(Q37045116)

17 August 2017

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth (English)

1 reference

disability affecting intellectual abilities

17 August 2017

0 references

autism spectrum disorder

0 references

0 references

1 reference

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

3

1 reference

17 August 2017

1

Lionel Van Maldergem

0 references

Sébastien Moutton

Sébastien Moutton

11

0 references

Laurent Villard

Laurent Villard

16

0 references

Laurence Colleaux

Laurence Colleaux

14

0 references

Stefan Haas

Stefan A Haas

9

0 references

author name string

Qingming Hou

2

1 reference

17 August 2017

Marlène Rio

4

1 reference

17 August 2017

Martine Doco-Fenzy

5

1 reference

17 August 2017

Ana Medeira

6

1 reference

17 August 2017

Arjan P M de Brouwer

7

1 reference

17 August 2017

Christelle Cabrol

8

1 reference

17 August 2017

Pierre Cacciagli

10

1 reference

17 August 2017

Emilie Landais

12

1 reference

17 August 2017

Jacques Motte

13

1 reference

17 August 2017

Céline Bonnet

15

1 reference

17 August 2017

Juliette Dupont

17

1 reference

17 August 2017

Heng-Ye Man

18

1 reference

17 August 2017

24 April 2013

1 reference

17 August 2017

Human Molecular Genetics

1 reference

17 August 2017

22

1 reference

17 August 2017

16

1 reference

17 August 2017

3306-3314

1 reference

Synaptic pathology of Down syndrome

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Bioenergy sensing in the brain: the role of AMP-activated protein kinase in neuronal metabolism, development and neurological diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Balanced translocations in mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

X-linked mental retardation: focus on synaptic function and plasticity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Homeostatic regulation of AMPA receptor expression at single hippocampal synapses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Regulation of {alpha}-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking through PKA phosphorylation of the Glu receptor 1 subunit

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Autism and abnormal development of brain connectivity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

AMP-activated protein kinase regulates neuronal polarization by interfering with PI 3-kinase localization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

The construct validity of the Griffiths Scales of Mental Development.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

X-linked mental retardation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3723314

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT187

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT187

1 reference

17 August 2017

1 reference

17 August 2017

1 reference