Results 71 to 80 of about 50,865 (308)
Increased frequency of aneuploidy in long-lived spermatozoa. [PDF]
PLoS ONE, 2014 Aneuploidy commonly causes spontaneous abortions, stillbirths, and aneuploid births in humans. Notably, the majority of sex chromosome aneuploidies in live births have a paternal origin.
Young-Ah You +6 more
doaj +1 more source
World Journal of Stem Cells, 2016 Stem cells hold enormous promise for regenerative medicine as well as for engineering of model systems to study diseases and develop new drugs. The discovery of protocols that allow for generating induced pluripotent stem cells (IPSCs) from somatic cells has brought this promise steps closer to reality.
Jorge Garcia-Martinez +4 more
openaire +3 more sources
The Epigenetic Origin of Aneuploidy [PDF]
Current Genomics, 2008 Theodore Boveri, eminent German pathologist, observed aneuploidy in cancer cells more than a century ago and suggested that cancer cells derived from a single progenitor cell that acquires the potential for uncontrolled continuous proliferation. Currently, it is well known that aneuploidy is observed in virtually all cancers.
Alfonso Dueñas-González +3 more
openaire +3 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source
Complex interplay between p53 and chromosome stability
Molecular & Cellular Oncology, 2021 TP53-dependent cell cycle arrest has been proposed to limit the proliferation of aneuploid cells. We investigated the cellular response to aneuploidy in cell lines and organoid cultures and found that TP53 (also known as p53) is not activated following ...
Akshay Narkar, Blake A. Johnson, Rong Li
doaj +1 more source
Clinical Validation of Novel Chip-Based Digital PCR Platform for Fetal Aneuploidies Screening
Diagnostics, 2021 Fetal aneuploidy is routinely diagnosed by karyotyping. The development of techniques for rapid aneuploidy detection based on the amplification reaction allows cheaper and rapid diagnosis. However, the currently available solutions have limitations.
Anna Nykel +2 more
doaj +1 more source
Transcriptional consequences of aneuploidy [PDF]
Proceedings of the National Academy of Sciences, 2012 Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been implicated in tumorigenesis. However, the causes of aneuploidy-induced phenotypes and the consequences of aneuploidy on cell physiology remain poorly understood.
Sheltzer, Jason Meyer +3 more
openaire +4 more sources
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source
Detection of Aneuploidy with Digital PCR [PDF]
arXiv, 2007 The widespread use of genetic testing in high risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down's Syndrome), the most common human aneuploidy.
arxiv
Histologic Dataset of Normal and Atypical Mitotic Figures on Human Breast Cancer (AMi-Br) [PDF]
In: Palm, C., et al. Bildverarbeitung f\"ur die Medizin 2025. BVM
2025. Informatik aktuell. Springer Vieweg, WiesbadenAssessment of the density of mitotic figures (MFs) in histologic tumor sections is an important prognostic marker for many tumor types, including breast cancer. Recently, it has been reported in multiple works that the quantity of MFs with an atypical morphology (atypical MFs, AMFs) might be an independent prognostic criterion for breast cancer.
arxiv +1 more source