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Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations
(Bioscientifica Ltd, 2012-09-01)
Objective: Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies. ...
Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
(Universidade Federal do Rio Grande do NorteBrasilUFRNBiomedicinaCentro de Biociências, 2023)
Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type
(BioMed Central, 2018)
Abstract
Background
Familial partial lipodystrophy of the Dunnigan type is one of the most common inherited lipodystrophies variables. These individuals have important ...
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation
(Biomed Central Ltd, 2012-08-31)
Background: Familial partial lipodystrophies (FPLD) are clinically heterogeneous disorders characterized by selective loss of adipose tissue, insulin resistance and metabolic complications. Until genetic studies become ...
A New Method for Body Fat Evaluation, Body Adiposity Index, Is Useful in Women With Familial Partial Lipodystrophy
(Nature Publishing Group, 2012-02-01)
BMI is a widely used method to evaluate adiposity. However, it has several limitations, particularly an inability to differentiate lean from fat mass. A new method, body adiposity index (BAI), has been recently proposed ...
Avaliação bioquímica, hormonal e genética das famílias de duas pacientes brasileiras portadoras de lipodistrofia parcial familiar tipo 2 (Artigo parcialmente retratado)Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy (Partially pictured article)
(Sociedade Brasileira de Endocrinologia e Metabologia, 2019)
O gene LMNA como precursor da Síndrome de Dunnigan: uma análise molecular e de bioinformáticaThe LMNA gene as precursor of Dunnigan Syndrome: a molecular and bioinformatics analysis
(Universidade Federal do Rio Grande do NorteBrasilUFRNBiomedicina, 2022)
Relação entre tecido adiposo e autofagia na obesidade e em lipodistrofias congênitas: uma revisão de literatura
(Universidade Federal do Rio Grande do NorteBrasilUFRNBiomedicinaCentro de Biociências, 2023)