(Q48595549)

13 February 2018

title

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability (English)

1 reference

13 February 2018

20

Tania Attié-Bitach

0 references

Didier Lacombe

object named as

Didier Lacombe

11

0 references

Alain Verloes

12

object named as

Alain Verloes

1 reference

13 February 2018

23

Delphine Héron

1 reference

13 February 2018

Alexandra Afenjar

9

object named as

Alexandra Afenjar

1 reference

13 February 2018

author name string

Cyril Mignot

1

1 reference

13 February 2018

Marie-Laure Moutard

2

1 reference

13 February 2018

Agnès Rastetter

3

1 reference

13 February 2018

Lucile Boutaud

4

1 reference

13 February 2018

Solveig Heide

5

1 reference

13 February 2018

Thierry Billette

6

1 reference

13 February 2018

Diane Doummar

7

1 reference

13 February 2018

Catherine Garel

8

1 reference

13 February 2018

Aurélia Jacquette

10

1 reference

13 February 2018

Christine Bole-Feysot

13

1 reference

13 February 2018

Patrick Nitschké

14

1 reference

13 February 2018

Cécile Masson

15

1 reference

13 February 2018

Anne Faudet

16

1 reference

13 February 2018

Fabien Lesne

17

1 reference

13 February 2018

Thierry Bienvenu

18

1 reference

13 February 2018

Caroline Alby

19

1 reference

13 February 2018

Christel Depienne

21

1 reference

13 February 2018

Caroline Nava

22

1 reference

13 February 2018

language of work or name

English

0 references

publication date

29 July 2016

1 reference

13 February 2018

published in

Brain

1 reference

13 February 2018

volume

139

1 reference

13 February 2018

issue

11

1 reference

13 February 2018

page(s)

e64

1 reference

13 February 2018

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

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

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

Coffin-Siris syndrome is a SWI/SNF complex disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW181

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWW181

1 reference

13 February 2018

1 reference

13 February 2018