(Q35110533)

6 August 2017

title

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders (English)

1 reference

6 August 2017

main subject

autism spectrum disorder

0 references

author

Thomas Bourgeron

13

1 reference

6 August 2017

7

0 references

Etienne Patin

Etienne Patin

4

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Marion Leboyer

Marion Leboyer

8

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Richard Delorme

Richard Delorme

12

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Christopher Gillberg

10

Christopher Gillberg

1 reference

6 August 2017

5

Guillaume Laval

1 reference

6 August 2017

Guillaume Huguet

1

1 reference

6 August 2017

Caroline Nava

2

1 reference

6 August 2017

Nathalie Lemière

3

1 reference

6 August 2017

Elodie Ey

6

1 reference

6 August 2017

Pierre Szepetowski

9

1 reference

6 August 2017

Christel Depienne

11

1 reference

6 August 2017

language of work or name

English

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publication date

3 March 2014

1 reference

6 August 2017

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6 August 2017

volume

9

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6 August 2017

issue

3

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6 August 2017

page(s)

e88600

1 reference

Creative Commons Attribution 4.0 International

6 August 2017

copyright license

start time

3 March 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

The genetic landscapes of autism spectrum disorders

1 reference

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9 July 2018

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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

9 July 2018

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

9 July 2018

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9 July 2018

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Functional impact of global rare copy number variation in autism spectrum disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

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

9 July 2018

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Microduplications of 16p11.2 are associated with schizophrenia

9 July 2018

1 reference

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DnaSP v5: a software for comprehensive analysis of DNA polymorphism data

9 July 2018

1 reference

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Association and mutation analyses of 16p11.2 autism candidate genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Positive selection in the human genome: from genome scans to biological significance

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Recurrent 16p11.2 microdeletions in autism

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

A human genome diversity cell line panel

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

Adaptive protein evolution at the Adh locus in Drosophila

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940422

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

9 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0088600

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0088600

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24594579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24594579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0088600

1 reference

6 August 2017

0 references

1 reference

6 August 2017

1 reference