Results 1 to 10 of about 127,958 (209)

Cell-free DNA copy number variations predict efficacy of immune checkpoint inhibitor-based therapy in hepatobiliary cancers [PDF]

Journal for ImmunoTherapy of Cancer, 2021
Background This study was designed to screen potential biomarkers in plasma cell-free DNA (cfDNA) for predicting the clinical outcome of immune checkpoint inhibitor (ICI)-based therapy in advanced hepatobiliary cancers.Methods Three cohorts including 187
Ying Hu, Jie Pan, Xu Yang, Jiao Zhang, Ke Hu, Xi Wang, Yilei Mao, Henghui Zhang, Xiaobo Yang, Haitao Zhao, Xinting Sang, Keyan Yang, Dongxu Wang, Jianzhen Lin, Junyu Long, Fucun Xie, Jinzhu Mao, Jin Bian, Mei Guan, Li Huo   +19 more
doaj   +2 more sources

Cell-free DNA test for pathogenic copy number variations: A retrospective study

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities.
Hong-Lei Duan, Jie Li, Wan-Jun Wang, David S. Cram, Wei Liu, Pei-Xuan Cao, Xiang-Yu Zhu, Ya-Li Hu   +7 more
doaj   +3 more sources

DNA copy number variations in children with vesicoureteral reflux and urinary tract infections. [PDF]

PLoS ONE, 2019
Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR.
Dong Liang, Kirk M McHugh, Pat D Brophy, Nader Shaikh, J Robert Manak, Peter Andrews, Inessa Hakker, Zihua Wang, Andrew L Schwaderer, David S Hains   +9 more
doaj   +2 more sources

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders [PDF]

Italian Journal of Pediatrics
Background This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li   +9 more
doaj   +2 more sources

Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study [PDF]

Diseases
Background/Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes.
Karin Manto, Sevdican Ustun Yilmaz, Zeliha Pala Kara, Halil Kara, Fatma Tokat, Cemaliye B. Akyerli, Cihan Uras, Meltem Muftuoglu, Ugur Özbek   +8 more
doaj   +2 more sources

Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

Taiwanese Journal of Obstetrics & Gynecology
Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. Materials and methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale.
Honglei Duan, Wanjun Wang, Ying Zhang, Xuemei Chen, Zihan Jiang, Jie Li   +5 more
doaj   +3 more sources

Genomic characterization of ER-positive primary tumors and corresponding relapses identifies potentially targetable alterations [PDF]

npj Breast Cancer
The majority of breast cancer patients have tumors expressing estrogen receptor α (ER) and receive endocrine therapy. However, around one-third relapse in their disease, predominantly with retained ER expression.
Caroline Schagerholm Stanev, Stephanie Robertson, Hosein Toosi, Emmanouil G. Sifakis, Jens Lagergren, Johan Hartman   +5 more
doaj   +2 more sources

Perspective: DNA Copy Number Variations in Cardiovascular Diseases [PDF]

Epigenetics Insights, 2018
Iti Garg, Mohammad Zahid Ashraf
exaly   +2 more sources

DNA Copy Number Variations as Markers of Mutagenic Impact [PDF]

International Journal of Molecular Sciences, 2019
Tigran Harutyunyan, Galina Hovhannisyan, Rouben Aroutiounian   +2 more
exaly   +2 more sources

Cell‐free DNA copy number variations in plasma from colorectal cancer patients [PDF]

Molecular Oncology, 2017
Liang Wang, Jian Li, Meijun Du
exaly   +2 more sources