(Q50310910)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11464249%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients (English)

1 reference

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9 November 2019

0 references

0 references

7

1 reference

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9 November 2019

1

Vourc'h P

1 reference

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9 November 2019

author name string

Bienvenu T

2

1 reference

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9 November 2019

Beldjord C

3

1 reference

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9 November 2019

Chelly J

4

1 reference

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9 November 2019

Barthélémy C

5

1 reference

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9 November 2019

Müh JP

6

1 reference

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9 November 2019

publication date

1 July 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11464249%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 November 2019

published in

1 reference

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9 November 2019

volume

9

1 reference

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9 November 2019

page(s)

556-558

1 reference

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9 November 2019

issue

7

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200660

9 November 2019

exact match

0 references

cites work

Autism: recent molecular genetic advances

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

X chromosome and infantile autism.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

Autism and the X chromosome. Multipoint sib-pair analysis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200660

7 January 2021

A genomic screen of autism: evidence for a multilocus etiology

1 reference

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7 January 2021

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

1 reference

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7 January 2021

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

1 reference

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7 January 2021