(Q34326032)

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

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1 August 2017

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

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1 August 2017

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corrigendum / erratum

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

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Hilde Van Esch

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Bernard Echenne

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Hans van Bokhoven

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Tjitske Kleefstra

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Arjan P M de Brouwer

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Helger G Yntema

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Astrid R Oudakker

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Willy M Nillesen

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Andreas Tzschach

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Dietz Rating

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Hubert Journel

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Jamel Chelly

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Cyril Goizet

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Jean-Michel Pedespan

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Gholamali Tariverdian

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Declan O'Rourke

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Mary D King

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Margriet van Kogelenberg

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Hilde Van Esch

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5 November 2008

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European Journal of Human Genetics

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444-453

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1 August 2017

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Seizure-associated abnormalities in epilepsy: evidence from MR imaging.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

X-inactivation profile reveals extensive variability in X-linked gene expression in females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Functional disomy of the Xq28 chromosome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.208

21 January 2018

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.208

21 January 2018

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.208

21 January 2018

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.208

21 January 2018

Periventricular heterotopia and epilepsy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.208

21 January 2018

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.208

21 January 2018

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986218

27 October 2018

Identifiers

10.1038/EJHG.2008.208

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

1 August 2017

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