(Q41939126)

14 October 2017

title

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features (English)

1 reference

14 October 2017

10

Nadia Bahi-Buisson

1 reference

14 October 2017

Imen Rejeb

1

1 reference

14 October 2017

Yoann Saillour

2

1 reference

14 October 2017

Laetitia Castelnau

3

1 reference

14 October 2017

Cédric Julien

4

1 reference

14 October 2017

Thierry Bienvenu

5

1 reference

14 October 2017

Patricia Taga

6

1 reference

14 October 2017

Habiba Chaabouni

7

1 reference

14 October 2017

Jamel Chelly

8

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14 October 2017

Lamia Ben Jemaa

9

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14 October 2017

language of work or name

1 reference

4 June 2008

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14 October 2017

number of pages

6

1 reference

European Journal of Human Genetics

inferred from page(s)

published in

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14 October 2017

volume

16

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14 October 2017

issue

11

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14 October 2017

page(s)

1358-1363

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.103

14 October 2017

exact match

0 references

cites work

Non-specific X linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Genetics and pathophysiology of mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

PAK3 mutation in nonsyndromic X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

PAK promotes morphological changes by acting upstream of Rac.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

X-linked mental retardation with dystonic movements of the hands

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.103

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.103

1 reference

Dimensions Publication ID

14 October 2017

1019085845

0 references

1 reference