Familial generalized lipodystrophy

Known as: Generalized Lipodystrophies, Congenital, Lipodystrophies, Congenital Generalized, Lipodystrophies, Total 
A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities… (More)
National Institutes of Health

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15 relations
AREDYLD SyndromeAcquired generalized lipodystrophyFamilial partial lipodystrophyIn Blood
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Narrower (4)

Congenital Generalized Lipodystrophy Type 1Congenital Generalized Lipodystrophy Type 2Lipodystrophy, Congenital Generalized, Type 3Lipodystrophy, Congenital Generalized, Type 4

Broader (1)

Lipodystrophy

Papers overview

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Highly Cited
2009
Highly Cited
2009
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Caveolae are invaginations of the plasma membrane involved in many cellular processes, including clathrin-independent endocytosis… (More)
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Highly Cited
2005
Highly Cited
2005
The R Package geepack for Generalized Estimating Equations
This paper describes the core features of the R package geepack, which implements the generalized estimating equations (GEE… (More)
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Highly Cited
2005
Highly Cited
2005
Long-term efficacy of leptin replacement in patients with generalized lipodystrophy.
Ectopic fat accumulation has been implicated as a contributing factor in the abnormal metabolic state of obesity. One human model… (More)
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Highly Cited
2003
Highly Cited
2003
Statistical analysis of correlated data using generalized estimating equations: an orientation.
The method of generalized estimating equations (GEE) is often used to analyze longitudinal and other correlated response data… (More)
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Highly Cited
2002
Highly Cited
2002
Generalized autocalibrating partially parallel acquisitions (GRAPPA).
In this study, a novel partially parallel acquisition (PPA) method is presented which can be used to accelerate image acquisition… (More)
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Highly Cited
2002
Highly Cited
2002
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked paucity of adipose tissue… (More)
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Highly Cited
2001
Highly Cited
2001
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome (BSCL), is a rare autosomal recessive disease characterized… (More)
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Highly Cited
2000
Highly Cited
2000
Algebraic soft-decision decoding of Reed-Solomon codes
of Reed-Solomon Codes Ralf Koetter Coordinated Science Laboratory University of Illinois at Urbana-Champaign Urbana, IL 61801, U… (More)
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Highly Cited
1999
Highly Cited
1999
Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by a paucity of adipose (fat… (More)
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Highly Cited
1999
Highly Cited
1999
Measurement of intracellular triglyceride stores by H spectroscopy: validation in vivo.
We validate the use of 1H magnetic resonance spectroscopy (MRS) to quantitatively differentiate between adipocyte and… (More)
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