SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations
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Title
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 2, Pages 327-337
Publisher
Wiley
Online
2016-10-24
DOI
10.1002/ajmg.a.38022
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Related references
Note: Only part of the references are listed.- SATB2-associated syndrome presenting with Rett-like phenotypes
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- (2016) Hojka Gregoric Kumperscak et al. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
- Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing
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- Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
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- First Korean Case ofSATB2-Associated 2q32-q33 Microdeletion Syndrome
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- Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome
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- (2014) J. Brocato et al. CARCINOGENESIS
- Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia
- (2014) Ann-Sophie Kaiser et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Lentiviral-mediated expression of SATB2 promotes osteogenic differentiation of bone marrow stromal cells in vitro and in vivo
- (2014) Yiming Gong et al. EUROPEAN JOURNAL OF ORAL SCIENCES
- The clinical significance of small copy number variants in neurodevelopmental disorders
- (2014) Reza Asadollahi et al. JOURNAL OF MEDICAL GENETICS
- SATB2 enhances migration and invasion in osteosarcoma by regulating genes involved in cytoskeletal organization
- (2014) B K A Seong et al. ONCOGENE
- Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
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- Further delineation of the SATB2 phenotype
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- Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene
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- Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
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- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
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- (2011) Jennifer L. Fish et al. EVOLUTION & DEVELOPMENT
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- (2009) Fabio Savarese et al. GENES & DEVELOPMENT
- Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
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- Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort
- (2008) Julia Baptista et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2008) Andrea B. Gyorgy et al. EUROPEAN JOURNAL OF NEUROSCIENCE
- Satb2 Is a Postmitotic Determinant for Upper-Layer Neuron Specification in the Neocortex
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- Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex
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