Results 71 to 80 of about 125,822 (294)

Application value of NIPT for uncommon fetal chromosomal abnormalities

Molecular Cytogenetics, 2020
Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan, Mingfang Shi   +4 more
doaj   +1 more source

Immunohistochemistry analysis and chromosomal translocation abnormalities.

, 2018
Immunohistochemistry analysis and chromosomal translocation abnormalities.
Takuto Miyagishima (5088950), Hiroaki Miyoshi (2818363), Junichi Kiyasu (5088947), Masao Seto (73894), Tomohiko Kamimura (287232), Takanori Teshima (2816914), Joji Shimono (5088944), Koji Nagafuji (410643), Koichi Ohshima (230585), Tetsuya Eto (3571922)   +9 more
core   +1 more source

Who should be screened for chromosomal abnormalities before ICSI treatment? [PDF]

, 2010
Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe oligozoospermic men, because they are assumed to have the highest risk of abnormalities.
van Ravenswaaij-Arts, C. M. A., Land, J. A., Dul, E. C., J. A. Land, E. C. Dul, J. van Echten-Arends, van Ravenswaaij-Arts, C.M.A., Dul, E.C., Land, J.A., Groen, H., Groen, H.; id_orcid, van Echten-Arends, J., C. M. A. van Ravenswaaij-Arts, H. Groen   +13 more
core   +1 more source

Population-Based Study of Epilepsy in Infants

Pediatric Neurology Briefs, 2013
Investigators at the Paediatric Neurology Department, Great Ormond Street Hospital for Children, London, and other centers in the UK and USA carried out a population-based study of children, 1-24 months of age, with new-onset epilepsy, ascertained over ...
J Gordon Millichap
doaj   +1 more source

screening for fetal chromosomal abnormalities

, 2020
Objective: This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood-sampling for cell-free DNA (cfDNA) screening.
Fabricio da Silva Costa, Jayshree Ramkrishna, Menezes, M, da Silva Costa, F, Shavi Fernando, Brown, I, Imogen Brown, Ramkrishna, J, Daniel L. Rolnik, Melody Menezes, Meagher, S, Fernando, S, Simon Meagher, Rolnik, DL   +13 more
core   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Paternal Circadian Disruption Impairs Offspring Cognition via Sperm microRNAs

Advanced Science, EarlyView.
Paternal circadian disruption remodels the sperm small RNA payload, elevating miR‐92a‐3p/miR‐25‐3p levels and perturbing early embryonic gene regulatory programs. Microinjection experiments and single‐embryo transcriptomics reveal sex‐specific developmental vulnerabilities, ultimately impairing offspring hippocampal synaptic plasticity and cognition ...
Kexin Zou, Sisi Luo, Binliang Tang, Zhiqiang Liu, Yuchuan Zhou, Yicong Meng, Zhengmu Wu, Zheng Sun, Weihui Shi, Jianzhong Sheng, Chuanjin Yu, Zhenhua Li, Siyi Wei, Mo Zhang, Yujie Luo, Jing Yan, Xueyun Qin, Jiahang Mo, Chengliang Zhou, Jinsong Li, Hefeng Huang, Yifu Ding, Guolian Ding   +22 more
wiley   +1 more source

Chromosomal abnormalities associated with mental retardation in female subjects [PDF]

, 2010
Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR). However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable ...
Sinha, Swagata, Shaw, Jyoti, Kanchan, Mukhopadhyay, Dutta, Samikshan   +3 more
core   +1 more source

Zinc Exposure Causes Disulfidptosis to Induce Miscarriage by Up‐Regulating GATA1/METTL1/SLC7A11 Axis

Advanced Science, EarlyView.
Zn exposure up‐regulates GATA1, promoting GATA1‐mediated METTL1 and SLC7A11 transcription. It also enhances METTL1‐mediated m7G modification on SLC7A11 mRNA, increasing SLC7A11 mRNA stability. Ultimately, Zn exposure up‐regulates SLC7A11 at both transcriptional and post‐transcriptional levels, causing disulfidptosis. Knockdown of murine Slc7a11, Gata1,
Wenxin Huang, Yi Sun, Yanxin Wang, Haijun Yan, Xiaoping Yue, Weidong Wu, Xueyu Chen, Jinfang Zhang, Yanbing Lin, Qiong Lei, Nan Ji, Shuaishuai Xing, Liqin Zeng, Qingzheng Kang, Depeng Zhao, Geng Guo, Huidong Zhang   +16 more
wiley   +1 more source

Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders

Journal of International Medical Research, 2019
Objective High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities including aneuploidy.
Rui Zhang, Xiangbin Chen, Dong Wang, Xuan Chen, Chao Wang, Yuhong Zhang, Mengnan Xu, Jingcui Yu   +7 more
doaj   +1 more source