(Q38244379)

31 August 2017

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. (English)

1 reference

genotype-phenotype correlation

31 August 2017

1 reference

based on heuristic

inferred from title

Coffin-Siris syndrome

1 reference

Tomoki Kosho

1

1 reference

PubMed ID

25168959

31 August 2017

Nobuhiko Okamoto

series ordinal

2

1 reference

PubMed ID

25168959

31 August 2017

Coffin-Siris Syndrome International Collaborators

series ordinal

3

1 reference

31 August 2017

28 August 2014

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

31 August 2017

1 reference

31 August 2017

166C

1 reference

31 August 2017

262-275

1 reference

31 August 2017

3

1 reference

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study

31 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

21 January 2018

Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

INI1 mutations in meningiomas at a potential hotspot in exon 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

Coffin-Siris syndrome is a SWI/SNF complex disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31407

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/10.1002%2FAJMG.C.31407

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/10.1002%2FAJMG.C.31407

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31407

1 reference

31 August 2017

1 reference

PubMed ID

25168959