(Q47821943)

5 February 2018

title

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

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5 February 2018

main subject

patient

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Coffin-Siris syndrome

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19

Alexander Hoischen

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5 February 2018

22

Raoul C M Hennekam

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5 February 2018

Anneke T Vulto-van Silfhout

3

object named as

Anneke T Vulto-van Silfhout

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5 February 2018

Bert B A de Vries

21

object named as

Bert B A de Vries

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5 February 2018

author name string

Gijs W E Santen

1

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5 February 2018

Emmelien Aten

2

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5 February 2018

Caroline Pottinger

4

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5 February 2018

Bregje W M van Bon

5

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5 February 2018

Ivonne J H M van Minderhout

6

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5 February 2018

Ronelle Snowdowne

7

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5 February 2018

Christian A C van der Lans

8

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5 February 2018

Merel Boogaard

9

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5 February 2018

Margot M L Linssen

10

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5 February 2018

Linda Vijfhuizen

11

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5 February 2018

Michiel J R van der Wielen

12

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5 February 2018

M J Ellen Vollebregt

13

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5 February 2018

Coffin-Siris consortium

14

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5 February 2018

Martijn H Breuning

15

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5 February 2018

Marjolein Kriek

16

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5 February 2018

Arie van Haeringen

17

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5 February 2018

Johan T den Dunnen

18

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5 February 2018

Jill Clayton-Smith

20

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5 February 2018

Martine J van Belzen

23

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5 February 2018

publication date

30 August 2013

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5 February 2018

published in

Human Mutation

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5 February 2018

volume

34

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5 February 2018

issue

11

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5 February 2018

page(s)

1519-1528

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5 February 2018

A method and server for predicting damaging missense mutations

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ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a

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ARID1A, a factor that promotes formation of SWI/SNF-mediated chromatin remodeling, is a tumor suppressor in gynecologic cancers

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

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ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

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Next-generation sequencing demands next-generation phenotyping

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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

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Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

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RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family

21 January 2018

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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Novel mutations target distinct subgroups of medulloblastoma.

21 January 2018

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From neural development to cognition: unexpected roles for chromatin

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Loss of ARID1A/BAF250a-expression in endometriosis: a biomarker for risk of carcinogenic transformation?

21 January 2018

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

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

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

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The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

21 January 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

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Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

21 January 2018

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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

21 January 2018

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Nicolaides-Baraitser syndrome: Delineation of the phenotype

21 January 2018

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Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

21 January 2018

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

21 January 2018

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

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Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

21 January 2018

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ARID1A mutations in endometriosis-associated ovarian carcinomas

21 January 2018

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SWI/SNF nucleosome remodellers and cancer.

21 January 2018

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Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome

21 January 2018

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7 January 2021

What to call a syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22394

7 January 2021

The landscape of cancer genes and mutational processes in breast cancer

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7 January 2021

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22394

1 reference

5 February 2018

1 reference

5 February 2018