(Q33766816)

English

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

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scholarly article

1 reference

Europe PubMed Central

29 July 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 (English)

1 reference

Europe PubMed Central

29 July 2017

haploinsufficiency

0 references

1 reference

based on heuristic

inferred from title

Severe mental retardation

1 reference

based on heuristic

inferred from title

Stéphane Auvin

object named as

S Auvin

11

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author name string

N Le Meur

1

1 reference

Europe PubMed Central

29 July 2017

M Holder-Espinasse

2

1 reference

Europe PubMed Central

29 July 2017

S Jaillard

3

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Europe PubMed Central

29 July 2017

A Goldenberg

4

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Europe PubMed Central

29 July 2017

S Joriot

5

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Europe PubMed Central

29 July 2017

P Amati-Bonneau

6

1 reference

Europe PubMed Central

29 July 2017

A Guichet

7

1 reference

Europe PubMed Central

29 July 2017

M Barth

8

1 reference

Europe PubMed Central

29 July 2017

A Charollais

9

1 reference

Europe PubMed Central

29 July 2017

H Journel

10

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Europe PubMed Central

29 July 2017

C Boucher

12

1 reference

Europe PubMed Central

29 July 2017

J-P Kerckaert

13

1 reference

Europe PubMed Central

29 July 2017

V David

14

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Europe PubMed Central

29 July 2017

S Manouvrier-Hanu

15

1 reference

Europe PubMed Central

29 July 2017

P Saugier-Veber

16

1 reference

Europe PubMed Central

29 July 2017

T Frébourg

17

1 reference

Europe PubMed Central

29 July 2017

C Dubourg

18

1 reference

Europe PubMed Central

29 July 2017

J Andrieux

19

1 reference

Europe PubMed Central

29 July 2017

D Bonneau

20

1 reference

Europe PubMed Central

29 July 2017

language of work or name

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publication date

9 July 2009

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Europe PubMed Central

29 July 2017

Journal of Medical Genetics

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Europe PubMed Central

29 July 2017

47

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29 July 2017

1

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29 July 2017

22-29

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Europe PubMed Central

29 July 2017

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=2848840

22 June 2018

Identifying autism loci and genes by tracing recent shared ancestry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

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=2848840

22 June 2018

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=2848840

22 June 2018

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

A calcium-regulated MEF2 sumoylation switch controls postsynaptic differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Activity-dependent regulation of MEF2 transcription factors suppresses excitatory synapse number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Severe expressive-language delay related to duplication of the Williams-Beuren locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency--an emerging syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Interstitial de novo deletion of the long arm of chromosome 5: mapping of 5q bands associated with particular malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

22 June 2018

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

30 October 2018

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848840

30 October 2018

Interstitial deletion in the long arm of chromosome No. 5

1 reference

https://pubmed.ncbi.nlm.nih.gov/19592390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myocyte-specific enhancer binding factor 2C expression in human brain development

1 reference

https://pubmed.ncbi.nlm.nih.gov/19592390

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/19592390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/19592390

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2009.069732

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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