Rett syndrome. Current status and new vistas (Q35077740)

6 August 2017

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title

Rett syndrome. Current status and new vistas (English)

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6 August 2017

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1

Alan K Percy

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6 August 2017

1 November 2002

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6 August 2017

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6 August 2017

20

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6 August 2017

4

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6 August 2017

1125-1141

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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

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome: Criteria for inclusion and exclusion

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

The Rett girls with preserved speech

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett variants: a suggested model for inclusion criteria.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Occurrence of Rett syndrome in boys.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome in a boy with a 47,XXY karyotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

1 reference

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome: characterization of seizures versus non-seizures

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

EEG development in Rett syndrome. A study of 30 cases.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Lamotrigine in Rett syndrome: treatment experience from a pilot study.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Lamotrigine in Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett's syndrome: characterization of respiratory patterns and sleep.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Hyperventilation in the awake state: potentially treatable component of Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Scoliosis in Rett syndrome. Clinical and biological aspects

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Gross motor disability and head growth in Rett syndrome--a preliminary report

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Hand and foot growth failure in Rett syndrome.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Altered energy balance may account for growth failure in Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Organ growth in Rett syndrome: a postmortem examination analysis.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Microscopic Observations of the Brain in Rett Syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Neuropathology of Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Dendrites, dementia and the Down syndrome.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Analysis of neocortex in three males with the fragile X syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Puppet-like syndrome of Angelman: a pathologic and neurochemical study

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Neuropathology of infantile autism.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Molecular approaches to the Rett syndrome gene

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome: a surprising result of mutation in MECP2.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Methyl-CpG-binding protein 2 mutations in Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Mutation screening in Rett syndrome patients.

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Preserved speech variant is allelic of classic Rett syndrome

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

MECP2 is highly mutated in X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

DNA methylation in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Developmental pattern of gene-specific DNA methylation in the mouse embryo and germ line

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Gene number, noise reduction and biological complexity

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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

Trinucleotide repeat expansions in neurological disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1

7 January 2021

10.1016/S0733-8619(02)00022-1

Identifiers

DOI

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6 August 2017

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PubMed ID

12616684