Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy

(2019) Aquiles Sales Craveiro Sarmento et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

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

(2018) Clarisse Mourão Melo Ponte et al.   BMC Cardiovascular Disorders

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy

(2018) Josivan Gomes Lima et al.   PLoS One

Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants

(2018) Yi Liu et al.   European Journal of Medical Genetics

Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities

(2018) Baris Akinci et al.   Current Diabetes Reports

Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease

(2018) Iram Hussain et al.   PATHOLOGY

Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

(2018) Joanna Oswiecimska et al.   Journal of Clinical Research in Pediatric Endocrinology

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

(2017) Lázaro Batista de Azevedo Medeiros et al.   Diabetology & Metabolic Syndrome

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

(2017) Elaine Chiquette et al.   Diabetes Metabolic Syndrome and Obesity-Targets and Therapy

Leptin and Hormones

(2016) Georgios A. Triantafyllou et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

(2016) Baris Akinci et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases

(2016) Stephanie Teboul-Coré et al.   SKELETAL RADIOLOGY

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

(2015) A. Haghighi et al.   CLINICAL GENETICS

Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study

(2014) Víctor A. Cortés et al.   PLoS One

AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome

(2013) Parastoo Rostami et al.   ANNALES D ENDOCRINOLOGIE

Early infantile cardiomyopathy and liver disease: A multisystemic disorder caused by congenital lipodystrophy

(2013) François-Guillaume Debray et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children

(2012) S Jahnavi et al.   CLINICAL GENETICS

Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations

(2012) A. R. Subauste et al.   DIABETES

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

(2012) Amirreza Haghighi et al.   European Journal of Medical Genetics

Berardinelli Seip congenital lipodystrophy presenting with neonatal diabetes mellitus due to a mutation in the AGPAT2 gene

(2012) V. Poovazhagi et al.   International Journal of Diabetes in Developing Countries

Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome

(2011) Caterina Pelosini et al.   ACTA DIABETOLOGICA

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

(2011) Cristiane B. Barra et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Hepatic left lobe volume is a sensitive index of metabolic improvement in obese women after gastric banding

(2011) M Giannetti et al.   INTERNATIONAL JOURNAL OF OBESITY

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cardiomyopathy in Congenital and Acquired Generalized Lipodystrophy

(2010) Beatrice C. Lupsa et al.   MEDICINE

Molecular Mechanisms of Hepatic Steatosis and Insulin Resistance in the AGPAT2-Deficient Mouse Model of Congenital Generalized Lipodystrophy

(2009) Víctor A. Cortés et al.   Cell Metabolism

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome

(2009) Debora M. Miranda et al.   CLINICAL ENDOCRINOLOGY

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

Lipodystrophie congénitale généralisée de type 1 avec atteinte neurologique

(2008) H. Ben Turkia et al.   ARCHIVES DE PEDIATRIE

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

(2008) C. A. Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recent progress on acyl CoA: lysophospholipid acyltransferase research

(2008) Hideo Shindou et al.   JOURNAL OF LIPID RESEARCH

Energy balance in congenital generalized lipodystrophy type I

(2008) Sasha Taleban et al.   METABOLISM-CLINICAL AND EXPERIMENTAL