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English
X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
main subject
pathogenesis
0 references
author
Shinichi Hirose
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
author name string
Akihisa Mitsudome
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
publication date
1 April 2003
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
published in
Brain and Development
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
volume
25
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
page(s)
161-165
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
cites work
Monogenic causes of X-linked mental retardation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
XLMR genes: update 2000.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic abnormalities underlying familial epilepsy syndromes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900169-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0387-7604(02)00169-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
PubMed publication ID
12689693
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12689693
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12689693%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
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