(Q28282578)

1

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John A Crolla

2

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Dena Walker

3

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Lina Artifoni

4

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Takako Takano

6

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Pradeep Vasudevan

7

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Shuwen Huang

8

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Vivienne Maloney

9

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Twila Yobb

10

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Oliver Quarrell

11

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Heather E McDermid

European Journal of Human Genetics

12

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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

1 reference

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

7 January 2021

Further delineation of the 22q13 deletion syndrome.

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

22q13 deletion syndrome

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Contribution of SHANK3 mutations to autism spectrum disorder

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Systematic cloning of human minisatellites from ordered array charomid libraries.

1 reference

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

7 January 2021

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

1 reference

7 January 2021

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

1 reference

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

7 January 2021

Distribution of the D15Z1 copy number polymorphism

1 reference

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

7 January 2021

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

1 reference

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

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

1 reference