Results 1 to 10 of about 288,183 (227)

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   +4 more sources

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

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

BMC Bioinformatics, 2012
Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang, Lange Kenneth, Sabatti Chiara   +2 more
doaj   +6 more sources

Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss-A Pilot Study. [PDF]

Nutrients, 2022
Cancello R, Rey F, Carelli S, Cattaldo S, Fontana JM, Goitre I, Ponzo V, Merlo FD, Zuccotti G, Bertoli S, Capodaglio P, Bo S, Brunani A.   +12 more
europepmc   +5 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

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   +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

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. [PDF]

BMC Genomics, 2015
Žilina O, Koltšina M, Raid R, Kurg A, Tõnisson N, Salumets A.   +5 more
europepmc   +3 more sources

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

Int J Mol Sci, 2019
Hovhannisyan G, Harutyunyan T, Aroutiounian R, Liehr T.   +3 more
europepmc   +3 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   +1 more source