Lourdes
Loidi Fernández
Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Universidade de Santiago de Compostela (34)
2024
-
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries
Diabetes, Obesity and Metabolism
-
Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases
Journal of Clinical Medicine, Vol. 13, Núm. 11
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
-
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy
Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136
-
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Case Reports in Endocrinology, Vol. 2019
2017
-
Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene
Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199
-
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome
Ophthalmic Genetics, Vol. 38, Núm. 3, pp. 277-280
2015
-
Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation
Hormones, Vol. 14, Núm. 2, pp. 312-316
2013
-
A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409
-
Determinants of Serum Concentrations of Lipopolysaccharide-Binding Protein (LBP) in the Adult Population: The Role of Obesity
PLoS ONE, Vol. 8, Núm. 1
2011
-
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
Pediatric Blood and Cancer, Vol. 56, Núm. 3, pp. 452-453
-
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
-
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
-
Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant
BMC Genetics, Vol. 11
-
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
-
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy
Diabetic Medicine, Vol. 27, Núm. 10, pp. 1178-1187
-
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
-
High frequency of copy number variations and sequence variants at CYP21A2 locus: Implication for the genetic diagnosis of 21-hydroxylase deficiency
PLoS ONE, Vol. 3, Núm. 5
-
Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249