(Q37493056)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674175%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability (English)

1 reference

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1 March 2020

0 references

1 reference

4

1 reference

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1 March 2020

Isabelle Touitou

14

1 reference

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1 March 2020

18

Severine Drunat

1 reference

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1 March 2020

author name string

Frederic Tran Mau-Them

1

1 reference

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1 March 2020

Marjolaine Willems

2

1 reference

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1 March 2020

Beate Albrecht

3

1 reference

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1 March 2020

Jacques Puechberty

5

1 reference

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1 March 2020

Sabine Endele

6

1 reference

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1 March 2020

Anouck Schneider

7

1 reference

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1 March 2020

Nathalie Ruiz Pallares

8

1 reference

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1 March 2020

Chantal Missirian

9

1 reference

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1 March 2020

Francois Rivier

10

1 reference

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1 March 2020

Manon Girard

11

1 reference

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1 March 2020

Muriel Holder

12

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1 March 2020

Sylvie Manouvrier

13

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1 March 2020

Genevieve Lefort

15

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1 March 2020

Pierre Sarda

16

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1 March 2020

Anne Moncla

17

1 reference

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1 March 2020

Dagmar Wieczorek

19

1 reference

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1 March 2020

David Genevieve

20

1 reference

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1 March 2020

publication date

15 May 2013

1 reference

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European Journal of Human Genetics

1 March 2020

published in

1 reference

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1 March 2020

volume

22

1 reference

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1 March 2020

issue

2

1 reference

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1 March 2020

page(s)

289-292

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.113

1 March 2020

exact match

0 references

cites work

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Fragile X and X-linked intellectual disability: four decades of discovery

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

A winged-helix transcription factor foxg1 induces expression of mss4 gene in rat hippocampal progenitor cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

X-linked intellectual disability: unique vulnerability of the male genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

X-linked mental retardation: many genes for a complex disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

The transcriptional repressor Mecp2 regulates terminal neuronal differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Rho proteins, mental retardation and the cellular basis of cognition

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Small GTP-binding proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Nomenclature guidelines for X-linked mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

MeCP2 involvement in the regulation of neuronal alpha-tubulin production

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Modulation of RhoGTPases improves the behavioral phenotype and reverses astrocytic deficits in a mouse model of Rett syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

X-linked Mental Retardation Without Physical Abnormality: Renpenning's Syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Altered microtubule dynamics in Mecp2-deficient astrocytes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

Pericentromeric genes for non-specific X-linked mental retardation (MRX)

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895633

3 December 2018

Identifiers

DOI

10.1038/EJHG.2013.113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674175%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

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1 March 2020

PubMed publication ID

23674175

1 reference