Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q36757032)
Watch
English
MECP2 mutations in males.
scientific article published on 9 March 2007
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
MECP2 mutations in males
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
author
Laurent Villard
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
author name string
Laurent Villard
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
retrieved
16 August 2017
language of work or name
English
0 references
publication date
9 March 2007
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
volume
44
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
issue
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
page(s)
417-423
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
cites work
X-inactivation and human disease: X-linked dominant male-lethal disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Rett syndrome in Australia: a review of the epidemiology.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Rett syndrome. Current status and new vistas
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
29 September 2017
Early progressive encephalopathy in boys and MECP2 mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
28 June 2018
Classic Rett syndrome in a boy with R133C mutation of MECP2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
28 June 2018
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
28 June 2018
Rett syndrome: Criteria for inclusion and exclusion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
28 June 2018
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Clinical profile of a male with Rett syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 mutation analysis in patients with mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
No correlation between phenotype and genotype in boys with a truncating MECP2 mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
A Rett patient with a typical Angelman EEG.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Low frequency of MECP2 mutations in mentally retarded males.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Rett syndrome: clinical manifestations in males with MECP2 mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
A Rett syndrome MECP2 mutation that causes mental retardation in men.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 mutation in a boy with language disorder and schizophrenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Occurrence of Rett syndrome in boys.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 is highly mutated in X-linked mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
MECP2 mutation in male patients with non-specific X-linked mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
Rett variants: a suggested model for inclusion criteria.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
5 September 2018
In-frame deletion inMECP2 causes mild nonspecific mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597995
retrieved
4 December 2018
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Two affected boys in a Rett syndrome family: clinical and molecular findings
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Large genomic rearrangements in MECP2
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
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
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17351020
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.2007.049452
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
PMC publication ID
2597995
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
PubMed publication ID
17351020
1 reference
stated in
Europe PubMed Central
PMC publication ID
2597995
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17351020%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 December 2019
ResearchGate publication ID
6456061
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit