Results 11 to 20 of about 10,428 (253)

Aneuploidy [PDF]

open access: yesCurrent Biology, 2015
The terms 'haploid' and 'diploid' that describe single (n) and double (2n) chromosome sets in cells were coined by the Polish-German botanist Eduard Strasburger and originate from the Greek terms haplóos meaning 'single' and diplóos meaning 'double'.
Orr, Bernardo   +2 more
openaire   +3 more sources

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

Aneuploidy and tumorigenesis [PDF]

open access: yesSeminars in Cell & Developmental Biology, 2011
Aneuploidy is a prominent phenotype of cancer. It refers to deviations from the normal number of chromosomes in a cell, as a result of whole-chromosome loss or gain. In most cases, aneuploidy is caused by mitotic errors due to defects in the mechanisms that have evolved to ensure faithful chromosome segregation, such as the spindle assembly checkpoint (
Xiao, Fang, Pumin, Zhang
openaire   +2 more sources

L’information et le consentement de la femme au dépistage prénatal non invasif

open access: yesCahiers Droit, Sciences & Technologies, 2022
Aneuploidy screening has evolved significantly over the last two. Non-invasive prenatal testing (NIPT) is a revolutionary tool in the screening strategy for trisomy 21 owing to its high performance.
Alexandra Benachi, Alexandre J. Vivanti
doaj   +1 more source

Screening for aneuploidies by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-13+6 gestational weeks [PDF]

open access: yesSrpski Arhiv za Celokupno Lekarstvo, 2012
Introduction. Aneuploidies are the major cause of perinatal death and early psychophysical disorders. Objective. In this study, we analyzed detection and false-positive rates of screening for aneuploidies in the first trimester by the combination of ...
Karadžov-Orlić Nataša   +15 more
doaj   +1 more source

Mechanisms of aneuploidy [PDF]

open access: yesCurrent Opinion in Cell Biology, 2011
Accurate chromosome segregation during cell division is essential for genome integrity. Errors in chromosome segregation are irreversible and lead to a state of aneuploidy where the number of chromosomes in a cell or organism is not a multiple of the haploid number of chromosomes.
openaire   +2 more sources

Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs

open access: yesBMC Medical Genomics, 2023
Background Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies and copy ...
Yanqiu Liu   +13 more
doaj   +1 more source

Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos

open access: yesGenome Medicine, 2023
Background The high incidence of aneuploidy in early human development, arising either from errors in meiosis or postzygotic mitosis, is the primary cause of pregnancy loss, miscarriage, and stillbirth following natural conception as well as in vitro ...
Rajiv C. McCoy   +5 more
doaj   +1 more source

Investigational Management for a Positive NIPT Result - Case Report [PDF]

open access: yesModern Medicine
Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries.
Elena Evelina STOICA   +3 more
doaj   +1 more source

A study of application effects of next-generation sequencing based preimplantation genetic testing for aneuploidies in advanced maternal age women

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2023
Objective: To investigate if next-generation sequencing-based preimplantation genetic testing for aneuploidies could improve pregnancy outcomes in women of advanced maternal age. Materials and methods: A retrospective analysis.
Yizhuo Yang   +6 more
doaj   +1 more source

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