Rett syndrome: the complex nature of a monogenic disease (Q35128931)

6 August 2017

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title

Rett syndrome: the complex nature of a monogenic disease (English)

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6 August 2017

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Francesca Ariani

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Alessandra Renieri

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Alessandra Renieri

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Francesca Mari

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Francesca Mari

5

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author name string

Ilaria Meloni

2

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6 August 2017

Ilaria Longo

3

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6 August 2017

Chiara Pescucci

6

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6 August 2017

Franca Cambi

7

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6 August 2017

16 May 2003

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Journal of Molecular Medicine

6 August 2017

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6 August 2017

81

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6 August 2017

6

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6 August 2017

346-354

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https://scigraph.springernature.com/pub.10.1007/s00109-003-0444-9

6 August 2017

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cites work

Rett syndrome and MeCP2: linking epigenetics and neuronal function

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https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

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The Rett girls with preserved speech

21 January 2018

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21 January 2018

12 December 2020

Study of MECP2 gene in Rett syndrome variants and autistic girls.

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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/10.1007%2FS00109-003-0444-9

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Parental origin of de novo MECP2 mutations in Rett syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

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Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

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MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

21 January 2018

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Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

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Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

21 January 2018

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

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The Ski protein family is required for MeCP2-mediated transcriptional repression

21 January 2018

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MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery

21 January 2018

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Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

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Describing the phenotype in Rett syndrome using a population database

21 January 2018

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Rett syndrome in Spain: mutation analysis and clinical correlations.

21 January 2018

1 reference

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Altered methylation pattern of the G6 PD promoter in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

21 January 2018

1 reference

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MECP2 mutation in a boy with language disorder and schizophrenia

21 January 2018

1 reference

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Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

21 January 2018

1 reference

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MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

21 January 2018

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The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome.

21 January 2018

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Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

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21 January 2018

12 December 2020

Balanced X chromosome inactivation patterns in the Rett syndrome brain.

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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.

21 January 2018

1 reference

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A de novo X;3 translocation in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.

21 January 2018

1 reference

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Substance P immunoreactivity in Rett syndrome

21 January 2018

1 reference

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Neurobiology of Rett syndrome: a genetic disorder of synapse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00109-003-0444-9

Selective dendritic alterations in the cortex of Rett syndrome

21 January 2018

1 reference

12 December 2020

Two affected boys in a Rett syndrome family: clinical and molecular findings

1 reference

12 December 2020

Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

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12 December 2020

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

12 December 2020

MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex

1 reference

12 December 2020

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

1 reference

12 December 2020

The preserved speech variant of the Rett complex: a report of 8 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

18q-mosaicism associated with Rett syndrome phenotype

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12 December 2020

Neuroleptic malignant syndrome and quetiapine

1 reference

12 December 2020

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

1 reference

12 December 2020

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

1 reference

12 December 2020

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

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12 December 2020

Additional clinical and cytogenetic findings associated with Rett syndrome.

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12 December 2020

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

1 reference

12 December 2020

10.1007/S00109-003-0444-9

Identifiers

DOI

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6 August 2017

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