The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsThe language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiersPhenotypic subregions within the split-hand/foot malformation 1 locus.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndromeChromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangementsGenomic instability: Crossing pathways at the origin of structural and numerical chromosome changes.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Chromothripsis after Stumbling through DNA Replication.Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.Of Simple and Complex Genome Rearrangements, Chromothripsis, Chromoanasynthesis, and Chromosome Chaos.A germline chromothripsis event stably segregating in 11 individuals through three generations.Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
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The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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The strength of combined cytog ...... rearrangement involving FOXP2.
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The strength of combined cytog ...... rearrangement involving FOXP2.
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The strength of combined cytog ...... rearrangement involving FOXP2.
@en
The strength of combined cytog ...... rearrangement involving FOXP2.
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The strength of combined cytog ...... rearrangement involving FOXP2.
@en
The strength of combined cytog ...... rearrangement involving FOXP2.
@nl
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P2860
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The strength of combined cytog ...... rearrangement involving FOXP2.
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Anastasios D Papanastasiou
Claus Hansen
Eunice G Stefanou
Freddie H Sharkey
Lusine Nazaryan
Maria Syrrou
Nadezda Kosyakova
Theodora Mantziou
Thomas Liehr
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P2888
P304
P356
10.1038/EJHG.2013.147
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2013-07-17T00:00:00Z