(Q58061411)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807877%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

In-frame deletion in MECP2 causes mild nonspecific mental retardation (English)

1 reference

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6 December 2019

5

1 reference

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6 December 2019

Vera M. Kalscheuer

7

1 reference

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6 December 2019

author name string

Tjitske Kleefstra

3

1 reference

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6 December 2019

Jamel Chelly

6

1 reference

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6 December 2019

Jean-Pierre Fryns

8

1 reference

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6 December 2019

Martine Raynaud

9

1 reference

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6 December 2019

Marie-Pierre Moizard

10

1 reference

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6 December 2019

Claude Moraine

11

1 reference

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6 December 2019

Helger G Yntema

1

1 reference

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6 December 2019

Astrid R Oudakker

2

1 reference

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6 December 2019

Ben C J Hamel

4

1 reference

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6 December 2019

publication date

1 January 2002

1 reference

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American Journal of Medical Genetics Part A

6 December 2019

published in

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6 December 2019

volume

107

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6 December 2019

issue

1

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6 December 2019

page(s)

81-83

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

MECP2 is highly mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Rett syndrome: Criteria for inclusion and exclusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

Two affected boys in a Rett syndrome family: clinical and molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10085

21 January 2018

Identifiers

DOI

10.1002/AJMG.10085

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807877%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference