Results 1 to 10 of about 42,259 (157)

Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China [PDF]

Journal of Medical Biochemistry, 2022
Background: Non-invasive prenatal screening (NIPS) is a highly sensitive and specific screening test to detect fetal chromosomal abnormalities. The primary objective of this study was to evaluate the NIPS as an effective method for prenatal detection of ...
Li XiaoZe, Wang LiHong, Yao ZeRong, Ruan FangYing, Hu ZhiPeng, Song WenXia   +5 more
doaj   +1 more source

Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH

Diagnostics, 2021
Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated.
Marcel Kucharík, Jaroslav Budiš, Michaela Hýblová, Gabriel Minárik, Tomáš Szemes   +4 more
doaj   +1 more source

Trisomy 21 alters DNA methylation in parent-of-origin-dependent and independent manners [PDF]

, 2016
The supernumerary chromosome 21 in Down syndrome differentially affects the methylation statuses at CpG dinucleotide sites and creates genome-wide transcriptional dysregulation of parental alleles, ultimately causing diverse pathologies.
Alves da Silva, Antônio Francisco, Biselli-Périco, Joice Matos, Chuva de Sousa Lopes, Susana Marina, Fernandes, Maria Gomes, Francisco Junior, Ronaldo da Silva, Lopes Rios, Álvaro Fabricio, Machado, Douglas Terra, Machado, Filipe Brum, Medina-Acosta, Enrique, Mozer Rodrigues, Pedro Thyago, Pavarino, Érika Cristina, Santos-Rebouças, Cíntia Barros, Zampieri, Bruna Lancia   +12 more
core   +10 more sources

Clinical Efficiency of Non-invasive Prenatal Screening for Common Trisomies in Low-Risk and Twin Pregnancies

Frontiers in Genetics, 2021
To evaluate the clinical efficiency of non-invasive prenatal screening (NIPS) for fetal aneuploidies in low-risk and twin pregnancies, patients who received NIPS in a tertiary university hospital were enrolled, and their clinical data, NIPS results and ...
Yanfei Xu, Pengzhen Jin, Yu Lei, Yeqing Qian, Yeqing Qian, Yuqing Xu, Miaomiao Wang, Jinglei Jin, Yixuan Yin, Minyue Dong, Minyue Dong, Minyue Dong   +11 more
doaj   +1 more source

Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

Diagnostics, 2020
Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA ...
Michaela Hyblova, Maria Harsanyova, Diana Nikulenkov-Grochova, Jitka Kadlecova, Marcel Kucharik, Jaroslav Budis, Gabriel Minarik   +6 more
doaj   +1 more source

Identification and Genome-Wide Gene Expression Perturbation of a Trisomy in Chinese Kale (Brassica oleracea var. alboglabra)

Plants, 2023
Trisomy harbouring an extra copy of the chromosome generally causes a variety of physical and intellectual disabilities in mammals but is an extremely rare and important genetic stock in plants.
Qun Feng, Junxing Yu, Jie Yu, Mingyang Hu, Lei Gu, Hongcheng Wang, Xuye Du, Bin Zhu, Mengxian Cai   +8 more
doaj   +1 more source

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report [PDF]

Neonatal Medicine, 2022
Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or ...
Woo Kyung Kim, Na Mi Lee, In Seok Lim, Soo Ahn Chae, Sin Weon Yun, Dae Yong Yi, Su Yeong Kim   +6 more
doaj   +1 more source

Tunicamycin Potentiates Antifungal Drug Tolerance via Aneuploidy in Candida albicans

mBio, 2021
How cells exposed to one stress are later able to better survive other types of stress is not well understood. In eukaryotic organisms, physiological and pathological stresses can disturb endoplasmic reticulum (ER) function, resulting in “ER stress ...
Feng Yang, Vladimir Gritsenko, Yaniv Slor Futterman, Lu Gao, Cheng Zhen, Hui Lu, Yuan-ying Jiang, Judith Berman   +7 more
doaj   +1 more source

Result of Prospective Validation of the Trisomy Test^® for the Detection of Chromosomal Trisomies

Diagnostics, 2019
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing.
Martina Sekelska, Anita Izsakova, Katarina Kubosova, Petra Tilandyova, Erika Csekes, Zaneta Kuchova, Michaela Hyblova, Maria Harsanyova, Marcel Kucharik, Jaroslav Budis, Tomas Szemes, Gabriel Minarik   +11 more
doaj   +1 more source

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

, 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, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources