Genetic determinants of autism in individuals with deletions of 18q. (Q34117290)

31 July 2017

title

Genetic determinants of autism in individuals with deletions of 18q. (English)

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31 July 2017

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Louise O'Donnell

1

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31 July 2017

Bridgette Soileau

2

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31 July 2017

Patricia Heard

3

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31 July 2017

Erika Carter

4

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31 July 2017

Courtney Sebold

5

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31 July 2017

Jon Gelfond

6

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31 July 2017

Daniel E Hale

7

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Jannine D Cody

8

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31 July 2017

publication date

25 May 2010

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31 July 2017

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31 July 2017

volume

128

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31 July 2017

issue

2

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31 July 2017

page(s)

155-164

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Strong association of de novo copy number mutations with autism

31 July 2017

cites work

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12 December 2020

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

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12 December 2020

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

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12 December 2020

Sibs with tetrasomy 18p born to a mother with trisomy 18p.

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12 December 2020

Epidemiological surveys of autism and other pervasive developmental disorders: an update

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12 December 2020

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication

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12 December 2020

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

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12 December 2020

Mapping and sequencing of structural variation from eight human genomes

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12 December 2020

Structural variation of chromosomes in autism spectrum disorder

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12 December 2020

Narrowing critical regions and determining penetrance for selected 18q- phenotypes.

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12 December 2020

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.

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12 December 2020

The fine-scale and complex architecture of human copy-number variation

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12 December 2020

Fbx15 is a novel target of Oct3/4 but is dispensable for embryonic stem cell self-renewal and mouse development

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12 December 2020

18p trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis.

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12 December 2020

Mutation analysis of methyl-CpG binding protein family genes in autistic patients

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12 December 2020

High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)

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12 December 2020

Origin of a small metacentric chromosome: Familial and cytogenetic evidence

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12 December 2020

Neto1 is a novel CUB-domain NMDA receptor-interacting protein required for synaptic plasticity and learning

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12 December 2020

Global variation in copy number in the human genome

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12 December 2020

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

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12 December 2020

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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12 December 2020

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).

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12 December 2020

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

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12 December 2020

18q-mosaicism associated with Rett syndrome phenotype

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12 December 2020

Whole population, genome-wide mapping of hidden relatedness

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12 December 2020

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12 December 2020

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

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12 December 2020

Increased LIS1 expression affects human and mouse brain development

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12 December 2020

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype

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12 December 2020

Preferential loss of the paternal alleles in the 18q- syndrome

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12 December 2020

The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors

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12 December 2020

Formation of pluripotent stem cells in the mammalian embryo depends on the POU transcription factor Oct4

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12 December 2020

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation

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12 December 2020

Prevalence of autism in a US metropolitan area

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12 December 2020

Recurrent 16p11.2 microdeletions in autism

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12 December 2020

Association between microdeletion and microduplication at 16p11.2 and autism

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12 December 2020

Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay

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12 December 2020

10.1007/S00439-010-0839-Y

Identifiers

DOI

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Dimensions Publication ID

31 July 2017

1004345088

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