Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency (Q50303860)

2 March 2018

title

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

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2 March 2018

main subject

autism

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haploinsufficiency

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intellectual disability

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disability affecting intellectual abilities

inferred from title

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inferred from title

author

Jeremy Schwartzentruber

6

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2 March 2018

Niels Tommerup

18

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2 March 2018

Guy A. Rouleau

17

Guy A Rouleau

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2 March 2018

26

Jacques L Michaud

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2 March 2018

Mark A Tarnopolsky

23

Mark A Tarnopolsky

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2 March 2018

Jacek Majewski

22

Jacek Majewski

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2 March 2018

Christine M. Eng

13

Christine M Eng

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2 March 2018

Graziella Di Cristo

27

Graziella Di Cristo

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2 March 2018

Jean-Claude Lacaille

11

Jean-Claude Lacaille

1 reference

2 March 2018

Lysanne Patry

7

Lysanne Patry

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2 March 2018

Sylvia Dobrzeniecka

8

Sylvia Dobrzeniecka

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2 March 2018

Daniel Rochefort

9

Daniel Rochefort

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2 March 2018

author name string

Martin H Berryer

1

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2 March 2018

Fadi F Hamdan

2

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2 March 2018

Laura L Klitten

3

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2 March 2018

Rikke S Møller

4

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Lionel Carmant

5

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2 March 2018

Mathilde Neugnot-Cerioli

10

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Zhiyv Niu

12

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Yaping Yang

14

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2 March 2018

Sylvain Palardy

15

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Céline Belhumeur

16

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Ladonna Immken

19

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Miriam H Beauchamp

20

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2 March 2018

Gayle Simpson Patel

21

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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

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Coot: model-building tools for molecular graphics

21 January 2018

1 reference

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

21 January 2018

1 reference

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of a novel synGAP isoform, synGAP-beta

21 January 2018

1 reference

Inhibition and termination of physiological responses by GTPase activating proteins

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

State-dependent Ras signaling and AMPA receptor trafficking

21 January 2018

1 reference

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

21 January 2018

1 reference

The Ras-RasGAP Complex: Structural Basis for GTPase Activation and Its Loss in Oncogenic Ras Mutants

21 January 2018

1 reference

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

21 January 2018

1 reference

A de novo paradigm for mental retardation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.22248

1 reference

2 March 2018

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2 March 2018