(Q24604488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

pervasive developmental disorder

11 February 2020

main subject

0 references

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Francesca Mari

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Anthony Monaco

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jenny Taylor

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Alessandra Renieri

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Simon Fisher

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Samantha J.L. Knight

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Elham Sadighi Akha

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kay D Macdermot

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Roberto Canitano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

English

0 references

publication date

22 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

361-365

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Microduplications of 16p11.2 are associated with schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Structural variation of chromosomes in autism spectrum disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Molecular Cloning of the cDNA Encoding Human Skeletal Muscle Triadin and Its Localisation to Chromosome 6q22–6q23

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Detection of large-scale variation in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

FOXP2 as a molecular window into speech and language

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Strong association of de novo copy number mutations with sporadic schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

A genome-wide association study of neuroticism in a population-based sample

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Rare copy number variants are an important cause of epileptic encephalopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Novel copy number variants in children with autism and additional developmental anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Ablation of skeletal muscle triadin impairs FKBP12/RyR1 channel interactions essential for maintaining resting cytoplasmic Ca2+

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Perceptual and acoustic reliability estimates for the Speech Disorders Classification System (SDCS).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Extensions to the Speech Disorders Classification System (SDCS).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

A double hit implicates DIAPH3 as an autism risk gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598310

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.166

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.166

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.166

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.166

Understanding variable expressivity in microdeletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.166

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22909776

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22909776

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.166

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 February 2020

1050711598

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

22909776

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22909776%20AND%20SRC:MED&resulttype=core&format=json