Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain
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Title
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain
Authors
Keywords
Sequence motif analysis, Comparative genomics, DNA sequence analysis, Multiple alignment calculation, Sequence alignment, Microhomology-mediated end joining, Non-homologous end joining, DNA replication
Journal
PLoS Genetics
Volume 9, Issue 3, Pages e1003358
Publisher
Public Library of Science (PLoS)
Online
2013-03-15
DOI
10.1371/journal.pgen.1003358
References
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Note: Only part of the references are listed.- Mechanisms for recurrent and complex human genomic rearrangements
- (2012) Pengfei Liu et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
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- 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
- (2011) Sarah Vergult et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia
- (2011) Philip M Boone et al. GENETICS IN MEDICINE
- High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
- (2011) Blake C. Ballif et al. HUMAN GENETICS
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- (2010) Femke Hannes et al. HUMAN MUTATION
- Accurate and objective copy number profiling using real-time quantitative PCR
- (2010) Barbara D’haene et al. METHODS
- Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
- (2010) Donald F Conrad et al. NATURE GENETICS
- Genomic disorders: A window into human gene and genome evolution
- (2010) C. M. B. Carvalho et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A time-invariant principle of genome evolution
- (2010) S. De et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Copy Number Variation in Human Health, Disease, and Evolution
- (2009) Feng Zhang et al. Annual Review of Genomics and Human Genetics
- Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
- (2009) Karen Buysse et al. European Journal of Medical Genetics
- Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome
- (2009) Svetlana A. Yatsenko et al. HUMAN MOLECULAR GENETICS
- Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
- (2009) Lisenka E.L.M. Vissers et al. HUMAN MOLECULAR GENETICS
- Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
- (2009) S C Sreenath Nagamani et al. JOURNAL OF MEDICAL GENETICS
- Genomic disorders ten years on
- (2009) James R Lupski Genome Medicine
- Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
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- A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation
- (2008) B. Chanda et al. HUMAN MOLECULAR GENETICS
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Systematic assessment of copy number variant detection via genome-wide SNP genotyping
- (2008) Gregory M Cooper et al. NATURE GENETICS
- Integrated detection and population-genetic analysis of SNPs and copy number variation
- (2008) Steven A McCarroll et al. NATURE GENETICS
- Replication stalling at unstable inverted repeats: Interplay between DNA hairpins and fork stabilizing proteins
- (2008) I. Voineagu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- L1 recombination-associated deletions generate human genomic variation
- (2008) K. Han et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Double-strand breaks associated with repetitive DNA can reshape the genome
- (2008) J. L. Argueso et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings
- (2008) Mitch McVey et al. TRENDS IN GENETICS
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