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Monogenic Obesity

Obesity associated with an identifiable mutation in a single gene.
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
Distinguishing patients with monogenic diabetes from those with type 1 diabetes (T1D) is important for correct diagnosis… Expand
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Highly Cited
2013
Highly Cited
2013
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Because of the unbalanced sex ratio (1.3-1.4 to 1) observed in intellectual disability (ID) and the identification of large ID… Expand
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Highly Cited
2009
Highly Cited
2009
Skeletal changes associated with the onset of type 2 diabetes in the ZDF and ZDSD rodent models.
The incidence and prevalence of type 2 diabetes (T2D) continue to escalate at an unprecedented rate in the United States… Expand
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Highly Cited
2008
Highly Cited
2008
Common nonsynonymous variants in PCSK1 confer risk of obesity
Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs… Expand
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Highly Cited
2008
Highly Cited
2008
Regulation of Fto/Ftm gene expression in mice and humans.
Two recent, large whole-genome association studies (GWAS) in European populations have associated a approximately 47-kb region… Expand
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Highly Cited
2007
Highly Cited
2007
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.
The melanocortin-4 receptor (MC4R) gene pathogenic mutations are the most prevalent forms of monogenic obesity, responsible for… Expand
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Review
2005
Review
2005
Genetics of type 2 diabetes mellitus.
The clinical picture of type 2 diabetes mellitus (T2DM) is formed by impairment in insulin secretion and resistance to insulin… Expand
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Highly Cited
2005
Highly Cited
2005
Distinct and Cooperative Functions of Phytochromes A, B, and C in the Control of Deetiolation and Flowering in Rice[W][OA]
We have isolated phytochrome B (phyB) and phyC mutants from rice (Oryza sativa) and have produced all combinations of double… Expand
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Review
2005
Review
2005
Genetics of idiopathic generalized epilepsies.
The idiopathic generalized epilepsies (IGEs) are considered to be primarily genetic in origin. They encompass a number of rare… Expand
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Highly Cited
1998
Highly Cited
1998
Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine.
Elevated blood plasma cholesterol (hypercholesterolemia) is a major risk factor for coronary artery disease (CAD) in humans… Expand
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