Associated Papers
The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
de Melo MEC et al.
International Journal of Molecular Sciences, 2025
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I et al.
Diabetes, Obesity & Metabolism, 2023
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G et al.
Frontiers in Endocrinology, 2020
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier C et al.
Current Medical Research and Opinion, 2019
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
Teboul-Coré S et al.
Skeletal Radiology, 2016
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Rostami P et al.
Annales D'endocrinologie, 2013
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
Haghighi A et al.
European Journal of Medical Genetics, 2012
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA et al.
Journal of Lipid Research, 2007
Genetic basis of congenital generalized lipodystrophy.
Agarwal AK et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2004
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J et al.
Diabetes, 2003
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