(Q36611957)

English

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

scientific article published on 8 August 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

0 references

autism spectrum disorder

0 references

Pawel Stankiewicz

9

object named as

Pawel Stankiewicz

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

Sandesh C S Nagamani

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Ayelet Erez

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Bruria Ben-Zeev

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Moshe Frydman

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Susan Winter

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Robert Zeller

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Dima El-Khechen

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Luis Escobar

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Ankita Patel

10

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Sau Wai Cheung

11

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

8 August 2012

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

21

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

343-346

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Detection of clinically relevant exonic copy-number changes by array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

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=3573196

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

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=3573196

30 September 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=3573196

30 September 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=3573196

30 September 2017

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=3573196

30 September 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=3573196

30 September 2017

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 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=3573196

30 September 2017

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=3573196

30 September 2017

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

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=3573196

30 September 2017

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=3573196

30 September 2017

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

30 September 2017

[Twins with autism and mental retardation associated with balanced (7;20) chromosomal translocation].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

28 June 2018

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

27 July 2018

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

20 September 2018

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

20 September 2018

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

20 September 2018

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

20 September 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

20 September 2018

An ABCA4 genomic deletion in patients with Stargardt disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573196

20 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22872102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/22872102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2012.157

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

0 references

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