(Q51753742)

11 April 2018

title

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population. (English)

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J Alfredo Martínez Hernández

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María J Moreno-Aliaga

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Amelia Marti

11

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Cristina Azcona

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C Azcona

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Cristina Razquin

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C Razquin

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Johannes Hebebrand

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object named as

J Hebebrand

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H Biebermann

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H Brumm

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A-K Wermter

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A Hinney

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A Patiño

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M Chueca

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M Oyarzabal

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R Pelach

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Grupo de Estudio Navarro de la Obesidad Infantil (GENOI)

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publication date

1 May 2007

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published in

Clinical Endocrinology

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volume

66

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issue

5

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page(s)

652-658

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Monogenic obesity in humans

cites work

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https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Establishing a standard definition for child overweight and obesity worldwide: international survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

Melanocortin-4 receptor gene variant I103 is negatively associated with obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02788.X

10.1111/J.1365-2265.2007.02788.X

21 January 2018

Identifiers

DOI

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11 April 2018

PubMed ID

17492953

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11 April 2018