Results 41 to 50 of about 372,109 (217)

Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia [PDF]

, 2004
INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders.
Alsulaiman, Ayman
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Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis

Scientific Reports, 2023
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang, Xiao Yang, Linlin Li, Xin Lv, Ruixue Wang, Hongguo Zhang, Ruizhi Liu   +6 more
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Identifying heart rate characteristics of sleep states of preterm infants using video analysis

Scientific Reports
Objective is to identify changes in heart rate (HR) corresponding to different behavioral state of preterm infants determined through video analysis. Video electroencephalogram (EEG) and electrocardiogram (ECG) data were collected from infants.
R. B. Govindan, Venkata Chaitanya Chirumamilla, Sarah B. Mulkey, Robin Baker, Adre du Plessis   +4 more
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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
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A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
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Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2022
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing   +8 more
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Laughter as medical providers' resource : negotiating informed choice in prenatal genetic counseling [PDF]

, 2011
This article aims to challenge the perception that in medical encounters laughter is an interactional resource primarily employed by patients. Drawing on 34 video-recorded prenatal genetic counseling (PGC) sessions collected in a Hong Kong hospital, and ...
Schnurr, S, Zayts, O, Olga Zayts, Zayts, Olga, Schnurr, Stephanie, Stephanie Schnurr   +5 more
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Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

, 2014
Objective The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Yi Zhou, Pan, Xiaoyu, Tze Kin Lau, Shi, Shuqiong, Zheng, Jing, Shi, Xiaomei, Weiwei Xie, Qun Fang, Wei Wang, Fuman Jiang, Yuan Wei, Fang Chen, Hui Jiang, Shengpei Chen, Li, Xuchao, Jiang, Fuman, Zhang, Chunlei, Su, Fengxia, Liu, Qiufang, Lau, Tze Kin, Lei, Dongzhu, Wu, Qichang, Xuchao Li, Gao, Ya, Xu, Chenming, Guo, Xiaoling, Yangyu Zhao, Shuqiong Shi, Wang, Wei, Huijuan Ge, Xie, Weiwei, Xiaoyu Pan, Xiaoling Guo, Qichang Wu, Wei, Yuan, Lifu Liu, Ge, Huijuan, Zhang, Hongyun, Fang, Qun, Fengxia Su, Min Chen, Xiaomei Shi, Jiang, Hui, Jing Zheng, Zhao, Yangyu, Qiufang Liu, Chunlei Zhang, Chen, Fang, Ya Gao, Chen, Min, Liu, Lifu, Zhou, Yi, Chenming Xu, Xuan Huang, Dongzhu Lei, Huang, Xuan, Chen, Shengpei, Hongyun Zhang   +57 more
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The impact of the emergence of COVID‐19 on women's prenatal genetic testing decisions

, 2021
Objective We conducted a study to examine the impact of COVID on patients' access and utilization of prenatal genetic screens and diagnostic tests at the onset of the COVID‐19 pandemic in the United States.
Ranzini, Angela, Angela Ranzini, Uma Perni, Coleridge, Marissa, Christina Collart, Richard Frankel, Susannah S. Rose, Craighead, Caitlin, Pemi, Uma, Madelyn Pierce, Ruth M. Farrell, Pierce, Madelyn, Tucker Edmonds, Brownsyne, Edward K. Chien, Chien, Edward K., Frankel, Richard, Marissa Coleridge, Caitlin Craighead, Collart, Christina, Brownsyne Tucker Edmonds, Farrell, Ruth M.   +20 more
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Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

Genome Medicine, 2022
Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES
Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li, Fatao Li, Lina Zhang, Cuixing Yi, Yingsi Li, Yan Lu, Hang Zhou, Ken Cheng, Jian Li, Lina Xiang, Jing Zhang, Sha Tang, Ping Fang, Dongzhi Li, Can Liao   +29 more
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