(Q47261381)

12 January 2018

title

Trisomy 21 and Rett syndrome: a double burden (English)

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7

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author name string

Leonard H

1

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Weaving L

2

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Eastaugh P

3

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Smith L

4

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Delatycki M

5

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Witt Engerström I

6

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publication date

1 July 2004

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Journal of Paediatrics and Child Health

published in

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volume

40

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issue

7

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page(s)

406-409

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Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Describing the phenotype in Rett syndrome using a population database

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Family data in Rett syndrome: association with other genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Rett females: patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2004.00413.X

10.1111/J.1440-1754.2004.00413.X

21 January 2018

Identifiers

DOI

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12 January 2018

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12 January 2018