Results 1 to 10 of about 106,656 (293)

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   +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   +7 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

A novel technique for measuring variations in DNA copy-number: competitive genomic polymerase chain reaction [PDF]

BMC Genomics, 2007
Background Changes in genomic copy number occur in many human diseases including cancer. Characterization of these changes is important for both basic understanding and diagnosis of these diseases. Microarrays have recently become the standard technique
Nakagawara Akira, Kawamoto Shoko, Saito Sakae, Nakamura Yohko, Maekawa Kazunori, Iwao-Koizumi Kyoko, Kato Kikuya   +6 more
doaj   +2 more sources

Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. [PDF]

PLoS ONE, 2008
Copy Number Variations (CNVs) of regions of the human genome have been associated with multiple diseases. We present an algorithm which is mathematically sound and computationally efficient to accurately analyze CNV in a DNA sample utilizing a ...
Simant Dube, Jian Qin, Ramesh Ramakrishnan   +2 more
doaj   +3 more sources

Correction to: sciCNV: high-throughput paired profiling of transcriptomes and DNA copy number variations at single-cell resolution. [PDF]

Brief Bioinform, 2023
europepmc   +3 more sources

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

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

Examining neurodevelopmental problems in 15q11.2 (BP1‐BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample

Molecular Genetics & Genomic Medicine, 2023
Background Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity ...
Lina Jonsson, Joanna Martin, Paul Lichtenstein, Patrik K. E. Magnusson, Sebastian Lundström, Lars Westberg, Kristiina Tammimies   +6 more
doaj   +1 more source

Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer. [PDF]

PLoS ONE, 2012
BACKGROUND: Genomic instability with frequent DNA copy number alterations is one of the key hallmarks of carcinogenesis. The chromosomal regions with frequent DNA copy number gain and loss in human gastric cancer are still poorly defined.
Biao Fan, Somkid Dachrut, Ho Coral, Siu Tsan Yuen, Kent Man Chu, Simon Law, Lianhai Zhang, Jiafu Ji, Suet Yi Leung, Xin Chen   +9 more
doaj   +1 more source

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

European Journal of Medical Research, 2021
Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán   +9 more
doaj   +1 more source