Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis (Q63869326)

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4 February 2020

title

Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis (English)

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7

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Suma Jacob

8

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author name string

L K Davis

1

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N Maltman

2

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M W Mosconi

3

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C Macmillan

4

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L Schmitt

5

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K Moore

6

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J A Sweeney

9

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E H Cook

10

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language of work or name

English

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publication date

7 June 2012

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American Journal of Medical Genetics

4 February 2020

published in

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volume

158A

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issue

7

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page(s)

1654-1661

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The Repetitive Behavior Scale-Revised: Independent Validation in Individuals with Autism Spectrum Disorders

4 February 2020

cites work

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12 December 2020

Maintaining force control despite changes in emotional context engages dorsomedial prefrontal and premotor cortex

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12 December 2020

Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing

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12 December 2020

Identification and expression of a mouse ortholog of A2BP1

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12 December 2020

A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG.

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12 December 2020

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

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12 December 2020

Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised.

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12 December 2020

Abnormal brain lateralization in high-functioning autism

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12 December 2020

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

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12 December 2020

Developmental Norms for 15 Neuropsychological Tests Age 6 to 15

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The assessment and analysis of handedness: The Edinburgh inventory

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The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects.

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Autism diagnostic interview: a standardized investigator-based instrument.

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Activation of c-src neuron-specific splicing by an unusual RNA element in vivo and in vitro

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Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element.

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Ritual, habit, and perfectionism: the prevalence and development of compulsive-like behavior in normal young children

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A complex intronic splicing enhancer from the c-src pre-mRNA activates inclusion of a heterologous exon

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12 December 2020

The splicing regulatory element, UGCAUG, is phylogenetically and spatially conserved in introns that flank tissue-specific alternative exons

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12 December 2020

Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities

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12 December 2020

Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT

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12 December 2020

Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals

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12 December 2020

Intermittent visuomotor processing in the human cerebellum, parietal cortex, and premotor cortex

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12 December 2020

Transgenic alternative-splicing reporters reveal tissue-specific expression profiles and regulation mechanisms in vivo.

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12 December 2020

Role for Fox-1/Fox-2 in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing

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12 December 2020

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

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12 December 2020

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.

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12 December 2020

Neuronal regulation of alternative pre-mRNA splicing

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12 December 2020

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

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12 December 2020

Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2.

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12 December 2020

An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells

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12 December 2020

An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons

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12 December 2020

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

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12 December 2020

Neurobehavioral abnormalities in first-degree relatives of individuals with autism

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12 December 2020

Developmental expression mapping of a gene implicated in multiple neurodevelopmental disorders, A2bp1 (Fox1).

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12 December 2020

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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12 December 2020

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

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12 December 2020

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

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12 December 2020

A novel protein with RNA-binding motifs interacts with ataxin-2

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35396

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4 February 2020

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4 February 2020

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