(Q44377758)

2 December 2017

Refining the phenotype associated with MEF2C point mutations (English)

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2 December 2017

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Thierry Bienvenu

1

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2 December 2017

Bertrand Diebold

series ordinal

2

1 reference

2 December 2017

Jamel Chelly

series ordinal

3

1 reference

2 December 2017

Bertrand Isidor

series ordinal

4

1 reference

2 December 2017

23 September 2012

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2 December 2017

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2 December 2017

14

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2 December 2017

71-75

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2 December 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1007/s10048-012-0344-7

2 December 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

MEF2: a central regulator of diverse developmental programs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

Phosphorylation of the MADS-Box transcription factor MEF2C enhances its DNA binding activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

Functional regulatory regions of human transcription factor MEF2C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0344-7

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome

21 January 2018

1 reference

12 December 2020

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

12 December 2020

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

1 reference

12 December 2020

1 reference

12 December 2020

De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

1 reference

12 December 2020

10.1007/S10048-012-0344-7

Identifiers

DOI

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2 December 2017

1 reference