(Q51932175)

17 April 2018

title

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males. (English)

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17 April 2018

author

Fiona Francis

2

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Karine Poirier

object named as

Karine Poirier

1

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author name string

Ben Hamel

3

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Claude Moraine

4

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17 April 2018

Jean Pierre Fryns

5

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17 April 2018

Hans H Ropers

6

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Jamel Chelly

7

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17 April 2018

Thierry Bienvenu

8

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17 April 2018

publication date

1 May 2005

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17 April 2018

European Journal of Human Genetics

published in

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volume

13

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17 April 2018

issue

5

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17 April 2018

page(s)

523-524

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17 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201399

exact match

0 references

cites work

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201399

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5201399

1 reference

17 April 2018

PubMed ID

15770224

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17 April 2018