Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (Q34212342)

31 July 2017

title

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (English)

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Gudmar Thorleifsson

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Cédric Le Caignec

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Vittoria Disciglio

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Lukas Forer

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Louise Harewood

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31 July 2017

language of work or name

English

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publication date

31 August 2011

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31 July 2017

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31 July 2017

volume

478

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31 July 2017

issue

7367

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31 July 2017

page(s)

97-102

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Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

31 July 2017

cites work

1 reference

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5 July 2018

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Body-Mass Index and Mortality among 1.46 Million White Adults

5 July 2018

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

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5 July 2018

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

5 July 2018

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Microduplications of 16p11.2 are associated with schizophrenia

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

5 July 2018

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Regulation of carboxylesterase 1 (CES1) in human adipose tissue

5 July 2018

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A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods

5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

5 July 2018

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Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

5 July 2018

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The STANISLAS Cohort: a 10-year follow-up of supposed healthy families. Gene-environment interactions, reference values and evaluation of biomarkers in prevention of cardiovascular diseases

5 July 2018

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Psychosis and autism as diametrical disorders of the social brain

5 July 2018

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Overweight is associated with decreased cognitive functioning among school-age children and adolescents

5 July 2018

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Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

5 July 2018

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The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

5 July 2018

1 reference

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Structural variation of chromosomes in autism spectrum disorder

5 July 2018

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Estimation and assessment of raw copy numbers at the single locus level

5 July 2018

1 reference

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Association between microdeletion and microduplication at 16p11.2 and autism

5 July 2018

1 reference

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Development of a WHO growth reference for school-aged children and adolescents

5 July 2018

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Cause-specific excess deaths associated with underweight, overweight, and obesity

5 July 2018

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Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

5 July 2018

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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

5 July 2018

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

5 July 2018

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

5 July 2018

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A faster circular binary segmentation algorithm for the analysis of array CGH data

5 July 2018

1 reference

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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

5 July 2018

1 reference

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Failure to thrive: the prevalence and concurrence of anthropometric criteria in a general infant population

5 July 2018

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KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes

5 July 2018

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What is the long term outcome for children who fail to thrive? A systematic review

5 July 2018

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Whole genome DNA copy number changes identified by high density oligonucleotide arrays

5 July 2018

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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

5 July 2018

1 reference

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Circular binary segmentation for the analysis of array-based DNA copy number data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Estimates of global prevalence of childhood underweight in 1990 and 2015.

5 July 2018

1 reference

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To what extent is failure to thrive in infancy associated with poorer cognitive development? A review and meta-analysis

5 July 2018

1 reference

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Validity of body mass index compared with other body-composition screening indexes for the assessment of body fatness in children and adolescents

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

CDC growth charts: United States

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Physical status: the use and interpretation of anthropometry. Report of a WHO Expert Committee

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Calculating confidence intervals for relative risks (odds ratios) and standardised ratios and rates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

A diagnostic interview: the schedule for affective disorders and schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Research diagnostic criteria: rationale and reliability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Classification of eating disturbance in children and adolescents: proposed changes for the DSM-V

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10406

Segmental copy number variation shapes tissue transcriptomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10406

Evidence of brain overgrowth in the first year of life in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10406

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10406

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10406

Comparison of the Prevalence of Shortness, Underweight, and Overweight among US Children Aged 0 to 59 Months by Using the CDC 2000 and the WHO 2006 Growth Charts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10406

Obesity and insulin resistance-related changes in the expression of lipogenic and lipolytic genes in morbidly obese subjects.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Association of circulating lactoferrin concentration and 2 nonsynonymous LTF gene polymorphisms with dyslipidemia in men depends on glucose-tolerance status

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Validity of self-report and informant rating scales of adult ADHD symptoms in comparison with a semistructured diagnostic interview.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Natural antibiotics and insulin sensitivity: the role of bactericidal/permeability-increasing protein

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Combined family trio and case-control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Study of Health In Pomerania (SHIP): a health examination survey in an east German region: objectives and design

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Attention-Deficit/Hyperactivity symptoms in Icelandic schoolchildren: assessment with the Attention Deficit/Hyperactivity Rating Scale-IV.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Cohort Profile: The Study of Health in Pomerania

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3637175

Comparison of the WHO child growth standards and the CDC 2000 growth charts

28 October 2018

1 reference

12 December 2020

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development

1 reference

12 December 2020

Body Mass Index variations: centiles from birth to 87 years

1 reference

12 December 2020

Alpha defensins 1, 2, and 3: potential roles in dyslipidemia and vascular dysfunction in humans

1 reference

12 December 2020

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/NATURE10406

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

1 reference