Publicacións nas que colabora con David Araujo Vilar (9)
2023
-
Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Frontiers in Endocrinology, Vol. 14
2021
-
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
-
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Case Reports in Endocrinology, Vol. 2019
2013
-
A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409
2010
-
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
-
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
-
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
-
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
-
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