(Q37172992)

18 August 2017

Mouse model implicates GNB3 duplication in a childhood obesity syndrome (English)

1 reference

18 August 2017

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1 reference

Ian S Goldlust

1

1 reference

18 August 2017

Karen E Hermetz

2

1 reference

18 August 2017

Lisa M Catalano

3

1 reference

18 August 2017

Richard T Barfield

4

1 reference

18 August 2017

Rebecca Cozad

5

1 reference

18 August 2017

Grace Wynn

6

1 reference

18 August 2017

Alev Cagla Ozdemir

7

1 reference

18 August 2017

Karen N Conneely

8

1 reference

18 August 2017

Jennifer G Mulle

9

1 reference

18 August 2017

Shikha Dharamrup

10

1 reference

18 August 2017

Madhuri R Hegde

11

1 reference

18 August 2017

Katherine H Kim

12

1 reference

18 August 2017

Brad Angle

13

1 reference

18 August 2017

Alison Colley

14

1 reference

18 August 2017

Amy E Webb

15

1 reference

18 August 2017

Erik C Thorland

16

1 reference

18 August 2017

Jay W Ellison

17

1 reference

18 August 2017

Jill A Rosenfeld

18

1 reference

18 August 2017

Blake C Ballif

19

1 reference

18 August 2017

Lisa G Shaffer

20

1 reference

18 August 2017

Laurie A Demmer

21

1 reference

18 August 2017

Unique Rare Chromosome Disorder Support Group

22

1 reference

18 August 2017

M Katharine Rudd

23

1 reference

18 August 2017

language of work or name

English

0 references

publication date

26 August 2013

1 reference

Proceedings of the National Academy of Sciences of the United States of America

18 August 2017

1 reference

18 August 2017

110

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18 August 2017

37

1 reference

18 August 2017

14990-14994

1 reference

Nontelomeric role for Rap1 in regulating metabolism and protecting against obesity

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Leptin revisited: its mechanism of action and potential for treating diabetes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

A genome-wide association meta-analysis identifies new childhood obesity loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

A recurrent translocation is mediated by homologous recombination between HERV-H elements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Molecular basis of obesity: current status and future prospects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

A copy number variation morbidity map of developmental delay

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hypertension, obesity, and depression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Ten years of leptin replacement therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

A genome-wide study reveals copy number variants exclusive to childhood obesity cases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Duplication hotspots, rare genomic disorders, and common disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Overgrowth syndromes:from classical to new.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Effects of recombinant leptin therapy in a child with congenital leptin deficiency.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Leptin and the regulation of body weight in mammals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Association of a human G-protein beta3 subunit variant with hypertension

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

The genetic and environmental sources of body mass index variability: the Muscatine Ponderosity Family Study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

The NHLBI twin study of cardiovascular disease risk factors: methodology and summary of results

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Obese and diabetes: Two mutant genes causing diabetes-obesity syndromes in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Quantification of allele-specific G-protein beta3 subunit mRNA transcripts in different human cells and tissues by Pyrosequencing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

The natural history of trisomy 12p.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Identification of SH2-B as a key regulator of leptin sensitivity, energy balance, and body weight in mice

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Weight-for-stature compared with body mass index-for-age growth charts for the United States from the Centers for Disease Control and Prevention

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773733

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

20 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1305999110

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23980137

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/23980137

12 December 2020

inferred from PubMed ID database lookup

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23980137

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.1305999110

1 reference

release_vekwi3bkzfftvay5s5tcwpaov4

18 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vekwi3bkzfftvay5s5tcwpaov4

24 November 2022

mapped directly with Wikidata item

1 reference

18 August 2017

PubMed publication ID

23980137

1 reference