1. 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

  1. Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma

    Journal of Urology, Vol. 167, Núm. 6, pp. 2514-2515