Associated Papers
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I et al.
Diabetes, Obesity & Metabolism, 2023
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
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
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
Montenegro Junior RM et al.
Diabetology & Metabolic Syndrome, 2020
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Soyaltin UE et al.
Clinical Diabetes and Endocrinology, 2020
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
30319454 (PubMed )
Supplement: Data_Sheet_1.pdf
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Akinci G et al.
Neuromuscular Disorders : Nmd, 2017
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
Haque W et al.
Biochemical and Biophysical Research Communications, 2005
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal AK et al.
Nature Genetics, 2002
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