(Q53534436)

15 May 2018

title

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. (English)

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15 May 2018

X-linked intellectual disability

main subject

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disability affecting intellectual abilities

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Yukiko Kuroda

1

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15 May 2018

Ikuko Ohashi

2

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15 May 2018

Takuya Naruto

3

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15 May 2018

Kazumi Ida

4

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15 May 2018

Yumi Enomoto

5

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15 May 2018

Toshiyuki Saito

6

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15 May 2018

Jun-Ichi Nagai

7

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15 May 2018

Takahito Wada

8

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15 May 2018

Kenji Kurosawa

9

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15 May 2018

language of work or name

English

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publication date

21 April 2015

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15 May 2018

American Journal of Medical Genetics

published in

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15 May 2018

volume

167

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15 May 2018

issue

6

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15 May 2018

page(s)

1349-1353

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15 May 2018

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

Integrin beta1-mediated matrix assembly and signaling are critical for the normal development and function of the kidney glomerulus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

Fragile X and X-linked intellectual disability: four decades of discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

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.37002

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37002

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37002

1 reference

15 May 2018

1 reference

15 May 2018