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Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
case report
0 references
title
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
main subject
horizontal gaze palsy with progressive scoliosis
0 references
scoliosis
1 reference
based on heuristic
inferred from title
heterozygosity
1 reference
based on heuristic
inferred from title
author
Neil R Friedman
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
author name string
W-M Chan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
E I Traboulsi
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
B Arthur
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
C Andrews
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
E C Engle
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
language of work or name
English
0 references
publication date
1 March 2006
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
volume
43
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
page(s)
e11
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
cites work
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
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=2563249
retrieved
7 April 2017
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
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=2563249
retrieved
7 April 2017
The divergent Robo family protein rig-1/Robo3 is a negative regulator of slit responsiveness required for midline crossing by commissural axons
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=2563249
retrieved
7 April 2017
The slit receptor Rig-1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons
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=2563249
retrieved
7 April 2017
Progressive scoliosis associated with lateral gaze palsy.
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=2563249
retrieved
28 September 2017
Scoliosis associated with congenital brain-stem abnormalities. A report of eight 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=2563249
retrieved
28 September 2017
Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze
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=2563249
retrieved
28 September 2017
Congenital horizontal gaze palsy and kyphoscoliosis
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=2563249
retrieved
30 May 2018
Development of scoliosis in cases with congenital organic abnormalities of the brain-stem. A report of 7 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=2563249
retrieved
30 May 2018
Congenital scoliosis associated with encephalopathy in five children of two families
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=2563249
retrieved
30 May 2018
Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis
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=2563249
retrieved
28 November 2018
Identifiers
DOI
10.1136/JMG.2005.035436
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PMC publication ID
2563249
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PubMed publication ID
16525029
1 reference
stated in
Europe PubMed Central
PMC publication ID
2563249
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525029%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
ResearchGate publication ID
7253380
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