(Q44028990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

3 February 2020

main subject

disability

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author

Valérie Cormier-Daire

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Dagmar Tapon

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Stephen Robertson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

S K Holman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

T Morgan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

G Baujat

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

T-J Cho

5

1 reference

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3 February 2020

M Lees

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

J Samanich

7

1 reference

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3 February 2020

H D Hove

9

1 reference

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3 February 2020

A Hing

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

R Hennekam

11

1 reference

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3 February 2020

language of work or name

1 reference

5 July 2012

1 reference

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3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

83

1 reference

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3 February 2020

issue

3

1 reference

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3 February 2020

page(s)

251-256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

3 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Osteopathia striata with cranial sclerosis and hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Conductive hearing loss in osteopathia striata-cranial sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Osteopathia striata with cranial sclerosis. Report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Osteopathia striata with cranial sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Osteopathia striata syndrome. Clinical, genetic and radiologic considerations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Increased network excitability and impaired induction of long-term potentiation in the dentate gyrus of collybistin-deficient mice in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

Mtmr8 is essential for vasculature development in zebrafish embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

The male phenotype in osteopathia striata congenita with cranial sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01905.X

10.1111/J.1399-0004.2012.01905.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670894%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference