(Q35187237)

7 August 2017

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

1 reference

7 August 2017

0 references

1 reference

L K Davis

1

1 reference

7 August 2017

K J Meyer

2

1 reference

7 August 2017

D S Rudd

3

1 reference

7 August 2017

A L Librant

4

1 reference

7 August 2017

E A Epping

5

1 reference

7 August 2017

V C Sheffield

6

1 reference

7 August 2017

T H Wassink

7

1 reference

7 August 2017

language of work or name

1 reference

27 May 2009

1 reference

Journal of Neurodevelopmental Disorders

7 August 2017

1 reference

7 August 2017

1

1 reference

7 August 2017

4

1 reference

7 August 2017

292-301

1 reference

https://scigraph.springernature.com/pub.10.1007/s11689-009-9013-z

7 August 2017

0 references

cites work

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Disruption of contactin 4 in three subjects with autism spectrum disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Pax6 3' deletion results in aniridia, autism and mental retardation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Structural variation of chromosomes in autism spectrum disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Disruption of neurexin 1 associated with autism spectrum disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Contribution of SHANK3 mutations to autism spectrum disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Copy-number variation in control population cohorts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Leucine-rich repeat proteins of synapses

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Strong association of de novo copy number mutations with autism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Visualization of genomic aberrations using Affymetrix SNP arrays

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Global variation in copy number in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

LRRTM3 promotes processing of amyloid-precursor protein by BACE1 and is a positional candidate gene for late-onset Alzheimer's disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Segmental duplications and copy-number variation in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Fine-scale structural variation of the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Detection of large-scale variation in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Large-scale copy number polymorphism in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Regulation of SNAREs by tomosyn and ROCK: implication in extension and retraction of neurites

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Tomosyn inhibits priming of large dense-core vesicles in a calcium-dependent manner

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

The human genome browser at UCSC

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

The leucine-rich repeat as a protein recognition motif

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

The Pre-Linguistic Autism Diagnostic Observation Schedule

13 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9013-Z

Chromosomal abnormalities in a series of children with autistic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9013-Z

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9013-Z

Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9013-Z

Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Tumor classification based on DNA copy number aberrations determined using SNP arrays.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164008

Common deletions and SNPs are in linkage disequilibrium in the human genome

27 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9013-Z

The R-SNARE Motif of Tomosyn Forms SNARE Core Complexes with Syntaxin 1 and SNAP-25 and Down-regulates Exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11689-009-9013-Z

A high-resolution survey of deletion polymorphism in the human genome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21547721

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The tale of a nail sign in chromosome 4q34 deletion syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21547721

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia--a comparative study of four differently designed, high resolution microarray platforms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21547721

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S11689-009-9013-Z

1 reference

7 August 2017

1 reference

7 August 2017

1 reference