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Lourdes
Loidi
Publicacións nas que colabora con Lourdes Loidi (30)
2024
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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
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Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Frontiers in Endocrinology, Vol. 14
2021
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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
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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
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Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Case Reports in Endocrinology, Vol. 2019
2013
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A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409
2010
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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
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Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant
BMC Genetics, Vol. 11
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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
2008
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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
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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
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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
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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
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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
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Genetic basis of short stature
Journal of Endocrinological Investigation
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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
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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
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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
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Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome
Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045