Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. (Q34700227)

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29 February 2020

title

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23637818%20AND%20SRC:MED&resulttype=core&format=json

neurodevelopmental disorder

29 February 2020

main subject

1 reference

1 reference

1

1 reference

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29 February 2020

Richard Dobson

3

1 reference

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29 February 2020

Gerome Breen

4

1 reference

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29 February 2020

James Rucker

5

1 reference

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29 February 2020

David Collier

15

1 reference

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29 February 2020

8

Peter McGuffin

1 reference

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29 February 2020

11

Joris Andrieux

1 reference

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29 February 2020

12

Evangelos Vassos

1 reference

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29 February 2020

author name string

Joo Wook Ahn

2

1 reference

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29 February 2020

Abhishek Dixit

6

1 reference

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29 February 2020

Deb K Pal

7

1 reference

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29 February 2020

Anne Farmer

9

1 reference

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29 February 2020

Peter S White

10

1 reference

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29 February 2020

Caroline Mackie Ogilvie

13

1 reference

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29 February 2020

Sarah Curran

14

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

18 April 2013

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29 February 2020

1 reference

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29 February 2020

volume

8

1 reference

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29 February 2020

issue

4

1 reference

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29 February 2020

page(s)

e61365

1 reference

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Creative Commons Attribution 4.0 International

29 February 2020

copyright license

start time

18 April 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

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Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

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Phenotypic manifestations of copy number variation in chromosome 16p13.11.

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

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Ohnologs in the human genome are dosage balanced and frequently associated with disease

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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Differential effects of prenatal and postnatal expressions of mutant human DISC1 on neurobehavioral phenotypes in transgenic mice: evidence for neurodevelopmental origin of major psychiatric disorders.

7 July 2018

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The pitfalls of platform comparison: DNA copy number array technologies assessed

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Reduced interhemispheric connectivity in schizophrenia-tractography based segmentation of the corpus callosum

7 July 2018

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Integrated detection and population-genetic analysis of SNPs and copy number variation

7 July 2018

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Large recurrent microdeletions associated with schizophrenia

7 July 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

7 July 2018

1 reference

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

7 July 2018

1 reference

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Schizophrenia: a concise overview of incidence, prevalence, and mortality

7 July 2018

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Further evidence that some male-based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations

7 July 2018

1 reference

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Strong association of de novo copy number mutations with autism

7 July 2018

1 reference

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Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1.

7 July 2018

1 reference

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Copy number variation: new insights in genome diversity

7 July 2018

1 reference

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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

7 July 2018

1 reference

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Structural variation in the human genome

7 July 2018

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Sex differences in the brain: implications for explaining autism

7 July 2018

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Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population

7 July 2018

2 references

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7 July 2018

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The sequence and analysis of duplication-rich human chromosome 16

21 January 2018

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Mitotic spindle regulation by Nde1 controls cerebral cortical size

7 July 2018

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Detection of large-scale variation in the human genome

7 July 2018

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Large-scale copy number polymorphism in the human genome

7 July 2018

1 reference

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Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630198

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

7 July 2018

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Molecular mechanisms for genomic disorders

7 July 2018

1 reference

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Protein-protein interactions, cytoskeletal regulation and neuronal migration

7 July 2018

1 reference

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Varying intertrial interval reveals temporally defined memory deficits and enhancements in NTAN1-deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630198

Mutations in ABCC6 cause pseudoxanthoma elasticum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630198

Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3630198

Past and present state examination: the assessment of 'lifetime ever' psychopathology.

7 July 2018

1 reference

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Gender bias, female resilience, and the sex ratio in autism

7 July 2018

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

21 January 2018

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Facilitated stimulus-response associative learning and long-term memory in mice lacking the NTAN1 amidase of the N-end rule pathway

21 January 2018

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Penetrance for copy number variants associated with schizophrenia

21 January 2018

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The complex relationship of gene duplication and essentiality.

21 January 2018

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A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia.

21 January 2018

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Impact of the DISC1 Ser704Cys polymorphism on risk for major depression, brain morphology and ERK signaling

21 January 2018

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Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments.

21 January 2018

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Association of DISC1 with autism and Asperger syndrome

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061365

Inducible expression of mutant human DISC1 in mice is associated with brain and behavioral abnormalities reminiscent of schizophrenia.

21 January 2018

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Phenotypic variations on the theme of CNVs

21 January 2018

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A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q

21 January 2018

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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061365

Internal consistencies of the original and revised Beck Depression Inventory

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23637818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23637818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The sex-specific genetic architecture of quantitative traits in humans

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23637818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0061365

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23637818%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23637818%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

23637818

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23637818%20AND%20SRC:MED&resulttype=core&format=json