(Q58612544)

English

A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

scientific article published on 02 November 2011

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA) (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

based on heuristic

inferred from title

epilepsy with myoclonic absences

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Rikke S Møller

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Asli Silahtaroglu

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

6

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15 January 2020

author name string

Marina Nikanorova

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Helle Hjalgrim

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Laura L Klitten

1

1 reference

Europe PubMed Central

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15 January 2020

publication date

2 November 2011

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

52

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15 January 2020

12

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Europe PubMed Central

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15 January 2020

e190-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

Myoclonic absence-like seizures and chromosome abnormality syndromes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

SynGAP regulates spine formation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

A de novo paradigm for mental retardation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03304.X

21 January 2018

Identifiers

10.1111/J.1528-1167.2011.03304.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22050443%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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