Ensino e Pesquisa – Hospitais Universitários UFC
Rua Coronel Nunes de Melo, SN, Rodolfo Teófilo
Fortaleza-CE.

cropped-LogoGlobo-e1715276973623.png

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.

Link: https://pmc.ncbi.nlm.nih.gov/articles/PMC11453507/

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.

Link: https://doi.org/10.3389/fendo.2024.1326700

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.

Link: https://doi.org/10.20945/2359-4292-2023-0204

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.

Link: https://doi.org/10.20945/2359-4292-2023-0084

Título: Alterações Ecocardiográficas da Geometria e da Função Cardíaca em Pacientes com Lipodistrofia Familiar Parcial

Autor: Romano et al.

Link: https://doi.org/10.36660/abc.20230442

Título: Analysis of Clinical and Laboratory Parameters of Different Subtypes of Familial Partial Lipodistrophy

Autor: Veras et al.

Link: https://doi.org/10.1093/clinchem/hvad097.202

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.

Link: https://doi.org/10.1016/j.plefa.2023.102584

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.

Link: https://doi.org/10.1038/s41598-023-27987-5

Título: Identifying congenital generalized lipodystrophy using deep learning‐DEEPLIPO

Autor: Olegario et al.

Link: https://www.nature.com/articles/s41598-023-27987-5

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.

Link: https://pubmed.ncbi.nlm.nih.gov/36354755/

Título: Achados incomuns de ressonância magnética de lesões ósseas císticas na lipodistrofia generalizada congênita

Autor: Oliveira et al.

Link: https://pmc.ncbi.nlm.nih.gov/articles/PMC9841538/

Título: Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy

Autor: Montenegro Júnior et al.

Link: https://doi.org/10.1186/s13098-022-00908-8

Título: Impaired functional exercise capacity and greater cardiovascular response to the 6 min walk test in congenital generalized lipodystrophy

Autor: Medeiros et al.

Link: https://doi.org/10.1186/s12872-022-02828-x

Título: Coronary arterial calcification in patients with congenital generalised lipodystrophy: A case series

Autor: Feijó et al.

Link: https://doi.org/10.1111/cen.14800

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.

Link: https://www.tandfonline.com/doi/10.1080/14767058.2022.2056441?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

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.

Link: https://www.mdpi.com/1660-4601/18/18/9724

Título: Misdiagnosis of Paget’s Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report

Autor: Freire et al.

Link: https://doi.org/10.3389/fendo.2021.683697

Título: SARS COV 2 infection outcomes in patients with congenital generalized lipodystrophy

Autor: Madeira et al.

Link: https://doi.org/10.1186/s13098-021-00680-1

Título: Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies

Autor: Melo et al.

Link: https://doi.org/10.1016/j.bbadis.2021.166120

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.

Link: https://doi.org/10.2337/db21-198-LB

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.

Link: https://doi.org/10.1371/journal.pone.0244667

Título: Targeted massively parallel sequencing for congenital generalized lipodystrophy

Autor: Costa-Riquetto et al.

Link: https://doi.org/10.20945/2359-3997000000278

Título: 1745-P: High Prevalence of Thyroid Abnormalities in Patients with Congenital Generalized Lipodystrophy

Autor: Fernandes et al.

Link: https://diabetesjournals.org/diabetes/article/69/Supplement_1/1745-P/56207/1745-P-High-Prevalence-of-Thyroid-Abnormalities-in

Título: Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Autor: Montenegro Júnior et al.

Link: https://doi.org/10.1186/s13098-020-00538-y

Título: Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2

Autor: Sarmento et al.

Link: https://doi.org/10.1016/j.bbalip.2020.158610

Título: Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy

Autor: Liberato et al.

Link: http://doi.org/10.2147/DMSO.S233667

Título: Glycated Hemoglobin in the Diagnosis of Diabetes Mellitus in a Semi-Urban Brazilian Population

Autor: Moreira et al.

Link: https://www.mdpi.com/1660-4601/16/19/3598

Título: Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy

Autor: Ponte et al.

Link: https://doi.org/10.1186/s13098-019-0444-8

Título: Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands

Autor: Montenegro Júnior et al.

Link: https://doi.org/10.1016/j.jpeds.2018.11.030

Título: Acquired Lipodystrophy Associated With Nivolumab in a Patient With Advanced Renal Cell Carcinoma

Autor: Falcão et al.

Link: https://doi.org/10.1210/jc.2018-02221

Título: Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy

Autor: Lima et al.

Link: https://doi.org/10.20945/2359-3997000000096

Título: Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy

Autor: Elias et al.

Link: https://doi.org/10.1186/s13098-018-0396-4

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.

Link: https://doi.org/10.1186/s13098-018-0375-9

Título: Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

Autor: Medeiros et al.

Link: https://doi.org/10.1186/s12931-018-0879-8

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.

Link: https://doi.org/10.2337/db18-585-P

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.

Link: https://doi.org/10.1371/journal.pone.0199052

Título: Case Report of Acquired Generalized Lipodystrophy Associated With Common Variable Immunodeficiency

Autor: Halpern, Nery e Pereira

Link: https://doi.org/10.1210/jc.2018-00494

Título: Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients

Autor: Lima et al.

Link: https://doi.org/10.1016/j.jocd.2016.10.002

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.

Link: https://doi.org/10.1186/s13098-017-0301-6

Título: Experiência de pessoas que vivem com a Síndrome de Berardinelli-Seip no Nordeste brasileiro

Autor: Damasceno et al.

Link: https://doi.org/10.1590/1413-81232018232.16802017

Título: Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast

Autor: Damasceno et al.

Link: https://doi.org/10.1590/1413-81232018232.16802017

Título: Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy

Autor: Ponte et al.

Link: https://doi.org/10.1186/s12872-017-0738-4

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.

Link: https://pmc.ncbi.nlm.nih.gov/articles/PMC6283411/

Título: High prevalence of Berardinelli Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil

Autor: Medeiros et al.

Link: https://doi.org/10.1186/s13098-017-0280-7

Título: Normal Bone Density and Trabecular Bone Score, but High Serum Sclerostin in Congenital Generalized Lipodystropy

Autor: Lima et al.

Link: https://doi.org/10.1016/j.bone.2017.03.053

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.

Link: https://doi.org/10.1186/s13098-016-0140-x

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.

Link: https://pmc.ncbi.nlm.nih.gov/articles/PMC4596037/

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.

Link: https://doi.org/10.1159/000366026

Título: Do you know this syndrome? Berardinelli–Seip syndrome

Autor: Machado et al.

Link: http://dx.doi.org/10.1590/abd1806-4841.20132178

Título: Bezafibrato em lactente portador de lipodistrofia generalizada congênita e hipertrigliceridemia grave

Autor: Araújo, Ramos, Borges

Link: https://doi.org/10.1590/S0004-27302013000800012

Título: A new seipin-assoated neurodegenerative syndrome

Autor: Guillén-Navarro et al.

Link: https://pubmed.ncbi.nlm.nih.gov/23564749/

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

Link: https://academic.oup.com/ejendo/article-abstract/167/3/423/6659589?redirectedFrom=fulltext&login=false

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

Link: https://journals.lww.com/indjem/fulltext/2012/16010/body_fat_distribution_in_women_with_familial.21.aspx

Título: Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome

Autor: Santos et al.

Link: dx.doi.org/10.1016/j.jtemb.2011.11.002

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.

Link: https://doi.org/10.1590/s0004-27302011000400007

Título: Síndrome de Berardinelli- Seip: descrição genética e metabólica de cinco pacientes

Autor: Barra et al.

Link: https://doi.org/10.1590/S0004-27302011000100007

Título: Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes

Autor: Barra et al.

Link: https://doi.org/10.1590/S0004-27302011000100007

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.

Link: https://doi.org/10.1159/000313932

Título: Cardiometabolic Abnormalities in Patients with Berardinelli-Seip Syndrome

Autor: Rêgo et al.

Link: https://doi.org/10.1590/s0066-782x2010000100017

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.

Link: https://doi.org/10.1111/j.1365-2265.2009.03532.x

Título: Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)

Autor: Faria et al.

Link: https://doi.org/10.1093/europace/eup095

Título: Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)

Autor: Faria et al.

Link: https://doi.org/10.1093/europace/eup095

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.

Link: https://doi.org/10.1590/s0004-27302008000800008

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.

Link: https://doi.org/10.1210/jc.2007-1328

Título: Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

Autor: Kim et al.

Link: https://doi.org/10.1210/jc.2007-1328

Título: High bone mass associated with berardinelli lipodystrophy

Autor: Bandeira et al.

Link: https://doi.org/10.4158/ep.13.7.764

Título: Dual-Energy X-Ray Absorptiometry Study of Body Composition in Patients With Lipodystrophy

Autor: Valério et al.

Link: https://doi.org/10.2337/dc07-0025

Título: Founder Effect of the 669insA Mutation in BSCL2 Gene Causing Berardinelli-Seip Congenital Lipodystrophy in a Cluster from Brazil

Autor: Gomes et al.

Link: https://doi.org/10.1111/j.1469-1809.2007.00369.x

Título: Dental and periodontal alterations in Berardinelli-Seip syndrome

Autor: Lima et al.

Link: https://pubmed.ncbi.nlm.nih.gov/17506386/

Título: Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients

Autor: Gomes et al.

Link: https://doi.org/10.1007/s10545-005-0038-5

Título: Generalized congenital lipodystrophy: correlation with leptin and other biochemical parameters

Autor: Santos et al.

Link: https://pubmed.ncbi.nlm.nih.gov/17768808/

Título: Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects

Autor: Fu et al.

Link: https://doi.org/10.1210/jc.2003-030485

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.

Link: https://doi.org/10.1210/jc.2003-030415

Título: Triglyceride-induced Diabetes Mellitus in Congenital Generalized Lipodystrophy

Autor: Montenegro Júnior et al.

Link: https://doi.org/10.1515/jpem.2002.15.4.441

Título: Cardiac Involvement in Total Generalized Lipodystrophy (Berardinelli- Seip Syndrome)

Autor: Viégas et al.

Link: https://doi.org/10.1590/s0066-782x2000000900006

Título: Uncommon alleleinAPO AI.CIII.AIV gene cluster ina family with congenital generalized Iipodystrophy

Autor: Novak et al.

Link: https://doi.org/10.1590/s1516-31801997000600007