Publications by the researcher in collaboration with Lourdes Loidi Fernández (10)

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. 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

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

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

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

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