Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability (Q58061148)

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14 January 2020

title

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability (English)

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X-linked intellectual disability

14 January 2020

main subject

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disability affecting intellectual abilities

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2

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14 January 2020

author name string

Gertrud Strobl-Wildemann

1

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14 January 2020

Hao Hu

3

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14 January 2020

Klaus Wrogemann

4

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14 January 2020

Hans-Hilger Ropers

5

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14 January 2020

Andreas Tzschach

6

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language of work or name

English

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publication date

14 October 2011

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American Journal of Medical Genetics

14 January 2020

published in

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14 January 2020

volume

155A

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issue

12

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14 January 2020

page(s)

3067-3070

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Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport

14 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Searching for signaling balance through the identification of genetic interactors of the Rab guanine-nucleotide dissociation inhibitor gdi-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Rab GDP dissociation inhibitor: putting rab GTPases in the right place.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Genetics of early onset cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34291

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34291

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14 January 2020

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