(Q41931846)

14 October 2017

title

Coffin-Siris syndrome is a SWI/SNF complex disorder (English)

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14 October 2017

main subject

Coffin-Siris syndrome

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1

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14 October 2017

H Saitsu

16

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author name string

N Okamoto

2

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14 October 2017

H Ohashi

3

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14 October 2017

S Mizuno

4

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14 October 2017

N Matsumoto

5

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14 October 2017

Y Makita

6

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14 October 2017

M Fukuda

7

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14 October 2017

B Isidor

8

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14 October 2017

J Perrier

9

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14 October 2017

S Aggarwal

10

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14 October 2017

A B Dalal

11

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14 October 2017

A Al-Kindy

12

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14 October 2017

J Liebelt

13

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14 October 2017

D Mowat

14

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14 October 2017

M Nakashima

15

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14 October 2017

N Miyake

17

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14 October 2017

N Matsumoto

18

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14 October 2017

publication date

23 July 2013

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14 October 2017

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14 October 2017

volume

85

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14 October 2017

issue

6

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14 October 2017

page(s)

548-554

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

14 October 2017

cites work

1 reference

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

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SWI/SNF gene variants and glioma risk and outcome.

21 January 2018

1 reference

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

21 January 2018

1 reference

SWI/SNF nucleosome remodellers and cancer.

21 January 2018

1 reference

SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions

21 January 2018

1 reference

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome

21 January 2018

1 reference

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

21 January 2018

1 reference

From neural development to cognition: unexpected roles for chromatin

21 January 2018

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The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases

21 January 2018

1 reference

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

21 January 2018

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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12225

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14 October 2017

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