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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Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesStructural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) ComplexDe Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsGeneration of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.Crystal structure of a nuclear actin ternary complexIn Brief: Picturing the complex world of chromatin remodelling families.The chromatin-remodeling subunit Baf200 promotes homology-directed DNA repair and regulates distinct chromatin-remodeling complexes.Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Epigenetic Mistakes in Neurodevelopmental Disorders.Successful difficult airway management of a child with Coffin-siris syndromeChromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Ovarian Cancers: Genetic Abnormalities, Tumor Heterogeneity and Progression, Clonal Evolution and Cancer Stem Cells.Mutations 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.Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
P2860
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P2860
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
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
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2014年學術文章
@zh-hant
name
Coffin-Siris syndrome and rela ...... ng next generation sequencing.
@en
type
label
Coffin-Siris syndrome and rela ...... ng next generation sequencing.
@en
prefLabel
Coffin-Siris syndrome and rela ...... ng next generation sequencing.
@en
P2093
P2860
P356
P1476
Coffin-Siris syndrome and rela ...... ng next generation sequencing.
@en
P2093
John C Carey
Noriko Miyake
Tomoki Kosho
P2860
P304
P356
10.1002/AJMG.C.31415
P577
2014-08-28T00:00:00Z