Results 61 to 70 of about 93,321 (331)

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

Comparison of aneuploidy rate in spontaneous abortion chorionic villus between D6 and D5 thawed-frozen blastocyst transfer

BMC Pregnancy and Childbirth, 2023
Background To compare the aneuploidy rate in spontaneous abortion chorionic villus (SA-CV) after D5 and D6 thawed-frozen blastocyst transfer(TBT). Methods This retrospective cohort study recruited 522 patients with early spontaneous abortion from March ...
Weie Zhao, Panyu Chen, Xiaoping Liu, Yujie Li, Xiaoyan Liang, Jingjie Li   +5 more
doaj   +1 more source

Real‐Time Evolutionary Landscape of the Bronchial Epithelium and Corresponding Dynamic Immune Cell Alterations in Lung Squamous Cell Carcinogenesis

Advanced Science, EarlyView.
Lung squamous cell carcinoma (LUSC) is often preceded by sequential premalignant lesions with an increasing probability of malignant progression. Using single‐cell RNA sequencing, the dynamic cellular evolution from normal lung to LUSC tissues is delineated; clonal structure of premalignant and malignant epithelium is reveled; the conversion of immune ...
Baohong Luo, Yuting Luo, Sicheng Chen, Tiantian Yang, Bixia Liu, Xiting Liao, Xiaoke Zheng, Tian Tian, Jinxu Liu, Qinru Zhan, Xiaohua Situ, Zhongpeng Xie, Yanxia Wang, Zhe‐Sheng Chen, Honglei Chen, Zheng Yang, Zunfu Ke   +16 more
wiley   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

Dysregulation of gene expression in the artificial human trisomy cells of chromosome 8 associated with transformed cell phenotypes. [PDF]

PLoS ONE, 2011
A change in chromosome number, known as aneuploidy, is a common characteristic of cancer. Aneuploidy disrupts gene expression in human cancer cells and immortalized human epithelial cells, but not in normal human cells.
Hisakatsu Nawata, Genro Kashino, Keizo Tano, Kazuhiro Daino, Yoshiya Shimada, Hiroyuki Kugoh, Mitsuo Oshimura, Masami Watanabe   +7 more
doaj   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]

, 2016
Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core   +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, Marco A. Andonegui, Luis A. Herrera, Diddier Prada   +3 more
openaire   +3 more sources

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, Rafał Woźniak, Agnieszka Gach   +2 more
doaj   +1 more source