(Q48867822)

16 February 2018

title

Guidelines for reporting clinical features in cases with MECP2 mutations. (English)

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author

John Christodoulou

8

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author name string

Kerr AM

1

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Nomura Y

2

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Armstrong D

3

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Anvret M

4

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Belichenko PV

5

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Budden S

6

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Cass H

7

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Clarke A

9

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Ellaway C

10

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d'Esposito M

11

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Francke U

12

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Hulten M

13

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Julu P

14

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Leonard H

15

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Naidu S

16

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Schanen C

17

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Webb T

18

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Engerstrom IW

19

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Yamashita Y

20

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Segawa M

21

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publication date

1 July 2001

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16 February 2018

published in

Brain and Development

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volume

23

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issue

4

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page(s)

208-211

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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/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Rett syndrome: a surprising result of mutation in MECP2.

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Early clinical signs in the Rett disorder

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Rett variants: a suggested model for inclusion criteria.

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

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https://api.crossref.org/works/10.1016%2FS0387-7604%2801%2900193-0

7 January 2021

Rett syndrome: a disorder affecting early brain growth

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7 January 2021

The neuropathology of Rett syndrome--overview 1994.

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7 January 2021

10.1016/S0387-7604(01)00193-0

Identifiers

DOI

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16 February 2018

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16 February 2018