Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 (Q24655864)

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English	Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3	scientific article

Statements

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

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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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