J Magré, M Delépine, L Van Maldergem, JJ Robert, J … - Diabetes, 2003 - Am Diabetes Assoc Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic disease characterized
by near absence of adipose tissue and severe insulin resistance. We have previously identified
mutations in the seipin gene in a subset of our patients' cohort. Recently, disease-causing ... Cited by 38 - Related articles - BL Direct - All 5 versions
- ►bmj.com [PDF] L Van Maldergem, J Magre, TE Khallouf, T Gedde- … - British Medical …, 2002 - jmg.bmj.com A correction has been published for this article. The contents of the ... L Van Maldergem, J
Magré, TE Khallouf, T Gedde-Dahl Jr, M Delépine, O Trygstad, E Seemanova, T
Stephenson, CS Albott, F Bonnici, VR Panz, JL Medina, P Bogalho, F Huet, S Savasta, A ... Cited by 72 - Related articles - BL Direct - All 8 versions
- ►endojournals.org KB Gomes, AP Fernandes, ACS Ferreira, H … - Journal of Clinical …, 2004 - Endocrine Soc BERARDINELLI-SEIP CONGENITAL lipodystrophy (BSCL) is characterized by near total absence
of adipose tissue since birth. Other features include hypertriglyceridemia, hepatomegaly caused
by hepatic steatosis (which can lead to cirrhosis), muscle hypertrophy, and acanthosis ... Cited by 8 - Related articles - BL Direct - All 5 versions
- ►endojournals.org V Simha, A Garg - Journal of Clinical Endocrinology & Metabolism, 2003 - Endocrine Soc Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive syndrome characterized
by extreme paucity of adipose tissue since birth, acanthosis nigricans, severe insulin
resistance, marked hypertriglyceridemia, and early-onset diabetes mellitus. Recently, we ... Cited by 36 - Related articles - BL Direct - All 4 versions
AK Agarwal, E Arioglu, S De Almeida, N Akkoc, SI … - Nature genetics, 2002 - nature.com 1 Department of Internal Medicine, Division of Nutrition and Metabolic Diseases and Center for
Human Nutrition, McDermott Center for Human Growth and Development, University of Texas
Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas 75390, USA. Cited by 170 - Related articles - All 6 versions
- ►endojournals.org AK Agarwal, V Simha, EA Oral, SA Moran, P … - Journal of Clinical …, 2003 - Endocrine Soc CONGENITAL GENERALIZED LIPODYSTROPHY [CGL; Berardinelli-Seip syndrome, Online
Mendelian Inheritance in Man (OMIM) no. 269700; http://www.ncbi.nlm.nih.gov/Omim/] is a rare
autosomal recessive disorder characterized by near complete absence of adipose tissue ... Cited by 63 - Related articles - BL Direct - All 5 versions
- ►diabetesjournals.org K Heathcote, A Rajab, J Magré, P Syrris, M Besti, M … - Diabetes, 2002 - Am Diabetes Assoc Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the absence
of body fat and insulin resistance and accompanied by other features, including acanthosis
nigricans, organomegaly, hyperandrogenism, and diabetes. We have examined case ... Cited by 20 - Related articles - BL Direct - All 4 versions
DW Leung - Front Biosci, 2001 - bioscience.org Lysophosphatidic acid (LPA) and phosphatidic acid (PA) are two phospholipids involved in signal
transduction and in lipid biosynthesis in cells. LPA acyltransferase (LPAAT), also known as
1-acyl sn- glycerol-3-phosphate acyltransferase (1-AGPAT) (EC 2.3.1.51), catalyzes the ... Cited by 68 - Related articles - View as HTML - All 3 versions
C Lundin, R Nordström, K Wagner, C Windpassinger, H … - FEBS letters, 2006 - Elsevier The Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene encodes an integral membrane
protein, called seipin, of unknown function localized to the endoplasmic reticulum of eukaryotic
cells. Seipin is associated with the heterogeneous genetic disease BSCL2, and mutations ... Cited by 15 - Related articles - All 6 versions
S Bhayana, VM Siu, GI Joubert, CL Clarson, H Cao, RA … - Clinical genetics, 2002 - robarts.ca Page 1. Clin Genet 2002: 61: 283–287 Copyright C Blackwell Munksgaard 2002 Printed
in Denmark. All rights reserved CLINICAL GENETICS 0009-9163 Short Report
Cardiomyopathy in congenital complete lipodystrophy Bhayana ... Cited by 25 - Related articles - View as HTML - BL Direct - All 6 versions
