Publicações
Título: Calf skinfold measurements as a diagnostic tool for lipodystrophy syndromes: a cross-sectional study
Autor: Lima et al.
Link: https://dmsjournal.biomedcentral.com/articles/10.1186/s13098-025-01934-y
Título: Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy
Autor: Valerio et al.
Link: https://dmsjournal.biomedcentral.com/articles/10.1186/s13098-025-01733-5
Título: Metabolic Profile In Familial Partial Lipodystrophy Type 3: Case Series Of A Family
Autor: Souza et al.
Título: Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women
Autor: Veras et al.
Link: https://dmsjournal.biomedcentral.com/articles/10.1186/s13098-024-01413-w
Título: A rapid action plan to improve diagnosis and management of lipodystrophy syndromes
Autor: Fourman et al.
Link: https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1383318/full
Título: Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study
Autor: Guidorizzi et al.
Link: https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1359211/full
Título: Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2
Autor: Freire et al.
Título: Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy
Autor: Valerio et al.
Link: https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1359025/full
Título: Brow adipose tissue (BAT) in lipodystrophies: comparison with obesity and eutrophy
Autor: Martelli et al.
Link: https://www.embase.com/records?subaction=viewrecord&id=L644484336
Título: Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases
Autor: Morguetti et al.
Título: Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA
Autor: Franco et al.
Título: Alterações Ecocardiográficas da Geometria e da Função Cardíaca em Pacientes com Lipodistrofia Familiar Parcial
Autor: Romano et al.
Título: Analysis of Clinical and Laboratory Parameters of Different Subtypes of Familial Partial Lipodistrophy
Autor: Veras et al.
Título: Plasma signatures of Congenital Generalized Lipodystrophy patients identified by untargeted lipidomic profiling are not changed after a fat-containing breakfast meal
Autor: Araújo et al.
Título: Diverse genotypes and phenotypes cohort of Brazilian patients with a large familial partial lipodystrophy (FPLD)
Autor: Valério et al.
Link: https://www.postersessiononline.eu/173580348_eu/congresos/ECO2023/aula/-PO4_167_ECO2023.pdf
Título: Identifying congenital generalized lipodystrophy using deep learning DEEPLIPO
Autor: Olegário et al.
Título: Identifying congenital generalized lipodystrophy using deep learning‐DEEPLIPO
Autor: Olegario et al.
Título: Are the current thigh skinfold cut-off points for lipodystrophy screening suitable for the Brazilian population?
Autor: Montenegro Júnior et al.
Link: https://www.postersessiononline.eu/173580348_eu/congresos/ECO2023/aula/-PO4_65_ECO2023.pdf
Título: DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies
Autor: Campos et al.
Título: Achados incomuns de ressonância magnética de lesões ósseas císticas na lipodistrofia generalizada congênita
Autor: Oliveira et al.
Título: Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy
Autor: Montenegro Júnior et al.
Título: Impaired functional exercise capacity and greater cardiovascular response to the 6 min walk test in congenital generalized lipodystrophy
Autor: Medeiros et al.
Título: Coronary arterial calcification in patients with congenital generalised lipodystrophy: A case series
Autor: Feijó et al.
Título: Evaluation of ultrasound measurements of abdominal fat for the prediction of gestational diabetes in the first and second trimesters of pregnancy
Autor: Benevides et al.
Título: Cardiovascular Risk, Obesity, and Sociodemographic Indicators in a Brazilian Population
Autor: Moreira et al.
Link: https://www.frontiersin.org/journals/public-health/articles/10.3389/fpubh.2021.725009/full
Título: Bone Mineral Density in Congenital Generalized Lipodystrophy: The Role of Bone Marrow Tissue, Adipokines, and Insulin Resistance
Autor: Freire et al.
Título: Misdiagnosis of Paget’s Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report
Autor: Freire et al.
Título: SARS COV 2 infection outcomes in patients with congenital generalized lipodystrophy
Autor: Madeira et al.
Título: Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies
Autor: Melo et al.
Título: A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) Gene in a Woman with Familial Partial Lipodystrophy
Autor: Wanderley et al.
Título: Race/ethnicity and challenges for optimal insulin therapy
Autor: Moreira et al.
Link: https://linkinghub.elsevier.com/retrieve/pii/S0168-8227(21)00182-0
Título: Altered acylated ghrelin response to food intake in congenital generalized lipodystrophy
Autor: Araújo et al.
Título: Targeted massively parallel sequencing for congenital generalized lipodystrophy
Autor: Costa-Riquetto et al.
Título: 1745-P: High Prevalence of Thyroid Abnormalities in Patients with Congenital Generalized Lipodystrophy
Autor: Fernandes et al.
Título: Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications
Autor: Montenegro Júnior et al.
Título: Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2
Autor: Sarmento et al.
Título: Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy
Autor: Liberato et al.
Título: Glycated Hemoglobin in the Diagnosis of Diabetes Mellitus in a Semi-Urban Brazilian Population
Autor: Moreira et al.
Título: Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy
Autor: Ponte et al.
Título: Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands
Autor: Montenegro Júnior et al.
Título: Acquired Lipodystrophy Associated With Nivolumab in a Patient With Advanced Renal Cell Carcinoma
Autor: Falcão et al.
Título: Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy
Autor: Lima et al.
Título: Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy
Autor: Elias et al.
Título: Cardiovascular risk in individuals with congenital generalized lipodystrophy through calcium coronary score
Autor: Feijó et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L629759429
Título: Nutritional status of zinc and magnesium in patients with congenital generalized lipodystrophy
Autor: Lopes et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L629760217
Título: Evaluation of Oxidative Stress Markers and their Correlation with Respiratory Muscle Strength in Congenital Generalized Lipodystrophy
Autor: Campos et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L630917843
Título: Evaluation of comorbidities and clinical outcomes of nine patients with lipodystrophy treated in an university hospital
Autor: Oliveira et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L629759758
Título: Pancreatic fat deposition is increased and related to beta cell function in women with familial partial lipodystrophy
Autor: Godoy-Matos et al.
Título: Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects
Autor: Medeiros et al.
Título: Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred
Autor: Montenegro Júnior et al.
Link: https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2018.00458/full
Título: Insulin resistance, cardiovascular autonomic neuropathy, and left ventricular hypertrophy in patients with congenital generalized lipodystrophy
Autor: Fernandes et al.
Título: Sleep disorders in patients with congenital generalized lipodystrophy
Autor: Fernandes et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=3&page=1&id=L623567802
Título: Causes of death in patients with Berardinelli- Seip congenital generalized lipodystrophy
Autor: Lima et al.
Título: Case Report of Acquired Generalized Lipodystrophy Associated With Common Variable Immunodeficiency
Autor: Halpern, Nery e Pereira
Título: Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients
Autor: Lima et al.
Título: Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type
Autor: Foss-Freitas et al.
Título: Experiência de pessoas que vivem com a Síndrome de Berardinelli-Seip no Nordeste brasileiro
Autor: Damasceno et al.
Título: Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast
Autor: Damasceno et al.
Título: Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy
Autor: Ponte et al.
Título: SGLT2 inhibitors effect on fatty liver disease in patients with Berardinelli-Seip lipodystrophy
Autor: Parente et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=2&page=1&id=L624031182
Título: Subclinical ventricular dysfunction in young population with congenital generalised lipodystrophy detected by speckle-tracking echocardiography
Autor: Fernandes et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L624031894
Título: Evaluation of respiratory muscle strength and balance in Berardinelli-Seip congenital lipodystrophy (BSCL) patients from Brazil
Autor: Campos et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L626625358
Título: Achados oftalmológicos na lipodistrofia generalizada congênita-um possível marcador de distúrbios metabólicos
Autor: Fernandes et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L623565822
Título: Diabetes mellitus evolution in two brothers with berardinelli-seip congenital lipodystrophy (BSCL), one R
Autor: Oliveira et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L621966131
Título: Thyroid dysfunction and insulin resistance in patients with congenital generalized lipodystrophy
Autor: Lima et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=10&page=1&id=L621966207
Título: Assessment of food intake of patients with congenital generalized lipodystrophy in relation to the guidelines of brazilian diabetes society
Autor: Albuquerque et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L621966385
Título: High doses of insulin in children with congenital generalized lipodistrophy (CGL) and serious insulin resistance
Autor: Martins et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L621966533
Título: Glucocorticoid sensitivity might underlie metabolic abnormalities in patients with familial partial lipodystrophy type 2
Autor: Resende et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L621966406
Título: DDP4 inhibitor activity in partial family lipodystrophy-case report
Autor: Muto, Pádua
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L621966507
Título: A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p. T10I Mutation
Autor: Hussain et al.
Título: High prevalence of Berardinelli Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil
Autor: Medeiros et al.
Título: Normal Bone Density and Trabecular Bone Score, but High Serum Sclerostin in Congenital Generalized Lipodystropy
Autor: Lima et al.
Título: Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2
Autor: Valerio et al.
Link: https://dmsjournal.biomedcentral.com/articles/10.1186/s13098-017-0226-0
Título: Early results of the first Brazilian patients with generalised congenital lipodystrophy on treatment with metreleptin
Autor: Lima et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L618051702
Título: Severe metabolic abnormalities observed in patients with confirmed diagnosis of congenital generalized lipodystrophy including AGPAT2 and BSCL2 mutations
Autor: Montenegro Júnior et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L623677857
Título: Evaluation of the presence of steatosis and fibrosis in lipodystrophic with diabetes type 2 patients using transient elastography and comparison with anthropometric and densitometric parameters
Autor: De Franca et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L618937190
Título: Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy
Autor: Lima et al.
Título: High prevalence of cardiovascular autonomic neuropathy in young patients with congenital generalised lipodystrophy (Berardinelli-Seip Syndrome)
Autor: Ponte et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L612313333
Título: Hepatic elastography, metabolic profile and body composition of four patients with berardinelli-seip lipodystrophy
Autor: Schnoll et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L613519719
Título: Congenital lipoatrophy diabetes syndromes: Basal metabolism and thyroid function
Autor: Filho et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L613523034
Título: Precocious endothelial dysfunction in patients with congenital generalized lipodystrophy evaluated by two different methods
Autor: Fernandes et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L620237207
Título: A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma
Autor: Patni et al.
Título: Evaluation of epicardial adipose tissue in familial partial lipodystrophy
Autor: Godoy-Matos et al.
Link: https://dmsjournal.biomedcentral.com/articles/10.1186/s13098-015-0024-5
Título: Clinical and laboratory characteristics of 14 patients with Berardinelli-Seip syndrome
Autor: Montenegro Júnior et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=3&page=1&id=L72030936
Título: Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome
Autor: Schnoll et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L615888307
Título: Detection of congenital generalized lipodystrophy mutations by nextgeneration sequencing: Time for a new approach
Autor: Riquetto et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L615888321
Título: 25Hydroxy-Vitamin D status in patients with berardinelli-seip syndrome (congenital generalized lipodystrophy)
Autor: Karbage et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L615888339
Título: Precocious endothelial dysfunction in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) evaluated by two different methods
Autor: Fernandes et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L615888356
Título: Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome
Autor: Baracho et al.
Título: Do you know this syndrome? Berardinelli–Seip syndrome
Autor: Machado et al.
Título: Bezafibrato em lactente portador de lipodistrofia generalizada congênita e hipertrigliceridemia grave
Autor: Araújo, Ramos, Borges
Título: A new seipin-assoated neurodegenerative syndrome
Autor: Guillén-Navarro et al.
Título: A New Method for Body Fat Evaluation, Body Adiposity Index, Is Useful in Women With Familial Partial Lipodystrophy
Autor: Godoy-Matos et al.
Link: https://onlinelibrary.wiley.com/doi/10.1038/oby.2011.343
Título: Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations
Autor: Mory et al
Título: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation
Autor: Valerio et al.
Link: https://dmsjournal.biomedcentral.com/articles/10.1186/1758-5996-4-40
Título: Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
Autor: Monteiro et al
Título: Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome
Autor: Santos et al.
Título: Association of PPAR-gamma2 polymorphism on lipid profile in berardinelli-seip syndrome
Autor: Baracho et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L70948814
Título: Prevalence of berardinelli-seip syndrome in the Northeast Brazil: A molecular approach
Autor: Medeiros et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=1&page=1&id=L71191697
Título: Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series
Autor: Godoy-Matos et al.
Título: Síndrome de Berardinelli- Seip: descrição genética e metabólica de cinco pacientes
Autor: Barra et al.
Título: Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes
Autor: Barra et al.
Título: Do You Know This Syndrome?
Autor: Santos et al.
Link: https://www.scielo.br/j/abd/a/NNhd5VxZxXB9yzTcNv448pJ/?format=pdf&lang=en
Título: Effect of Diet Intervention and Oral ZincSupplementation on Metabolic Control in Berardinelli-Seip Syndrome
Autor: Rocha et al.
Título: Cardiometabolic Abnormalities in Patients with Berardinelli-Seip Syndrome
Autor: Rêgo et al.
Título: Bone mineral density in berardinelli-seip congenital lipodystrophy
Autor: Oliveira-Filho, Medeiros, Nunes
Link: https://www.embase.com/records?subaction=viewrecord&rid=7&page=1&id=L70225845
Título: Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli–Seip congenital generalized lipodystrophy syndrome
Autor: Miranda et al.
Título: Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)
Autor: Faria et al.
Título: Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)
Autor: Faria et al.
Título: Metabolic syndrome, an important issue in patients with congenital generalized lipodystrophy
Autor: Rego et al.
Link: https://www.embase.com/records?subaction=viewrecord&rid=2&page=1&id=L70355661
Título: Atypical Generalized Lipoatrophy and Severe Insulin Resistance due to a Heterozygous LMNA p.T10I Mutation
Autor: Mory et al.
Título: Berardinelli syndrome. A case report with fatal outcom
Autor: Daher et al.
Link: http://ve.scielo.org/scielo.php?script=sci_arttext&pid=S0535-51332008000200011
Título: Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
Autor: Kim et al.
Título: Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
Autor: Kim et al.
Título: High bone mass associated with berardinelli lipodystrophy
Autor: Bandeira et al.
Título: Dual-Energy X-Ray Absorptiometry Study of Body Composition in Patients With Lipodystrophy
Autor: Valério et al.
Título: Founder Effect of the 669insA Mutation in BSCL2 Gene Causing Berardinelli-Seip Congenital Lipodystrophy in a Cluster from Brazil
Autor: Gomes et al.
Título: Dental and periodontal alterations in Berardinelli-Seip syndrome
Autor: Lima et al.
Título: Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients
Autor: Gomes et al.
Título: Generalized congenital lipodystrophy: correlation with leptin and other biochemical parameters
Autor: Santos et al.
Título: Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects
Autor: Fu et al.
Título: Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil
Autor: Gomes et al.
Título: Triglyceride-induced Diabetes Mellitus in Congenital Generalized Lipodystrophy
Autor: Montenegro Júnior et al.
Título: Cardiac Involvement in Total Generalized Lipodystrophy (Berardinelli- Seip Syndrome)
Autor: Viégas et al.
Título: Uncommon alleleinAPO AI.CIII.AIV gene cluster ina family with congenital generalized Iipodystrophy
Autor: Novak et al.