(Q44783752)

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

scientific article published in August 2013

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6 March 2020

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

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publication date

1 August 2013

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Human Molecular Genetics

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6 March 2020

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6 March 2020

5121-5135

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6 March 2020

Mechanism(s) of SWI/SNF-induced nucleosome mobilization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

An unusual syndrome with mental retradation and sparse hair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Nicolaides-Baraitser syndrome: Delineation of the phenotype

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

The biology of chromatin remodeling complexes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Opposing effects of SWI/SNF and Mi-2/NuRD chromatin remodeling complexes on epigenetic reprogramming by EBF and Pax5.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

Modernizing reference genome assemblies

1 reference

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21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT366

21 January 2018

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