A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders (Q36386207)

13 August 2017

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders (English)

1 reference

13 August 2017

9

Zoltán Kutalik

1 reference

13 August 2017

24

Christa Lese Martin

1 reference

13 August 2017

Anne M Maillard

5

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Kyle J Steinman

Kyle J Steinman

30

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John E Spiro

John E Spiro

32

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Louise Harewood

Louise Harewood

20

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Pratik Mukherjee

Pratik Mukherjee

27

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Alexandre Reymond

33

Alexandre Reymond

1 reference

13 August 2017

17

W Andrew Faucett

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13 August 2017

10

Joris Andrieux

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13 August 2017

16

Bruno Delobel

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13 August 2017

23

David H Ledbetter

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13 August 2017

Flore Zufferey

1

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13 August 2017

Elliott H Sherr

2

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13 August 2017

Noam D Beckmann

3

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13 August 2017

Ellen Hanson

4

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13 August 2017

Loyse Hippolyte

6

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13 August 2017

Aurélien Macé

7

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13 August 2017

Carina Ferrari

8

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13 August 2017

Elizabeth Aylward

11

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13 August 2017

Mandy Barker

12

1 reference

13 August 2017

Raphael Bernier

13

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13 August 2017

Sonia Bouquillon

14

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13 August 2017

Philippe Conus

15

1 reference

13 August 2017

Robin P Goin-Kochel

18

1 reference

13 August 2017

Ellen Grant

19

1 reference

13 August 2017

Jill V Hunter

21

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13 August 2017

Sébastien Lebon

22

1 reference

13 August 2017

Katrin Männik

25

1 reference

13 August 2017

Danielle Martinet

26

1 reference

13 August 2017

Melissa B Ramocki

28

1 reference

13 August 2017

Sarah J Spence

29

1 reference

13 August 2017

Jennifer Tjernagel

31

1 reference

13 August 2017

Jacques S Beckmann

34

1 reference

13 August 2017

Wendy K Chung

35

1 reference

13 August 2017

Sébastien Jacquemont

36

1 reference

13 August 2017

Simons VIP Consortium

37

1 reference

13 August 2017

16p11.2 European Consortium

38

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 October 2012

1 reference

Journal of Medical Genetics

13 August 2017

1 reference

13 August 2017

49

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13 August 2017

10

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13 August 2017

660-668

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Cognitive function in morbidly obese individuals with and without binge eating disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Total and regional brain volumes in a population-based normative sample from 4 to 18 years: the NIH MRI Study of Normal Brain Development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Microduplications of 16p11.2 are associated with schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Copy number variation in human health, disease, and evolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Structural variation of chromosomes in autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Recurrent 16p11.2 microdeletions in autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

The prevalence and determinants of obesity in adults with intellectual disabilities.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Strong association of de novo copy number mutations with autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Neuron number and size in prefrontal cortex of children with autism

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Relationship between head circumference and brain volume in healthy normal toddlers, children, and adults.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Diagnostic interview for genetic studies (DIGS): inter-rater and test-retest reliability of the French version.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494011

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

21 September 2018

1 reference

12 December 2020

Development of the Children's Eating Behaviour Questionnaire

1 reference

12 December 2020

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

1 reference

12 December 2020

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

1 reference

12 December 2020

The mouse rib-vertebrae mutation is a hypomorphic Tbx6 allele

1 reference

12 December 2020

10.1136/JMEDGENET-2012-101203

Identifiers

DOI

1 reference

13 August 2017

1 reference

13 August 2017

1 reference