Results 21 to 30 of about 98,141 (333)

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

open access: yes, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core   +2 more sources

Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning

open access: yesNeurobiology of Disease, 2009
Recently it has been suggested that the human brain contains aneuploid cells; however the nature and magnitude of neural aneuploidy in health and disease remain obscure. Here, we have monitored aneuploidy in the cerebral cortex of the normal, Alzheimer's
Ivan Y. Iourov   +3 more
doaj   +1 more source

Aneuploidy facilitates dysplastic and tumorigenic phenotypes in the Drosophila gut

open access: yesBiology Open, 2021
Aneuploidy has been strongly linked to cancer development, and published evidence has suggested that aneuploidy can have an oncogenic or a tumor suppressor role depending on the tissue context.
Rita Brás   +3 more
doaj   +1 more source

A systematic approach to cancer: evolution beyond selection. [PDF]

open access: yes, 2017
Cancer is typically scrutinized as a pathological process characterized by chromosomal aberrations and clonal expansion subject to stochastic Darwinian selection within adaptive cellular ecosystems.
Miller, William B, Torday, John S
core   +1 more source

Thoughts on Aneuploidy [PDF]

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 2010
Aneuploidy refers to karyotypic abnormalities characterized by gain or loss of individual chromosomes. This condition is associated with disease and death in all organisms in which it has been studied. We have characterized the effects of aneuploidy on yeast and primary mouse cells and found it to be detrimental at the cellular level.
Torres Mejia, Elen Raquel Sarabasti   +3 more
openaire   +4 more sources

Selfish centromeres and the wastefulness of human reproduction.

open access: yesPLoS Biology, 2022
Many human embryos die in utero owing to an excess or deficit of chromosomes, a phenomenon known as aneuploidy; this is largely a consequence of nondisjunction during maternal meiosis I.
Laurence D Hurst
doaj   +1 more source

Chromosomal Instability, Aneuploidy, and Gene Mutations in Human Sporadic Colorectal Adenomas

open access: yesCellular Oncology, 2004
Whether in vivo specific gene mutations lead to chromosomal instability (CIN) and aneuploidy or viceversa is so far not proven. We hypothesized that aneuploidy among human sporadic colorectal adenomas and KRAS2 and APC mutations were not independent ...
Walter Giaretti   +3 more
doaj   +1 more source

Molecular signatures of aneuploidy-driven adaptive evolution

open access: yesNature Communications, 2020
Aneuploidy (abnormal chromosome number) can enable rapid adaptation to stress conditions, but it also entails fitness costs from gene imbalance. Here, the authors experimentally evolve yeast while forcing maintenance of aneuploidy to identify the ...
Alaattin Kaya   +8 more
doaj   +1 more source

Aneuploidy and confined chromosomal mosaicism in the developing human brain. [PDF]

open access: yesPLoS ONE, 2007
BACKGROUND: Understanding the mechanisms underlying generation of neuronal variability and complexity remains the central challenge for neuroscience.
Yuri B Yurov   +11 more
doaj   +1 more source

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

open access: yes, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias   +7 more
core   +2 more sources

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