Results 51 to 60 of about 268,628 (304)

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Basic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari   +8 more
doaj  

Defending biomedical authority and regulating the womb as social space. Prenatal testing in the Polish press [PDF]

, 2010
The issue of abortion has been the topic of heated and frequent debate in post-Communist Poland. Parliamentary debate in 1998—9 centred around a legislative attempt to restrict prenatal testing, specifically amniocentesis, in order to further reduce the ...
Kramer, Anne-Marie Caroline
core   +2 more sources

Real‐world trends in prenatal antirheumatic drug utilization in Ontario, Canada: A cross‐sectional time‐series analysis

Arthritis Care &Research, Accepted Article.
Objectives This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J.T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

The Safety Appliance Act and the FELA: A Plea for Clarification [PDF]

, 1953
The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a ...
Louisell, David W., Anderson, Kenneth M.
core   +1 more source

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

RENAL‐CHIP: Rejection Evaluation via Non‐Invasive Analysis of Circulating Podocytes With Herringbone‐Chip Isolation Platform

Advanced Science, EarlyView.
RENAL‐CHIP converts 1 mL of peripheral blood into a biopsy‐equivalent readout of renal‐allograft fate. By magnetic capture and release of donor‐derived circulating podocytes through a herringbone microfluidic chip, 84% capture, 96% release and single‐cell RNA evidence of rejection‐specific immunity are achieved.
Juan Song, Yilong Liu, Zeyuan Zheng, Ming Zhu, Yuning Zou, Pei Liu, Yue Zheng, Xiyuan Yu, Jianzhong Zheng, Chen Shao, Huimin Zhang, Chaoyong Yang   +11 more
wiley   +1 more source

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BMC Medical Genomics, 2021
Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown.
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang   +6 more
doaj   +1 more source

Hierarchical Channeled Graphitized Nanoarchitecture as a Diagnostic Platform for Maternal Fever Warning

Advanced Science, EarlyView.
This study presents a hierarchically channeled graphitized nanoarchitecture (HPGC‐Z67) as a novel nano‐diagnostic platform. It enables sensitive and efficient N‐glycan extraction from plasma, significantly reducing processing time and cost. The platform identifies pivotal N‐glycans to accurately differentiate between infectious and non‐infectious ...
Yiwen Lin, Ning Li, Heyuhan Zhang, Xufang Hu, Zhiqiang Liu, Chunhui Deng   +5 more
wiley   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Phosphatidic Acid‐TRIM59‐Olig2 Signaling Couples Metabolic Dysfunction to Myelination Failure in PWMI

Advanced Science, EarlyView.
PA accumulates after hypoxic‐ischemic injury and stabilizes the E3 ligase TRIM59 in OPCs. Stabilized TRIM59 enhances ubiquitination and degradation of Olig2, blocking differentiation and causing hypomyelination in PWMI. Modulating PA synthesis restores Olig2 levels, improves myelination, and ameliorates behavioral deficits, defining a metabolically ...
Xinyu Li, Yanan Liu, Meng Zhang, Yiwei Liu, Meiting Liu, Kaishen Zhu, Zhian Liu, Chao Ren, Ruiqin Yao   +8 more
wiley   +1 more source