(Q50310385)

2 March 2018

title

Preserved speech variants of the Rett syndrome: molecular and clinical analysis. (English)

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2 March 2018

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Zappella M

1

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2 March 2018

Meloni I

2

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2 March 2018

Longo I

3

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2 March 2018

Hayek G

4

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2 March 2018

Renieri A

5

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2 March 2018

publication date

1 November 2001

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2 March 2018

American Journal of Medical Genetics Part A

published in

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2 March 2018

volume

104

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2 March 2018

page(s)

14-22

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2 March 2018

issue

1

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2 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

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.10005

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

Rett variants: a suggested model for inclusion criteria.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

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.10005

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10005

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

The Rett girls with preserved speech

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10005

21 January 2018

Identifiers

DOI

10.1002/AJMG.10005

1 reference

2 March 2018

PubMed ID

11746022

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2 March 2018