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Mutation screening in Rett syndrome patients.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
title
Mutation screening in Rett syndrome patients
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
main subject
Rett syndrome
0 references
author
Mark E. S. Bailey
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
author name string
F Xiang
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
S Buervenich
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
P Nicolao
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Z Zhang
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
M Anvret
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
language of work or name
English
0 references
publication date
1 April 2000
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
volume
37
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
page(s)
250-255
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
cites work
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=1734556
retrieved
12 July 2018
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=1734556
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12 July 2018
Linkage analysis in Rett syndrome families suggests that there may be a critical region at 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=1734556
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12 July 2018
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
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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=1734556
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12 July 2018
Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq
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=1734556
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12 July 2018
Rett syndrome: a disorder affecting early brain growth
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
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PubMed Central
reference URL
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12 July 2018
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
UBE3A/E6-AP mutations cause Angelman syndrome
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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=1734556
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12 July 2018
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
SOX3 is an X-linked gene related to SRY
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
Developmental changes in the expression of gamma-aminobutyric acidA/benzodiazepine receptor subunit mRNAs in the murine inferior olivary complex.
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PubMed Central
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12 July 2018
Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
Practical and theoretical considerations concerning the genetics of the 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=1734556
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12 July 2018
A "housekeeping" gene on the X chromosome encodes a protein similar to ubiquitin
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
Sensitive mRNA detection using unfixed tissue: combined radioactive and non-radioactive in situ hybridization histochemistry
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
The ubiquitin-conjugation system
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
The distribution of thirteen GABAA receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734556
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12 July 2018
Region-specific expression of GABAA receptor alpha 3 and alpha 4 subunits mRNAs in the rat brain
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=1734556
retrieved
12 July 2018
The distribution of 13 GABAA receptor subunit mRNAs in the rat brain. II. Olfactory bulb and cerebellum.
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=1734556
retrieved
12 July 2018
The distribution of 13 GABAA receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon
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=1734556
retrieved
12 July 2018
Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10745042
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Another model for the inheritance of Rett syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10745042
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.37.4.250
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PMC publication ID
1734556
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PubMed publication ID
10745042
1 reference
stated in
Europe PubMed Central
PMC publication ID
1734556
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10745042%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
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