(Q50310098)

2 March 2018

title

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. (English)

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Jean Steyaert

object named as

Jean G Steyaert

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Joris R Vermeesch

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object named as

Joris R Vermeesch

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2 March 2018

author name string

Dries Castermans

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Karolien Volders

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An Crepel

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Connie T Schrander-Stumpel

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Wim Jm Van de Ven

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John Wm Creemers

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Koen Devriendt

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publication date

16 April 2008

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European Journal of Human Genetics

published in

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volume

16

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issue

10

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page(s)

1187-1192

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.71

exact match

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cites work

Long-range control of gene expression: emerging mechanisms and disruption in disease

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

Amisyn, a novel syntaxin-binding protein that may regulate SNARE complex assembly

21 January 2018

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Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

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21 January 2018

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Disruption of neurexin 1 associated with autism spectrum disorder

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Neuroscience. Autism's cause may reside in abnormalities at the synapse.

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Membrane fusion: caught in a trap

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i-SNAREs: inhibitory SNAREs that fine-tune the specificity of membrane fusion

21 January 2018

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SNARE regulators: matchmakers and matchbreakers

21 January 2018

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

21 January 2018

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15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.71

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

21 January 2018

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DNA methylation, heterochromatin and epigenetic carcinogens

21 January 2018

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Further delineation of the chromosome 14q terminal deletion syndrome

21 January 2018

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Amisyn Regulates Exocytosis and Fusion Pore Stability by Both Syntaxin-dependent and Syntaxin-independent Mechanisms

21 January 2018

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7 January 2021

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.71

7 January 2021

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.71

7 January 2021

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.71

7 January 2021

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.71

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.71

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2 March 2018

Dimensions Publication ID

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2 March 2018