Publications by the researcher in collaboration with Lourdes Loidi (31)

2024

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

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

  2. 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

  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

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. Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant

    BMC Genetics, Vol. 11

  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

2009

  1. Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

    Human mutation, Vol. 30, Núm. 2

2008

  1. 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

  2. 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

  3. 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

2007

  1. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

    Clinical Chemistry, Vol. 53, Núm. 9, pp. 1577-1584

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

  2. Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein

    Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548

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