Rett syndrome: clinical review and genetic update (Q24674633)

Journal of Medical Genetics

Europe PubMed Central

title

Rett syndrome: clinical review and genetic update (English)

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3

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John Christodoulou

object named as

J Christodoulou

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4

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author name string

L S Weaving

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1

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C J Ellaway

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2

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language of work or name

English

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publication date

January 2005

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published in

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volume

42

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issue

1

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page(s)

1-7

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cites work

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Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

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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.

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X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

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X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

28 September 2017

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Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

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

28 September 2017

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

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Prolonged QT interval in Rett syndrome

28 September 2017

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28 September 2017

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28 September 2017

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Rett syndrome: clinical peculiarities and biological mysteries

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High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders

28 September 2017

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

28 September 2017

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Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

28 September 2017

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

28 September 2017

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On a unusual brain atrophy syndrome in hyperammonemia in childhood

28 September 2017

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Motor disabilities in the Rett syndrome and physical therapy strategies.

28 September 2017

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Patterns of X chromosome inactivation in the Rett syndrome

28 September 2017

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

28 September 2017

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Guidelines for reporting clinical features in cases with MECP2 mutations

30 May 2018

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Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

30 May 2018

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Rett syndrome: habilitation and management reviewed.

30 May 2018

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Trisomy 21 and Rett syndrome: a double burden

30 May 2018

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Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

28 November 2018

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Refining the phenotype of common mutations in Rett syndrome.

28 November 2018

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Molecular biology. MeCP2 repression goes nonglobal

28 November 2018

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MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions.

28 November 2018

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Balanced X chromosome inactivation patterns in the Rett syndrome brain

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

Low frequency of MECP2 mutations in mentally retarded males.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

A Rett syndrome MECP2 mutation that causes mental retardation in men.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

Medium-term open label trial of L-carnitine in Rett syndrome.

28 November 2018

1 reference

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Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735910

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

28 November 2018

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

28 November 2018

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A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

28 November 2018

1 reference

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MeCP2 mutations in children with and without the phenotype of Rett syndrome

28 November 2018

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12 December 2020

Rett syndrome: characterization of seizures versus non-seizures

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12 December 2020

Rett syndrome: epidemiology and geographical variability

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12 December 2020

The prevalence and incidence of Rett syndrome in Australia

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12 December 2020

Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome

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12 December 2020

X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe

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12 December 2020

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

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12 December 2020

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

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12 December 2020

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

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12 December 2020

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

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12 December 2020

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

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12 December 2020

Magnesium for hyperventilation in Rett's syndrome

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12 December 2020

L-carnitine as a treatment for Rett syndrome

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12 December 2020

Rett syndrome: random X chromosome inactivation

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12 December 2020

X chromosome-inactivation patterns in patients with Rett syndrome

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12 December 2020

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

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12 December 2020

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

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12 December 2020

Electrocardiographic findings in Rett syndrome: an explanation for sudden death?

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12 December 2020

Management of Rett syndrome: a ten year experience

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12 December 2020

A comparative study of X-inactivation in Rett syndrome probands and control subjects

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12 December 2020