A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder (Q34104731)

31 July 2017

title

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder (English)

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autism spectrum disorderکیرم دعنت

31 July 2017

main subject

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Herman van Engeland

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31 July 2017

Leonard H van den Berg

object named as

Leonard H van den Berg

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31 July 2017

Michael A van Es

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31 July 2017

Bert van der Zwaag

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31 July 2017

Wouter G Staal

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31 July 2017

Ron Hochstenbach

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31 July 2017

Martin Poot

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31 July 2017

Henk A Spierenburg

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31 July 2017

Maretha V de Jonge

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31 July 2017

Nienke E Verbeek

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31 July 2017

Ruben van 't Slot

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31 July 2017

Frank J Staal

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31 July 2017

Christine M Freitag

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31 July 2017

Jacobine E Buizer-Voskamp

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31 July 2017

Marcel R Nelen

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31 July 2017

Hans K Ploos van Amstel

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31 July 2017

J Peter H Burbach

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31 July 2017

publication date

1 June 2010

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

31 July 2017

published in

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31 July 2017

volume

153B

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31 July 2017

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31 July 2017

page(s)

960-966

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Gene-network analysis identifies susceptibility genes related to glycobiology in autism

31 July 2017

cites work

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

5 July 2018

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

5 July 2018

1 reference

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Large recurrent microdeletions associated with schizophrenia

5 July 2018

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Identifying autism loci and genes by tracing recent shared ancestry

5 July 2018

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

5 July 2018

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Structural variation of chromosomes in autism spectrum disorder

5 July 2018

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

5 July 2018

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Strong association of de novo copy number mutations with autism

5 July 2018

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

5 July 2018

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Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

5 July 2018

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Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

5 July 2018

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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

5 July 2018

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Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

5 July 2018

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mRNPs, polysomes or granules: FMRP in neuronal protein synthesis

5 July 2018

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Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review

5 July 2018

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

5 July 2018

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WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

5 July 2018

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Abi, Sra1, and Kette control the stability and localization of SCAR/WAVE to regulate the formation of actin-based protrusions

5 July 2018

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NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

5 July 2018

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Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

5 July 2018

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The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

5 July 2018

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The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians

5 July 2018

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances

5 July 2018

1 reference

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Contact in the genetics of autism and schizophrenia

28 October 2018

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The Prader-Willi phenotype of fragile X syndrome

28 October 2018

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Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933514

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

28 October 2018

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CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

28 October 2018

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28 October 2018

Identifiers

DOI

10.1002/AJMG.B.31055

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31 July 2017

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31 July 2017

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