(Q52606025)

4 May 2018

title

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. (English)

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4 May 2018

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Kinga Hadzsiev

1

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4 May 2018

Noemi Polgar

2

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4 May 2018

Judit Bene

3

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4 May 2018

Katalin Komlosi

4

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4 May 2018

Judit Karteszi

5

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4 May 2018

Katalin Hollody

6

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4 May 2018

Gyorgy Kosztolanyi

7

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4 May 2018

Alessandra Renieri

8

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4 May 2018

Bela Melegh

9

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4 May 2018

publication date

16 December 2010

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4 May 2018

Journal of Human Genetics

published in

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4 May 2018

volume

56

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4 May 2018

issue

3

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4 May 2018

page(s)

183-187

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4 May 2018

Clinical manifestations and stages of Rett syndrome

cites work

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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21 January 2018

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

The prevalence of Rett syndrome in Fukui prefecture

21 January 2018

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Rett syndrome: geographic variation in prevalence in Norway

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

MeCP2 dysfunction in Rett syndrome and related disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

DNA methylation and Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery

21 January 2018

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Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

FOXG1 is responsible for the congenital variant of Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9

21 January 2018

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Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

21 January 2018

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21 January 2018

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

21 January 2018

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

21 January 2018

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Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

21 January 2018

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Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

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The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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/10.1038%2FJHG.2010.156

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms

21 January 2018

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Clinical profile of a male with Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

7 January 2021

Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

7 January 2021

Spectrum of MECP2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

7 January 2021

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

7 January 2021

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.156

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.156

1 reference

4 May 2018

1 reference

4 May 2018