The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome (Q34733514)

4 August 2017

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title

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome (English)

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4 August 2017

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Joanna Dragich

3

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author name string

Sara Hammer

1

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4 August 2017

Naghmeh Dorrani

2

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4 August 2017

Shinichi Kudo

4

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4 August 2017

Carolyn Schanen

5

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4 August 2017

publication date

1 January 2002

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Mental Retardation and Developmental Disabilities Research Reviews

4 August 2017

published in

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4 August 2017

volume

8

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4 August 2017

issue

2

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4 August 2017

page(s)

94-98

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

4 August 2017

cites work

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

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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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MECP2 is highly mutated in X-linked mental retardation

21 January 2018

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DNA recognition by the methyl-CpG binding domain of MeCP2.

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Nonspecific X-linked mental retardation II: the frequency in British Columbia.

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

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Male Rett syndrome variant: application of diagnostic criteria

21 January 2018

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Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems

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

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Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1

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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A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

21 January 2018

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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

21 January 2018

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Neonatal encephalopathy in two boys in families with recurrent Rett syndrome

21 January 2018

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[Rett phenotype in patient with XXY karyotype: case report]

21 January 2018

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Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

21 January 2018

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The solution structure of the domain from MeCP2 that binds to methylated DNA

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MRDD.10023

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4 August 2017

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