Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene (Q34273759)

1 August 2017

title

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene (English)

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1 August 2017

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12

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E Bonora

5

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author name string

E Bacchelli

1

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1 August 2017

F Blasi

2

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M Biondolillo

3

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J A Lamb

4

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G Barnby

6

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J Parr

7

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K S Beyer

8

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S M Klauck

9

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A Poustka

10

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A J Bailey

11

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E Maestrini

13

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1 August 2017

International Molecular Genetic Study of Autism Consortium (IMGSAC)

14

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1 August 2017

language of work or name

English

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publication date

1 November 2003

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1 August 2017

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1 August 2017

volume

8

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issue

11

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1 August 2017

page(s)

916-924

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Autism: in search of susceptibility genes

1 August 2017

cites work

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Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity

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A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27

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Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder

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T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex

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Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

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Analysis of reelin as a candidate gene for autism

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Tbr1 regulates differentiation of the preplate and layer 6.

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Coordinated expression of Hoxa2, Hoxd1 and Pax6 in the developing diencephalon

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Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy

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A cDNA for a human cyclic AMP response element-binding protein which is distinct from CREB and expressed preferentially in brain

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ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation

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Cloning and characterization of two members of the vertebrate Dlx gene family

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Two genes encode distinct glutamate decarboxylases

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Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices

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A family of cAMP-binding proteins that directly activate Rap1

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cAMP-GEFII is a direct target of cAMP in regulated exocytosis

21 January 2018

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Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes

21 January 2018

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

21 January 2018

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The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

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A test for linkage and association in general pedigrees: the pedigree disequilibrium test

21 January 2018

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Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

21 January 2018

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Are rare variants responsible for susceptibility to complex diseases?

21 January 2018

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A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain.

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

2-year-old boy who has been diagnosed with autism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MP.4001340

inferred from DOI database lookup

7 January 2021

based on heuristic

GOLD--graphical overview of linkage disequilibrium

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MP.4001340

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.MP.4001340

1 reference

1 August 2017

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