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Rett syndrome. Current status and new vistas
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Rett syndrome. Current status and new vistas
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
main subject
Rett syndrome
0 references
author
Alan K. Percy
series ordinal
1
object named as
Alan K Percy
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
publication date
1 November 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
volume
20
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
page(s)
1125-1141
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
cites work
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
1 reference
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7 January 2021
based on heuristic
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Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.
1 reference
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Crossref
reference URL
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7 January 2021
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
Rett syndrome: Criteria for inclusion and exclusion
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
The Rett girls with preserved speech
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Rett variants: a suggested model for inclusion criteria.
1 reference
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reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MeCP2 mutations in children with and without the phenotype of Rett syndrome
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Occurrence of Rett syndrome in boys.
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome in a boy with a 47,XXY karyotype
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two affected boys in a Rett syndrome family: clinical and molecular findings
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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News and comment
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
1 reference
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
MECP2 mutation in male patients with non-specific X-linked mental retardation.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome: characterization of seizures versus non-seizures
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
EEG development in Rett syndrome. A study of 30 cases.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Lamotrigine in Rett syndrome: treatment experience from a pilot study.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
Lamotrigine in Rett syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen
1 reference
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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Rett's syndrome: characterization of respiratory patterns and sleep
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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Hyperventilation in the awake state: potentially treatable component of Rett syndrome
1 reference
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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Scoliosis in Rett syndrome. Clinical and biological aspects
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
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Gross motor disability and head growth in Rett syndrome--a preliminary report
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hand and foot growth failure in Rett syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
Altered energy balance may account for growth failure in Rett syndrome
1 reference
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
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Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
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Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Organ growth in Rett syndrome: a postmortem examination analysis.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
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Microscopic Observations of the Brain in Rett Syndrome
1 reference
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https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Neuropathology of Rett syndrome
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dendrites, dementia and the Down syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of neocortex in three males with the fragile X syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
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Puppet-like syndrome of Angelman: a pathologic and neurochemical study
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Neuropathology of infantile autism.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
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inferred from DOI database lookup
Molecular approaches to the Rett syndrome gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
MECP2 mutations account for most cases of typical forms of Rett syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome: a surprising result of mutation in MECP2.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Methyl-CpG-binding protein 2 mutations in Rett syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation screening in Rett syndrome patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preserved speech variant is allelic of classic Rett syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preserved speech variants of the Rett syndrome: molecular and clinical analysis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MECP2 is highly mutated in X-linked mental retardation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA methylation in health and disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Developmental pattern of gene-specific DNA methylation in the mouse embryo and germ line
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene number, noise reduction and biological complexity
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeat expansions in neurological disease
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900022-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0733-8619(02)00022-1
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
PubMed ID
12616684
1 reference
stated in
Europe PubMed Central
PubMed ID
12616684
retrieved
6 August 2017
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