Results 1 to 10 of about 186,093 (250)
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.
Antonietta Coppola +2 more
exaly +6 more sources
Sequence features contributing to chromosomal rearrangements in Neisseria gonorrhoeae. [PDF]
PLoS ONE, 2012 Through whole genome sequence alignments, breakpoints in chromosomal synteny can be identified and the sequence features associated with these determined.
Russell Spencer-Smith +3 more
doaj +3 more sources
Investigating Potential Chromosomal Rearrangements during Laboratory Culture of Neisseria gonorrhoeae [PDF]
Microorganisms, 2018 Comparisons of genome sequence data between different strains and isolates of Neisseria spp., such as Neisseria gonorrhoeae, reveal that over the evolutionary history of these organisms, large scale chromosomal rearrangements have occurred.
Russell Spencer-Smith +3 more
doaj +2 more sources
The Role of RNA in DNA Breaks, Repair and Chromosomal Rearrangements
Biomolecules, 2021 Incorrect reparation of DNA double-strand breaks (DSB) leading to chromosomal rearrangements is one of oncogenesis’s primary causes. Recently published data elucidate the key role of various types of RNA in DSB formation, recognition and repair.
Denis Demin
exaly +3 more sources
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
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
doaj +2 more sources
Recent advances in the detection technologies for balanced chromosomal rearrangements
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
doaj +2 more sources
Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements
Фундаментальная и клиническая медицина, 2022 Mutations represent a natural mechanism for adaptation of species to changing environmental conditions. Chromosomal rearrangements play a pivotal role in the evolution, as evidenced by the comparison of human and non-human primate karyotypes, and have ...
А. N. Volkov, O. I. Rytenkova
doaj +2 more sources
Frontiers in GeneticsIntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Liqing Jiang
exaly +3 more sources
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
doaj +2 more sources
On the spot: very local chromosomal rearrangements [PDF]
F1000 Biology Reports, 2012 Over the last decade, the detection of chromosomal abnormalities has shifted from conventional karyotyping under a light microscope to molecular detection using microarrays. The latter technology identified copy number variation as a major source of variation in the human genome; moreover, copy number variants were found responsible for 10-20% of cases
Helsmoortel, Céline +2 more
openaire +4 more sources