Results 11 to 20 of about 49,297 (181)
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements [PDF]
Molecular Cytogenetics, 2019 Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during ...
Franck Pellestor
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Exceptional Complex Chromosomal Rearrangements in Three Generations [PDF]
Case Reports in Genetics, 2015 We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on ...
Hannie Kartapradja +11 more
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Neoantigenic Potential of Complex Chromosomal Rearrangements in Mesothelioma [PDF]
Journal of Thoracic Oncology, 2019 Malignant pleural mesothelioma is a disease primarily associated with exposure to the carcinogen asbestos. Whereas other carcinogen-related tumors are associated with a high tumor mutation burden, mesothelioma is not. We sought to resolve this discrepancy.We used mate-pair (n = 22), RNA (n = 28), and T cell receptor sequencing along with in silico ...
Virginia Van Keulen +2 more
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Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies [PDF]
Genetics in Medicine OpenPurpose: Complex chromosomal rearrangements (CCRs) are rare structural variants involving 3 or more chromosomal breakpoints. Most de novo-reported CCRs pose challenges for diagnosis and management.
He Fang +7 more
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Complex chromosomal rearrangements induced by transposons in maize. [PDF]
Genetics, 2023 ABSTRACT Eukaryotic genomes are large and complex, and gene expression can be affected by multiple regulatory elements and their positions within the dynamic chromatin architecture. Transposable Elements (TEs) are known to play important roles in genome evolution, yet questions remain as to how TEs alter genome ...
Sharma SP, Peterson T.
europepmc +3 more sources
A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions [PDF]
Diagnostics, 2022 Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs)
Jui-Hung Yen +6 more
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Complex human chromosomal and genomic rearrangements [PDF]
Trends in Genetics, 2009 Copy number variation (CNV) is a major source of genetic variation among humans. In addition to existing as benign polymorphisms, CNVs can also convey clinical phenotypes, including genomic disorders, sporadic diseases and complex human traits. CNV results from genomic rearrangements that can represent simple deletion or duplication of a genomic ...
, James R Lupski, Claudia Mb Carvalho
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Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report [PDF]
Neoplasia: An International Journal for Oncology Research, 2016 Genomic instability is a well-known hallmark of cancer. Recent genome sequencing studies have led to the identification of novel phenomena called chromothripsis and chromoanasynthesis in which complex genomic rearrangements are thought to be derived from
Veronica Ortega +6 more
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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. [PDF]
PLoS Genetics, 2019 Complex chromosomal rearrangements (CCRs) are rearrangements involving more than two chromosomes or more than two breakpoints. Whole genome sequencing (WGS) allows for outstanding high resolution characterization on the nucleotide level in unique ...
Jesper Eisfeldt +9 more
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Frontiers in GeneticsIntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu +9 more
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