Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome
about
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesSwitching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortexFrom trans to cis: transcriptional regulatory networks in neocortical developmentTooth agenesis and orofacial clefting: genetic brothers in arms?TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.Transcriptional dysregulation of neocortical circuit assembly in ASDArray-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.The clinical significance of small copy number variants in neurodevelopmental disordersRefining analyses of copy number variation identifies specific genes associated with developmental delayA gene expression atlas of the domestic pigInvestigation of genes important in neurodevelopment disorders in adult human brain.On the spot: very local chromosomal rearrangements.Molars and incisors: show your microarray IDs.A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages.Disorders caused by chromosome abnormalities.Roles of SATB2 in osteogenic differentiation and bone regenerationFurther delineation of the SATB2 phenotype.Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontiaTranscriptional co-regulation of neuronal migration and laminar identity in the neocortexDiscovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population.Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Mutual regulation between Satb2 and Fezf2 promotes subcerebral projection neuron identity in the developing cerebral cortexRecurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Identification of shared risk loci and pathways for bipolar disorder and schizophreniaHaploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.Satb2 determines miRNA expression and long-term memory in the adult central nervous system.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.New microdeletion and microduplication syndromes: A comprehensive review.Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.Role of SATB2 in human pancreatic cancer: Implications in transformation and a promising biomarker.A molecular model for neurodevelopmental disorders.Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome.Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.SATB2 suppresses the progression of colorectal cancer cells via inactivation of MEK5/ERK5 signaling.
P2860
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P2860
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականին հրատարակուած գիտական յօդուած
@hyw
2009 թվականին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@ast
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en-gb
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@nl
type
label
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@ast
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en-gb
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@nl
altLabel
Small Deletions of SATB2 Cause ...... 2q33.1 Microdeletion Syndrome
@en
prefLabel
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@ast
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en-gb
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@nl
P2093
P2860
P3181
P1433
P1476
Small deletions of SATB2 cause ...... 2q33.1 microdeletion syndrome
@en
P2093
Arthur S Aylsworth
Beth A Torchia
Blake C Ballif
Cynthia Powell
Edward J Spence
Jill A Rosenfeld
Lisa G Shaffer
P2860
P3181
P356
10.1371/JOURNAL.PONE.0006568
P407
P577
2009-01-01T00:00:00Z