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  1. Aneuploidy

    Reference work entry 2024
  2. Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress

    Aneuploidy, having an aberrant genome, is gaining increasing attention in neurodegenerative diseases. It gives rise to proteotoxic stress as well as...

    Anowarul Islam, Zeeshan Shaukat, ... Stephen L. Gregory in Journal of Molecular Neuroscience
    Article Open access 02 May 2024
  3. Aneuploidy during development in facultative parthenogenetic Drosophila

    From concatenated chromosomes to polyploidization, large-scale genome changes are known to occur in parthenogenetic animals. Here, we report mosaic...

    A. L. Sperling, D. M. Glover in Heredity
    Article Open access 28 November 2023
  4. Tumor aneuploidy predicts survival following immunotherapy across multiple cancers

    Tumor mutational burden (TMB) has emerged as a promising biomarker of immunotherapy response across multiple cancer types; however, clinical outcomes...

    Liam F. Spurr, Ralph R. Weichselbaum, Sean P. Pitroda in Nature Genetics
    Article 28 November 2022
  5. Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses

    Background

    Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big...

    Shengfang Qin, Xueyan Wang, ... Yan Yin in Molecular Cytogenetics
    Article Open access 06 December 2023
  6. Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns

    Whole chromosome and arm-level copy number alterations occur at high frequencies in tumors, but their selective advantages, if any, are poorly...

    Emma V. Watson, Jake June-Koo Lee, ... Stephen J. Elledge in Nature Genetics
    Article Open access 22 February 2024
  7. Growth hormone reduces aneuploidy and improves oocytes quality by JAK2-MAPK3/1 pathway in aged mice

    Background

    The global delay in women’s reproductive age has raised concerns about age-related infertility. The decline in oocyte quality is a limiting...

    Yun-Yao Luo, ** Zeng, ... **g-Yu Li in Journal of Translational Medicine
    Article Open access 29 June 2023
  8. FISHing for Chromosome Instability and Aneuploidy in the Alzheimer’s Disease Brain

    Fluorescence in situ hybridization (FISH) is the method of choice for visualizing chromosomal DNA in post-mitotic cells. The availability of...
    Yuri B. Yurov, Svetlana G. Vorsanova, Ivan Y. Iourov in Alzheimer’s Disease
    Protocol 2023
  9. Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing

    Infertility is a major reproductive health issue that affects about 12% of women of reproductive age in the United States. Aneuploidy in eggs...

    Siqi Sun, Maximilian Miller, ... **chuan **ng in Human Genetics
    Article 26 March 2022
  10. Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile

    Background

    Chromosomal aneuploidy is the most common birth defect. However, the developmental mechanism and gene expression profile of fetuses with...

    Min Zhang, Kun Li, ... Xuexi Yang in Journal of Translational Medicine
    Article Open access 18 November 2022
  11. Preimplantation genetic testing for aneuploidy: challenges in clinical practice

    Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers...

    Hui Yang, Andrew Thomas DeWan, ... Sten H. Vermund in Human Genomics
    Article Open access 20 December 2022
  12. Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate

    Background

    Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an...

    Christina Mendiola, Veronica Ortega, ... Gopalrao Velagaleti in Molecular Cytogenetics
    Article Open access 24 January 2022
  13. Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study

    Background

    Preimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but...

    Shujuan Ma, **gnan Liao, ... Ge Lin in Journal of Translational Medicine
    Article Open access 02 November 2023
  14. A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss

    Objective

    We and others have previously demonstrated that the size-selection enrichment method could remarkably improve fetal fraction (FF) in the...

    Longwei Qiao, Bin Zhang, ... Ting Wang in Journal of Translational Medicine
    Article Open access 02 August 2022
  15. Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy

    Changuk Chung, **aoxu Yang, Joseph G. Gleeson in Nature Genetics
    Article 23 October 2023
  16. Haploty**-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

    Chromosome instability is inherent to human IVF embryos, but the full spectrum and developmental fate of chromosome anomalies remain uncharacterized....

    Olga TÅ¡uiko, Michiel Vanneste, ... Eftychia Dimitriadou in npj Genomic Medicine
    Article Open access 07 October 2021
  17. Identification of aneuploidy in dogs screened by a SNP microarray

    Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a...

    Lisa G. Shaffer, Bradley Hopp, ... Blake C. Ballif in Human Genetics
    Article 21 July 2021
  18. Chromosome aneuploidy analysis in embryos derived from in vivo and in vitro matured human oocytes

    Background

    In vitro oocyte maturation (IVM) is being increasingly approached in assisted reproductive technology (ART). This study aimed to evaluate...

    Jianhua Li, **g Chen, ... Ye Xu in Journal of Translational Medicine
    Article Open access 09 October 2021
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