Clinical utility gene card for: deletion 22q13 syndrome (Q28300606)

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English	Clinical utility gene card for: deletion 22q13 syndrome	scientific article

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instance of

scholarly article

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title

Clinical utility gene card for: deletion 22q13 syndrome (English)

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2

Catalina Betancur

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author name string

Katy Phelan

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1

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language of work or name

English

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publication date

April 2011

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published in

European Journal of Human Genetics

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volume

19

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issue

4

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cites work

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

Contribution of SHANK3 mutations to autism spectrum disorder

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

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

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060317

retrieved

20 March 2017

Novel de novo SHANK3 mutation in autistic patients

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2010.193

retrieved

21 January 2018

Identifiers

DOI

10.1038/EJHG.2010.193

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Fatcat ID

release_p3q3e2uwing6dhkoxfufesoguu

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ResearchGate publication ID

49676665

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Springer Nature article ID

10.1038/ejhg.2010.193

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Clinical utility gene card for: deletion 22q13 syndrome (Q28300606)

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Clinical utility gene card for: deletion 22q13 syndrome (Q28300606)

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