Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
Published 2015 View Full Article
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Title
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
Authors
Keywords
Chromothripsis, 9q21.13 deletion syndrome, <em class=EmphasisTypeItalic >GNAQ</em>
Journal
Molecular Cytogenetics
Volume 8, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-12-18
DOI
10.1186/s13039-015-0199-3
References
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Related references
Note: Only part of the references are listed.- Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features
- (2015) Jia-Chi Wang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2
- (2013) Lusine Nazaryan et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis
- (2013) Heng Gu et al. PLoS One
- Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
- (2013) Rita Genesio et al. Molecular Cytogenetics
- Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations
- (2012) Tobias Rausch et al. CELL
- A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
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- Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
- (2012) Colby Chiang et al. NATURE GENETICS
- Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms
- (2012) Wigard P. Kloosterman et al. Cell Reports
- Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development
- (2011) Philip J. Stephens et al. CELL
- Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†
- (2011) Wigard P. Kloosterman et al. HUMAN MOLECULAR GENETICS
- The effect of translocation-induced nuclear reorganization on gene expression
- (2010) L. Harewood et al. GENOME RESEARCH
- Kinetic Scaffolding Mediated by a Phospholipase C- and Gq Signaling Complex
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