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Chromoanasynthesis is a distinct entity within the complex rearrangement phenomena grouped under the name chromoanagenesis. The formation of chromoanasynthesis is linked to defective or interrupted DNA replication, due to various replicative stress factors.
Frédéric Morel, Vincent Gatinois
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AbstractChromothripsis (chromosome shattering) has been described as complex rearrangements affecting single chromosome(s) in one catastrophic event. The chromosomes would be “shattered” and “stitched together” during this event. This phenomenon is proposed to constitute the basis for complex chromosomal rearrangements seen in 2‐3% of all cancers and ...
Sabine Mai, Christiaan Righolt
exaly +4 more sources
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Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient
European Journal of Medical Genetics, 2014Structural alterations in chromosomes are a frequent cause of cancers and congenital diseases. Recently, the phenomenon of chromosome crisis, consisting of a set of tens to hundreds of clustered genomic rearrangements, localized in one or a few chromosomes, was described in cancer cells under the term chromothripsis. Better knowledge and recognition of
Julie Plaisancié, Kleinfinger Pascale
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Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing
Methods in Molecular BiologyChromoanagenesis encompasses catastrophic genomic rearrangements, with chromoanasynthesis referring to unbalanced germline events involving one or multiple chromosomes, distinct from the mostly balanced rearrangements seen in cancer-associated chromothripsis and chromoplexy. Initially identified via chromosomal microarray analysis (CMA) and custom high-
Kwong Wai Choy +2 more
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A Rare Form Of Constitutional Chromoanasynthesis: Ring Chromosome 18
Durak Aras, Beyhan +6 more
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Cytogenetic and Genome Research, 2016
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements.
Erina Suzuki +9 more
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Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements.
Erina Suzuki +9 more
openaire +2 more sources
eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male
Genetics in Medicine, 2022Tam Sneddon +4 more
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Detection of complex genomic signatures associated with risk in plasma cell disorders
Cancer Genetics, 2017Rodney Scott +2 more
exaly

