Associated Papers
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.
Qin YY et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2019
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.
Lima JG et al.
Plos One, 2018
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ single-nucleotide polymorphisms with lipid and glycemic profiles of patients with Berardinelli-Seip syndrome.
Baracho MF et al.
Annals of Nutrition & Metabolism, 2014
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
Barra CB et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.
Victoria B et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2010
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
Gomes KB et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.
Gomes KB et al.
Annals of Human Genetics, 2007
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.
Gomes KB et al.
Journal of Inherited Metabolic Disease, 2005
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
Gomes KB et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J et al.
Nature Genetics, 2001