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Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic SyndromeMir-132/212 is required for maturation of binocular matching of orientation preference and depth perception.Keeping an eye on SOXC proteins.The role of BAF (mSWI/SNF) complexes in mammalian neural development.SOXC Transcription Factors Induce Cartilage Growth Plate Formation in Mouse Embryos by Promoting Noncanonical WNT Signaling.miR-27b shapes the presynaptic transcriptome and influences neurotransmission by silencing the polycomb group protein Bmi1SOXC Genes and the Control of Skeletogenesis.Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeBalancing Dendrite Morphogenesis and Neuronal Migration during Cortical Development.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Epigenetic Mistakes in Neurodevelopmental Disorders.Genetics of Short Stature.Molecular genetic analysis of 30 families with Joubert syndrome.Novel compound heterozygous LIAS mutations cause glycine encephalopathy.ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeHeterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Investigating genomic and phenotypic parallelism between piscivorous and planktivorous lake trout (Salvelinus namaycush) ecotypes by means of RADseq and morphometrics analyses.Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.SoxC transcription factors: multifunctional regulators of neurodevelopment.Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Duplication 2p25 in a child with clinical features of CHARGE syndrome.Phosphorylation Modulates the Subcellular Localization of SOX11.Molecular Phenotyping of Telomerized Human Bone Marrow Skeletal Stem Cells Reveals a Genetic Program of Enhanced Proliferation and Maintenance of Differentiation ResponsesPhosphorylation of the neurogenic transcription factor SOX11 on serine 133 modulates neuronal morphogenesisMutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability DisordersBAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
De novo SOX11 mutations cause Coffin-Siris syndrome
@ast
De novo SOX11 mutations cause Coffin-Siris syndrome
@en
De novo SOX11 mutations cause Coffin-Siris syndrome
@nl
type
label
De novo SOX11 mutations cause Coffin-Siris syndrome
@ast
De novo SOX11 mutations cause Coffin-Siris syndrome
@en
De novo SOX11 mutations cause Coffin-Siris syndrome
@nl
prefLabel
De novo SOX11 mutations cause Coffin-Siris syndrome
@ast
De novo SOX11 mutations cause Coffin-Siris syndrome
@en
De novo SOX11 mutations cause Coffin-Siris syndrome
@nl
P2093
P2860
P50
P3181
P356
P1476
De novo SOX11 mutations cause Coffin-Siris syndrome
@en
P2093
Eriko Koshimizu
Hirofumi Kodera
Hirofumi Ohashi
Kazuhiro Ogata
Koh-ichiro Yoshiura
Masaaki Shiina
Michiaki Yamashita
Mitsuko Nakashima
Naomichi Matsumoto
P2860
P2888
P3181
P356
10.1038/NCOMMS5011
P407
P577
2014-06-02T00:00:00Z
P6179
1048014942