(Q52611846)

4 May 2018

title

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

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4 May 2018

8

Damien Sanlaville

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4 May 2018

author name string

Gaetan Lesca

1

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4 May 2018

Marianne Till

2

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Audrey Labalme

3

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Dominique Vallee

4

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Catherine Hugonenq

5

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Nicole Philip

6

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Patrick Edery

7

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4 May 2018

language of work or name

English

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publication date

27 May 2011

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

155A

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issue

7

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4 May 2018

page(s)

1706-1711

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4 May 2018

PAK3 mutation in nonsyndromic X-linked mental retardation

cites work

1 reference

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

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

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Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

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The genetic landscape of intellectual disability arising from chromosome X.

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

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X-linked mental retardation: focus on synaptic function and plasticity.

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34004

Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin

21 January 2018

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Distribution of transcripts for the brain-specific GDP/GTP exchange factor collybistin in the developing mouse brain

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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

1 reference

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

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

21 January 2018

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Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin

21 January 2018

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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34004

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4 May 2018

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4 May 2018