(Q50303860)

2 March 2018

title

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. (English)

1 reference

2 March 2018

main subject

autism

0 references

haploinsufficiency

0 references

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

inferred from title

author

Jeremy Schwartzentruber

6

1 reference

2 March 2018

Niels Tommerup

18

1 reference

2 March 2018

Guy A. Rouleau

17

Guy A Rouleau

1 reference

2 March 2018

26

Jacques L Michaud

1 reference

2 March 2018

Mark A Tarnopolsky

23

Mark A Tarnopolsky

1 reference

2 March 2018

Jacek Majewski

22

Jacek Majewski

1 reference

2 March 2018

Christine M. Eng

13

Christine M Eng

1 reference

2 March 2018

Graziella Di Cristo

27

Graziella Di Cristo

1 reference

2 March 2018

Jean-Claude Lacaille

11

Jean-Claude Lacaille

1 reference

2 March 2018

Lysanne Patry

7

Lysanne Patry

1 reference

2 March 2018

Sylvia Dobrzeniecka

8

Sylvia Dobrzeniecka

1 reference

2 March 2018

Daniel Rochefort

9

Daniel Rochefort

1 reference

2 March 2018

author name string

Martin H Berryer

1

1 reference

2 March 2018

Fadi F Hamdan

2

1 reference

2 March 2018

Laura L Klitten

3

1 reference

2 March 2018

Rikke S Møller

4

1 reference

2 March 2018

Lionel Carmant

5

1 reference

2 March 2018

Mathilde Neugnot-Cerioli

10

1 reference

2 March 2018

Zhiyv Niu

12

1 reference

2 March 2018

Yaping Yang

14

1 reference

2 March 2018

Sylvain Palardy

15

1 reference

2 March 2018

Céline Belhumeur

16

1 reference

2 March 2018

Ladonna Immken

19

1 reference

2 March 2018

Miriam H Beauchamp

20

1 reference

2 March 2018

Gayle Simpson Patel

21

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2 March 2018

Klaus Scheffzek

24

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2 March 2018

Helle Hjalgrim

25

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2 March 2018

publication date

12 December 2012

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2 March 2018

published in

Human Mutation

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2 March 2018

volume

34

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2 March 2018

issue

2

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2 March 2018

page(s)

385-394

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2 March 2018

A method and server for predicting damaging missense mutations

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1 reference

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Generation of a Phenotypic Array of Hypothalamic Neuronal Cell Models to Study Complex Neuroendocrine Disorders

21 January 2018

1 reference

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SynGAP regulates steady-state and activity-dependent phosphorylation of cofilin.

21 January 2018

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Experience and activity-dependent maturation of perisomatic GABAergic innervation in primary visual cortex during a postnatal critical period.

21 January 2018

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GAD67-mediated GABA synthesis and signaling regulate inhibitory synaptic innervation in the visual cortex

21 January 2018

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Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of Schizophrenia

21 January 2018

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De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

1 reference

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation

21 January 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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Characterization of a novel synGAP isoform, synGAP-beta

21 January 2018

1 reference

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Inhibition and termination of physiological responses by GTPase activating proteins

21 January 2018

1 reference

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Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP.

21 January 2018

1 reference

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The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction

21 January 2018

1 reference

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Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

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State-dependent Ras signaling and AMPA receptor trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants

21 January 2018

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

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Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

21 January 2018

1 reference

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A de novo paradigm for mental retardation.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

7 January 2021

inferred from DOI database lookup

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22248

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.22248

1 reference

2 March 2018

1 reference

2 March 2018