Epilepsy, EEG and chromosomal rearrangements [PDF]
Epilepsia OpenChromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy.
Justyna Paprocka +4 more
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The Impact of Chromosomal Rearrangements in Speciation: From Micro- to Macroevolution. [PDF]
Cold Spring Harb Perspect Biol, 2023 Chromosomal rearrangements (CRs) have been known since almost the beginning of genetics. While an important role for CRs in speciation has been suggested, evidence primarily stems from theoretical and empirical studies focusing on the microevolutionary ...
Lucek K +7 more
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Nascent evolution of recombination rate differences as a consequence of chromosomal rearrangements. [PDF]
PLoS Genet, 2023 Reshuffling of genetic variation occurs both by independent assortment of chromosomes and by homologous recombination. Such reshuffling can generate novel allele combinations and break linkage between advantageous and deleterious variants which increases
Näsvall K +5 more
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Genome Biology, 2017 Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly ...
Louise Harewood +7 more
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Recent advances in the detection technologies for balanced chromosomal rearrangements [PDF]
Frontiers in GeneticsBalanced chromosomal rearrangements (BCRs) refer to a type of chromosomal structural variations without chromosomal gains or losses. BCR carriers may experience fertility issues, including a higher risk of infertility, recurrent miscarriages, or having ...
Meng Gao +5 more
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Identification of complex and cryptic chromosomal rearrangements by optical genome mapping [PDF]
Molecular Cytogenetics, 2023 Background Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered ...
Shanshan Shi +3 more
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Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
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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Mechanisms of structural chromosomal rearrangement formation
Molecular Cytogenetics, 2022 Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability.
Bruna Burssed +3 more
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Chromosomal rearrangements as a source of new gene formation in Drosophila yakuba. [PDF]
PLoS Genetics, 2019 The origins of new genes are among the most fundamental questions in evolutionary biology. Our understanding of the ways that new genetic material appears and how that genetic material shapes population variation remains incomplete.
Nicholas B Stewart, Rebekah L Rogers
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Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements [PDF]
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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