Results 21 to 30 of about 49,297 (181)

Massive Amplification at an Unselected Locus Accompanies Complex Chromosomal Rearrangements in Yeast [PDF]

G3: Genes, Genomes, Genetics, 2016
Gene amplification has been observed in different organisms in response to environmental constraints, such as limited nutrients or exposure to a variety of toxic compounds, conferring them with specific phenotypic adaptations via increased expression ...
Agnès Thierry, Varun Khanna, Bernard Dujon   +2 more
doaj   +2 more sources

Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7 [PDF]

Genes, 2023
Donatella Conconi, Angela Bentivegna, Gaia Roversi   +2 more
exaly   +2 more sources

Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors [PDF]

Frontiers in Genetics
Liu Fenghua
exaly   +2 more sources

Identification of a familial complex chromosomal rearrangement by optical genome mapping

Molecular Cytogenetics, 2022
Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion.
Yang Yang, Wang Hao
doaj   +1 more source

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

Molecular Cytogenetics, 2022
Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth.
Yan Luo, Hezhen Lu, Yanshang Zhang, Zhiqiang Cui, Pingping Zhang, Yali Li   +5 more
doaj   +1 more source

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Molecular Cytogenetics, 2022
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions ...
Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson   +8 more
doaj   +1 more source

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, Malú Zamariolli, Fernanda Teixeira Bellucco, Maria Isabel Melaragno   +3 more
doaj   +1 more source

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

Genome Medicine, 2020
Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints.
Satomi Mitsuhashi, Sachiko Ohori, Kazutaka Katoh, Martin C. Frith, Naomichi Matsumoto   +4 more
doaj   +1 more source

Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing

Scientific Reports, 2021
Genomic rearrangements cause congenital disorders, cancer, and complex diseases in human. Yet, they are still understudied in rare diseases because their detection is challenging, despite the advent of whole genome sequencing (WGS) technologies.
Tatiana Maroilley, Xiao Li, Matthew Oldach, Francesca Jean, Susan J. Stasiuk, Maja Tarailo-Graovac   +5 more
doaj   +1 more source

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, Peizhi Huang, Ruiling Yan, Ruiman Li   +3 more
doaj   +1 more source