Results 101 to 110 of about 353,576 (232)

Copy number variations in urine cell free DNA as biomarkers in advanced prostate cancer

OncoTarget, 2016
Genetic profiling of urine cell free DNA (cfDNA) has not been evaluated in advanced prostate cancer. We performed whole genome sequencing of urine cfDNAs to identify tumor-associated copy number variations in urine before and after initiating androgen ...
Yun Xia, Chiang-Ching Huang, Rachel L. Dittmar, Meijun Du, Y. Wang, Hongyan Liu, N. Shenoy, Liang Wang, M. Kohli   +8 more
semanticscholar   +1 more source

Genetic insights into neurodevelopment: the critical role of copy number variations in neurodevelopmental disorders

Future Journal of Pharmaceutical Sciences
Neurodevelopmental disorders (NDDs) significantly affect brain development, leading to challenges in communication, learning, and emotional regulation.
Muqtada Shaikh, Gaurav Doshi
doaj   +1 more source

Arsenic-related DNA copy-number alterations in lung squamous cell carcinomas

British Journal of Cancer, 2010
Background:Lung squamous cell carcinomas (SqCCs) occur at higher rates following arsenic exposure. Somatic DNA copy-number alterations (CNAs) are understood to be critical drivers in several tumour types.
Victor D. Martinez, T. P. Buys, M. Adonis, H. Benitez, I. Gallegos, S. Lam, W. Lam, L. Gil   +7 more
semanticscholar   +1 more source

Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer [PDF]

Iran Biomed J, 2021
Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M.   +12 more
europepmc   +1 more source

Mosaic TP63 variant and associated ectodermal dysplasia features

JAAD Case Reports, 2021
Vivien Chen, BS, Naiem Issa, MD, PhD, Fernanda Bellodi Schmidt, MD   +2 more
doaj   +1 more source

Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability

Clinical Case Reports
Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal ...
Jing Y. Hsu, Daniah H. Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
doaj   +1 more source

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold. [PDF]

Sovrem Tekhnologii Med, 2021
Kievskaya JK, Shilova NV, Kanivets IV, Kudryavtseva EV, Pyankov DV, Korostelev SA.   +5 more
europepmc   +1 more source

Conumee 2.0: enhanced copy-number variation analysis from DNA methylation arrays for humans and mice

Bioinform.
Motivation Copy-number variations (CNVs) are common genetic alterations in cancer and their detection may impact tumor classification and therapeutic decisions.
Bjarne Daenekas, E. Pérez, Fabio Boniolo, Sabina Stefan, S. Benfatto, M. Sill, D. Sturm, David T. W. Jones, D. Capper, M. Zapatka, V. Hovestadt   +10 more
semanticscholar   +1 more source

Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. [PDF]

, 2009
Progress in the management of patients with myelodysplastic syndromes (MDS) has been hampered by the inability to detect cytogenetic abnormalities in 40-60% of cases.
Bueso-Ramos, CE, Estey, EH, Garcia-Manero, G, Gilliland, DG, Heinrichs, S, Issa, J-P, Kantarjian, HM, Kornblau, SM, Kulkarni, RV, Levine, RL, Li, C, Loh, ML, Look, AT, Neuberg, D   +13 more
core   +1 more source

Cell-free DNA chromosome copy number variations predict outcomes in plasma cell myeloma

Blood Cancer Journal, 2023
Wanting Qiang, Lina Jin, Tiancheng Luo, Yanchun Jia, Jing Lu, Jin Liu, Haiyan He, Ziliang Qian, Sridurga Mithraprabhu, Yang Liang, Robert Peter Gale, Xia Tao, Depei Wu, Juan Du   +13 more
doaj   +1 more source