Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome (Q41818950)

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scientific article published on November 1998

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English	Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome	scientific article published on November 1998

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instance of

scholarly article

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

title

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome (English)

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

main subject

Coffin-Lowry syndrome

1 reference

based on heuristic

inferred from title

author

Karine Merienne

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

author name string

S Jacquot

series ordinal

2

1 reference

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Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

E Trivier

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3

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

S Pannetier

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4

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

A Rossi

series ordinal

5

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

C Scott

series ordinal

6

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

A Schinzel

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7

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Europe PubMed Central

PMC publication ID

1051479

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

C Castellan

series ordinal

8

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

W Kress

series ordinal

9

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

A Hanauer

series ordinal

10

1 reference

stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

language of work or name

English

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publication date

1 November 1998

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stated in

Europe PubMed Central

PMC publication ID

1051479

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

published in

Journal of Medical Genetics

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

volume

35

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

issue

11

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stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

page(s)

890-894

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Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

cites work

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia

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=1051479

retrieved

6 June 2018

Mutations in the kinase Rsk-2 associated with Coffin-Lowry 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=1051479

retrieved

6 June 2018

Evidence for two catalytically active kinase domains in pp90rsk

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=1051479

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6 June 2018

Signal transduction via the MAP kinases: proceed at your own RSK.

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=1051479

retrieved

6 June 2018

Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients

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=1051479

retrieved

6 June 2018

RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation

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PubMed Central

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6 June 2018

A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051479

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6 June 2018

Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's 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=1051479

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6 June 2018

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

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=1051479

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6 June 2018

The Coffin-Lowry 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=1051479

retrieved

6 June 2018

Coffin-Lowry syndrome: a multicenter study.

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=1051479

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6 June 2018

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation 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=1051479

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6 June 2018

The Coffin 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=1051479

retrieved

6 June 2018

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

1 reference

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PubMed Central

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18 August 2018

The Coffin-Lowry syndrome. Experience from four centres.

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=1051479

retrieved

18 August 2018

Identifiers

DOI

10.1136/JMG.35.11.890

1 reference

stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

PMC publication ID

1051479

1 reference

stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

PubMed publication ID

9832033

1 reference

stated in

Europe PubMed Central

PMC publication ID

1051479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832033%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 December 2019

ResearchGate publication ID

13454806

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