Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine (Q37822862)

23 August 2017

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title

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine (English)

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23 August 2017

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personalized medicine

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2

Philippe Froguel

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author name string

Alexandra I F Blakemore

series ordinal

1

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PubMed ID

21175686

23 August 2017

language of work or name

English

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publication date

1 December 2010

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Annals of the New York Academy of Sciences

23 August 2017

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23 August 2017

1214

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23 August 2017

180-189

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

23 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Is obesity our genetic legacy?

21 January 2018

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Human genetics illuminates the paths to metabolic disease

21 January 2018

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Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

21 January 2018

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Obesity and diabetes in the developing world--a growing challenge

21 January 2018

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Global estimates of the prevalence of diabetes for 2010 and 2030

21 January 2018

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Global burden of obesity in 2005 and projections to 2030.

21 January 2018

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The Body-Mass Index of Twins Who Have Been Reared Apart

21 January 2018

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An Adoption Study of Human Obesity

21 January 2018

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Genetic and environmental factors in relative body weight and human adiposity

21 January 2018

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Leptin: a pivotal regulator of human energy homeostasis

21 January 2018

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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

21 January 2018

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Congenital leptin deficiency is associated with severe early-onset obesity in humans

21 January 2018

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Consanguinity and reproductive health among Arabs

21 January 2018

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Human population structure, genome autozygosity and human health

21 January 2018

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Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

21 January 2018

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Common variants near MC4R are associated with fat mass, weight and risk of obesity

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

21 January 2018

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Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

21 January 2018

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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

21 January 2018

1 reference

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Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Prader-Willi syndrome: advances in genetics, pathophysiology and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

WAGR syndrome: a clinical review of 54 cases

21 January 2018

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Brain-derived neurotrophic factor and obesity in the WAGR syndrome

21 January 2018

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A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

21 January 2018

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Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor

21 January 2018

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The Ciliopathies: An Emerging Class of Human Genetic Disorders

21 January 2018

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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Minireview: GNAS: normal and abnormal functions.

21 January 2018

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Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

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Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Large, rare chromosomal deletions associated with severe early-onset obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

21 January 2018

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Psoriasis is associated with increased beta-defensin genomic copy number

21 January 2018

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Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

21 January 2018

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FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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The genetic contribution to non-syndromic human obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Common body mass index-associated variants confer risk of extreme obesity

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Variation in FTO contributes to childhood obesity and severe adult obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants

21 January 2018

1 reference

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FTO: the first gene contributing to common forms of human obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

21 January 2018

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Missing heritability and GWAS utility

21 January 2018

1 reference

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TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study

21 January 2018

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Finding the missing heritability of complex diseases

21 January 2018

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Common SNPs explain a large proportion of the heritability for human height

21 January 2018

1 reference

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Combined analyses of 20 common obesity susceptibility variants

21 January 2018

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Next-generation DNA sequencing methods

21 January 2018

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The impact of next-generation sequencing technology on genetics

21 January 2018

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05880.X

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

21 January 2018

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PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

21 January 2018

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Dindel: accurate indel calls from short-read data

21 January 2018

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SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data

21 January 2018

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SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

21 January 2018

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Detection and characterization of novel sequence insertions using paired-end next-generation sequencing

21 January 2018

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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

21 January 2018

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Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response

21 January 2018

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Potent and selective agonism of the melanocortin receptor 4 with MK-0493 does not induce weight loss in obese human subjects: energy intake predicts lack of weight loss efficacy

21 January 2018

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Analysis of the therapeutic functions of novel melanocortin receptor agonists in MC3R- and MC4R-deficient C57BL/6J mice.

21 January 2018

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Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients

21 January 2018

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Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist

21 January 2018

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Neuropsychiatric adverse effects of centrally acting antiobesity drugs.

21 January 2018

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Pharmacological management of appetite expression in obesity

21 January 2018

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Bariatric surgery in a patient with complete MC4R deficiency

21 January 2018

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Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutations

21 January 2018

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Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene

21 January 2018

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Common nonsynonymous variants in PCSK1 confer risk of obesity

21 January 2018

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10.1111/J.1749-6632.2010.05880.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference

PubMed ID

21175686