Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
about
Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomicsCongenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesIntellectual Disability: When the Hypertrichosis Is a ClueMutations in ARID2 are associated with intellectual disabilities.PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.Molecular subtyping and improved treatment of neurodevelopmental disease.The SWI/SNF BAF-A complex is essential for neural crest developmentCoffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.The BAF (BRG1/BRM-Associated Factor) chromatin-remodeling complex exhibits ethanol sensitivity in fetal neural progenitor cells and regulates transcription at the miR-9-2 encoding gene locus.Genetics of Short Stature.Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Identifying communities from multiplex biological networks.Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic statesMutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
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P2860
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Genotype-phenotype correlation ...... SMARCA4, SMARCE1, and ARID1A.
@en
type
label
Genotype-phenotype correlation ...... SMARCA4, SMARCE1, and ARID1A.
@en
prefLabel
Genotype-phenotype correlation ...... SMARCA4, SMARCE1, and ARID1A.
@en
P2093
P2860
P356
P1476
Genotype-phenotype correlation ...... SMARCA4, SMARCE1, and ARID1A.
@en
P2093
Coffin-Siris Syndrome International Collaborators
Nobuhiko Okamoto
Tomoki Kosho
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P304
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10.1002/AJMG.C.31407
P577
2014-08-28T00:00:00Z