(Q38860014)

7 September 2017

title

Expanding the clinical picture of the MECP2 Duplication syndrome (English)

1 reference

7 September 2017

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Z Lim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

J Downs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

K Wong

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

C Ellaway

4

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7 June 2020

publication date

1 June 2016

1 reference

7 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

91

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7 June 2020

issue

4

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7 June 2020

page(s)

557-563

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

The impact of MeCP2 loss- or gain-of-function on synaptic plasticity

7 June 2020

cites work

1 reference

Developmental abnormalities of cortical interneurons precede symptoms onset in a mouse model of Rett syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

Trends in the diagnosis of Rett syndrome in Australia.

21 January 2018

1 reference

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

The MECP2 duplication syndrome.

21 January 2018

1 reference

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

1 reference

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

21 January 2018

1 reference

Neurologic aspects of MECP2 gene duplication in male patients

21 January 2018

1 reference

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

21 January 2018

1 reference

Clinical impacts of genomic copy number gains at Xq28

21 January 2018

1 reference

MECP2 duplication syndrome in both genders

21 January 2018

1 reference

InterRett, a model for international data collection in a rare genetic disorder

21 January 2018

1 reference

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

21 January 2018

1 reference

Infectious and immunologic phenotype of MECP2 duplication syndrome

21 January 2018

1 reference

Genotype and early development in Rett syndrome: the value of international data

21 January 2018

1 reference

Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

21 January 2018

1 reference

Array comparative genomic hybridization in global developmental delay.

21 January 2018

1 reference

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

1 reference

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

21 January 2018

1 reference

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

21 January 2018

1 reference

Using a large international sample to investigate epilepsy in Rett syndrome.

21 January 2018

1 reference

Valproate and risk of fracture in Rett syndrome

21 January 2018

1 reference

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

21 January 2018

1 reference

Functional disomy of the Xq28 chromosome region

21 January 2018

1 reference

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12814

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27247049%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference