Publicacións (54) Publicacións de Lourdes Loidi Fernández

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

  3. Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency

    Clinical and Experimental Dermatology, Vol. 49, Núm. 5, pp. 516-518

  4. Yao syndrome: a clinical observation of a non-paradigmatic autoinflammatory disease

    JDDG - Journal of the German Society of Dermatology

2023

  1. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

    Frontiers in Endocrinology, Vol. 14

  2. Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

    International Journal of Dermatology

2022

  1. GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma

    Cancers, Vol. 14, Núm. 13

  2. Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process

    Endocrine Pathology, Vol. 33, Núm. 4, pp. 484-493

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. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2018

  1. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138

2017

  1. 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

  2. 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

2016

  1. A Calcitonin Non-producing Neuroendocrine Tumor of the Thyroid Gland

    Endocrine Pathology, Vol. 27, Núm. 4, pp. 325-331

2015

  1. Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation

    Hormones, Vol. 14, Núm. 2, pp. 312-316

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409

  2. Determinants of Serum Concentrations of Lipopolysaccharide-Binding Protein (LBP) in the Adult Population: The Role of Obesity

    PLoS ONE, Vol. 8, Núm. 1

2012

  1. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

    American Journal of Human Genetics, Vol. 90, Núm. 1, pp. 25-39