(Q37172192)

English

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

scientific article published on 07 February 2013

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scholarly article

1 reference

Europe PubMed Central

18 August 2017

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways (English)

1 reference

Europe PubMed Central

18 August 2017

haploinsufficiency

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William B. Dobyns

18

1 reference

Europe PubMed Central

18 August 2017

author name string

Alex R Paciorkowski

1

1 reference

Europe PubMed Central

18 August 2017

Ryan N Traylor

2

1 reference

Europe PubMed Central

18 August 2017

Jill A Rosenfeld

3

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Europe PubMed Central

18 August 2017

Jacqueline M Hoover

4

1 reference

Europe PubMed Central

18 August 2017

Catharine J Harris

5

1 reference

Europe PubMed Central

18 August 2017

Susan Winter

6

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Europe PubMed Central

18 August 2017

Yves Lacassie

7

1 reference

Europe PubMed Central

18 August 2017

Martin Bialer

8

1 reference

Europe PubMed Central

18 August 2017

Allen N Lamb

9

1 reference

Europe PubMed Central

18 August 2017

Roger A Schultz

10

1 reference

Europe PubMed Central

18 August 2017

Elizabeth Berry-Kravis

11

1 reference

Europe PubMed Central

18 August 2017

Brenda E Porter

12

1 reference

Europe PubMed Central

18 August 2017

Marni Falk

13

1 reference

Europe PubMed Central

18 August 2017

Anu Venkat

14

1 reference

Europe PubMed Central

18 August 2017

Rena J Vanzo

15

1 reference

Europe PubMed Central

18 August 2017

Julie S Cohen

16

1 reference

Europe PubMed Central

18 August 2017

Ali Fatemi

17

1 reference

Europe PubMed Central

18 August 2017

Lisa G Shaffer

19

1 reference

Europe PubMed Central

18 August 2017

Blake C Ballif

20

1 reference

Europe PubMed Central

18 August 2017

Eric D Marsh

21

1 reference

Europe PubMed Central

18 August 2017

publication date

7 February 2013

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Europe PubMed Central

18 August 2017

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Europe PubMed Central

18 August 2017

14

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Europe PubMed Central

18 August 2017

2

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Europe PubMed Central

18 August 2017

99-111

1 reference

Europe PubMed Central

18 August 2017

https://scigraph.springernature.com/pub.10.1007/s10048-013-0356-y

0 references

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Rett syndrome: revised diagnostic criteria and nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Definition and classification of hyperkinetic movements in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Dlx1&2 and Mash1 transcription factors control MGE and CGE patterning and differentiation through parallel and overlapping pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Identification of Arx transcriptional targets in the developing basal forebrain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

MeCP2, a key contributor to neurological disease, activates and represses transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Gene expression in cortical interneuron precursors is prescient of their mature function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

MEF2: a central regulator of diverse developmental programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Rett syndrome. Current status and new vistas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Functional regulatory regions of human transcription factor MEF2C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

6 September 2017

Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

14 September 2017

The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

27 June 2018

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

27 June 2018

Refining the phenotype associated with MEF2C point mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

Refining the phenotype associated with MEF2C haploinsufficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

The organization of the transcriptional network in specific neuronal classes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

Movement disorder-childhood rating scale: reliability and validity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

FACS-array gene expression analysis during early development of mouse telencephalic interneurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773516

3 September 2018

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0356-Y

21 January 2018

Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less

1 reference

https://pubmed.ncbi.nlm.nih.gov/23389741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional gene expression analysis of tissue-specific isoforms of Mef2c

1 reference

https://pubmed.ncbi.nlm.nih.gov/23389741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23389741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of mef2 genes in the mouse central nervous system suggests a role in neuronal maturation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23389741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23389741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/23389741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-013-0356-Y

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

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