Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development (Q28282578)

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John A Crolla

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Dena Walker

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Lina Artifoni

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Takako Takano

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Pradeep Vasudevan

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Shuwen Huang

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Vivienne Maloney

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Twila Yobb

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Oliver Quarrell

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Heather E McDermid

European Journal of Human Genetics

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language of work or name

English

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publication date

November 2008

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published in

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volume

16

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page(s)

1301-10

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issue

11

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cites work

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

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Further delineation of the 22q13 deletion syndrome.

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

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22q13 deletion syndrome

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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

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22q13 deletion syndrome: an update and review for the primary pediatrician

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FISH-mapping of a 100-kb terminal 22q13 deletion

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

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Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

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

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Contribution of SHANK3 mutations to autism spectrum disorder

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Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

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Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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Systematic cloning of human minisatellites from ordered array charomid libraries.

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https://api.crossref.org/works/10.1038%2FEJHG.2008.107

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Microduplication and triplication of 22q11.2: a highly variable syndrome

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Distribution of the D15Z1 copy number polymorphism

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Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

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7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.107

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2081733

OpenCitations bibliographic resource ID

2081733

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