(Q35075500)

English

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

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

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

1 reference

Europe PubMed Central

6 August 2017

Evan E. Eichler

5

object named as

Evan E Eichler

1 reference

Europe PubMed Central

6 August 2017

Jill A Rosenfeld

1

object named as

Jill A Rosenfeld

1 reference

Europe PubMed Central

6 August 2017

7

object named as

Blake C Ballif

1 reference

Europe PubMed Central

6 August 2017

Santhosh Girirajan

4

object named as

Santhosh Girirajan

1 reference

Europe PubMed Central

6 August 2017

author name string

Justine Coppinger

2

1 reference

Europe PubMed Central

6 August 2017

Bassem A Bejjani

3

1 reference

Europe PubMed Central

6 August 2017

Lisa G Shaffer

6

1 reference

Europe PubMed Central

6 August 2017

publication date

1 March 2010

1 reference

Europe PubMed Central

6 August 2017

Journal of Neurodevelopmental Disorders

1 reference

Europe PubMed Central

6 August 2017

2

1 reference

Europe PubMed Central

6 August 2017

1

1 reference

Europe PubMed Central

6 August 2017

26-38

1 reference

Europe PubMed Central

6 August 2017

https://scigraph.springernature.com/pub.10.1007/s11689-009-9037-4

0 references

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 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=3125720

8 July 2018

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Advances in autism genetics: on the threshold of a new neurobiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Novel submicroscopic chromosomal abnormalities detected 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=3125720

8 July 2018

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

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=3125720

8 July 2018

Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

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=3125720

8 July 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=3125720

8 July 2018

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=3125720

8 July 2018

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Prevalence estimation of Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Molecular characterization of de novo secondary trisomy 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

8 July 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9037-4

21 January 2018

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9037-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9037-4

21 January 2018

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9037-4

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125720

27 September 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/21731881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S11689-009-9037-4

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

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