(Q50306682)

2 March 2018

title

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. (English)

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main subject

autism spectrum disorder

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6

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Frank Kooy

8

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Geert Vandeweyer

object named as

Geert Vandeweyer

2

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author name string

Nathalie Van der Aa

1

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2 March 2018

Edwin Reyniers

3

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Sandra Kenis

4

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Lina Dom

5

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Liesbeth Rooms

7

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publication date

11 June 2012

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2 March 2018

published in

Autism Research

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2 March 2018

volume

5

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issue

4

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page(s)

277-281

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2 March 2018

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

cites work

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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

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New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

21 January 2018

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C-mip interacts with the p85 subunit of PI3 kinase and exerts a dual effect on ERK signaling via the recruitment of Dip1 and DAP kinase

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C-mip interacts physically with RelA and inhibits nuclear factor kappa B activity.

21 January 2018

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A forkhead-domain gene is mutated in a severe speech and language disorder

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Overlap between autism and specific language impairment: comparison of Autism Diagnostic Interview and Autism Diagnostic Observation Schedule scores

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21 January 2018

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CMIP and ATP2C2 modulate phonological short-term memory in language impairment

21 January 2018

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21 January 2018

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Loss of language in early development of autism and specific language impairment

21 January 2018

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

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Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

21 January 2018

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Filamin A: phenotypic diversity

21 January 2018

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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

21 January 2018

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DCDC2, KIAA0319 and CMIP are associated with reading-related traits

21 January 2018

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21 January 2018

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Strategies for conducting research on language in autism

21 January 2018

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Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment

21 January 2018

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CNV-WebStore: online CNV analysis, storage and interpretation

21 January 2018

1 reference

A functional genetic link between distinct developmental language disorders

21 January 2018

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High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders

21 January 2018

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Language in autism and specific language impairment: where are the links?

21 January 2018

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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

21 January 2018

1 reference

Genetic Overlaps in Mental Retardation, Autism and Schizophrenia

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AUR.1240

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2 March 2018

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2 March 2018