(Q29544005)

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

scientific article (publication date: 12 November 2009)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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

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https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

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12 February 2020

1

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12 February 2020

4

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12 February 2020

John W. Belmont

5

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12 February 2020

9

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12 February 2020

James R. Lupski

28

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James R Lupski

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12 February 2020

Pawel Stankiewicz

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Pawel Stankiewicz

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12 February 2020

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Daryl A Scott

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12 February 2020

Sung-Hae L Kang

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Sung-Hae L Kang

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12 February 2020

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12 February 2020

Elizabeth R Roeder

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Elizabeth R Roeder

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12 February 2020

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Stephen Amato

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12 February 2020

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12 February 2020

Arthur L Beaudet

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Arthur L Beaudet

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12 February 2020

William J Craigen

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William J Craigen

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12 February 2020

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Ankita Patel

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12 February 2020

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Pengfei Liu

2

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12 February 2020

Frank J Probst

7

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12 February 2020

Gary Clark

11

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12 February 2020

Jennifer Lee

12

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12 February 2020

Monica Proud

13

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12 February 2020

Amber Stocco

14

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12 February 2020

Diana L Rodriguez

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12 February 2020

Beth A Kozel

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12 February 2020

Steven Sparagana

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12 February 2020

Susan G McGrew

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12 February 2020

Thaddeus W Kurczynski

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12 February 2020

Leslie J Allison

21

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12 February 2020

Sarah Savage

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12 February 2020

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publication date

12 November 2009

2 references

DOI.org query endpoint

https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Journal of Medical Genetics

2 references

DOI.org query endpoint

https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

Europe PubMed Central

PMC publication ID

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12 February 2020

47

2 references

DOI.org query endpoint

https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

Europe PubMed Central

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12 February 2020

5

2 references

DOI.org query endpoint

https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

332-341

2 references

DOI.org query endpoint

https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Large recurrent microdeletions associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Psychosis and autism as diametrical disorders of the social brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Strong association of de novo copy number mutations with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Histone deacetylase 3 (HDAC3) activity is regulated by interaction with protein serine/threonine phosphatase 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Overexpression of serum amyloid A-activating factor 1 inhibits cell proliferation by the induction of cyclin-dependent protein kinase inhibitor p21WAF-1/Cip-1/Sdi-1 expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Doc2: a novel brain protein having two repeated C2-like domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Quinolinic-phosphoribosyl transferase activity is decreased in epileptic human brain tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

22 April 2017

Genomic sister-disorders of neurodevelopment: an evolutionary approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Genomic disorders ten years on.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Increased LIS1 expression affects human and mouse brain development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Haplotype sorting using human fosmid clone end-sequence pairs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

The array CGH and its clinical applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Recurrent 16p11.2 microdeletions in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

Effect of the ubiquitous transcription factors, SP1 and MAZ, on NMDA receptor subunit type 1 (NR1) expression during neuronal differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

26 November 2018

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

26 November 2018

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

26 November 2018

Knockout of ERK1 MAP kinase enhances synaptic plasticity in the striatum and facilitates striatal-mediated learning and memory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158566

26 November 2018

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/19914906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19914906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers

1 reference

https://pubmed.ncbi.nlm.nih.gov/19914906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19914906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19914906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2009.073015

3 references

DOI.org query endpoint

https://doi.org/10.1136%2FJMG.2009.073015

22 April 2017

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19914906%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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