(Q38244479)

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Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 August 2017

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Coffin-Siris syndrome

1 reference

based on heuristic

inferred from title

author name string

Tomoki Kosho

1

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Noriko Miyake

2

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

John C Carey

3

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

publication date

28 August 2014

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Europe PubMed Central

PubMed publication ID

31 August 2017

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

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Europe PubMed Central

PubMed publication ID

31 August 2017

166C

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Europe PubMed Central

PubMed publication ID

31 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

241-251

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

describes a project that uses

massive parallel sequencing

1 reference

based on heuristic

inferred from title

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A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

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Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

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Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy.

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

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Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia

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

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Coffin-Siris syndrome

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Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

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Evidence that Swi/Snf directly represses transcription in S. cerevisiae

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Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

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Numerous BAF complex genes are mutated in Coffin-Siris syndrome.

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Identifiers

10.1002/AJMG.C.31415

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

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