(Q50306213)

2 March 2018

title

Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism. (English)

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2 March 2018

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1

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2 March 2018

author name string

Hsiao-Mei Liao

2

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2 March 2018

Chao-Chun Hong

3

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2 March 2018

Wei-Hsien Chien

4

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Chia-Hsiang Chen

5

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2 March 2018

publication date

9 July 2012

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2 March 2018

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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2 March 2018

volume

159B

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issue

6

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page(s)

710-717

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2 March 2018

CA150 expression delays striatal cell death in overexpression and knock-in conditions for mutant huntingtin neurotoxicity.

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Genetic basis of autism: is there a way forward?

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Behavioral problems and parenting style among Taiwanese children with autism and their siblings.

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

21 January 2018

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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

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Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population.

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The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders

21 January 2018

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The genetics of neurodevelopmental disease.

21 January 2018

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Spinocerebellar ataxia type 12.

21 January 2018

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Identification of the cellular targets of the transcription factor TCERG1 reveals a prevalent role in mRNA processing.

21 January 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Understanding variable expressivity in microdeletion syndromes.

21 January 2018

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Sh3rf2/POSHER protein promotes cell survival by ring-mediated proteasomal degradation of the c-Jun N-terminal kinase scaffold POSH (Plenty of SH3s) protein.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.32074

Psychometric properties of the Chinese version of the adult ADHD Self-report Scale.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.32074

Psychometric properties of the Chinese version of the Swanson, Nolan, and Pelham, version IV scale – parent form

21 January 2018

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Psychometric properties of the Chinese version of the Social Communication Questionnaire

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.32074

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32074

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2 March 2018

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2 March 2018