(Q51955397)

18 April 2018

title

Low frequency of MECP2 mutations in mentally retarded males. (English)

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18 April 2018

author

Erik Sistermans

7

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18 April 2018

Han G. Brunner

8

object named as

Han G Brunner

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18 April 2018

author name string

Helger G Yntema

1

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18 April 2018

Tjitske Kleefstra

2

1 reference

18 April 2018

Astrid R Oudakker

3

1 reference

18 April 2018

Tom Romein

4

1 reference

18 April 2018

Bert B A de Vries

5

1 reference

18 April 2018

Willy Nillesen

6

1 reference

18 April 2018

Ben C J Hamel

9

1 reference

18 April 2018

Hans van Bokhoven

10

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18 April 2018

publication date

1 August 2002

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18 April 2018

European Journal of Human Genetics

published in

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18 April 2018

volume

10

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18 April 2018

issue

8

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18 April 2018

page(s)

487-490

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18 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200836

exact match

0 references

cites work

Rett syndrome: Criteria for inclusion and exclusion

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

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.5200836

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

21 January 2018

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De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes

21 January 2018

1 reference

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Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

inferred from DOI database lookup

7 January 2021

based on heuristic

MeCP2 mutations in children with and without the phenotype of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200836

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200836

1 reference

18 April 2018

1 reference

18 April 2018