Results 31 to 40 of about 10,451,845 (193)

Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +1 more source

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

E2F1 germline copy number variations and melanoma susceptibility

Journal of Translational Medicine, 2019
Background Melanoma is an aggressive type of skin cancer whose aetiology remains elusive as both environmental and genetic factors can contribute to its development.
Maria Santa Rocca, Clara Benna, Simone Mocellin, Carlo Riccardo Rossi, Aichi Msaki, Andrea Di Nisio, Giuseppe Opocher, Carlo Foresta   +7 more
doaj   +1 more source

Copy number, linkage disequilibrium and disease association in the FCGR locus [PDF]

, 2010
The response of a leukocyte to immune complexes (ICs) is modulated by receptors for the Fc region of IgG (FcgammaRs), and alterations in their affinity or function have been associated with risk of autoimmune diseases, including systemic lupus ...
Padyukov, L, T. F. Rayner, Willcocks, Lisa C, W. Yang, L. C. Willcocks, J. A. G. Scott, S. J. Dunstan, Rayner, Tim F, I. Gunnarsson, Niederer, Heather A., Smith, KG, Peshu, N, B. C. Urban, Svenungsson, Elisabet, Scott, John, Clayton, David G., P. A. Lyons, Niederer, Heather A, Williams, TN, Lyons, Paul A., Urban, Britta, Scott, J. Anthony G., Y. L. Lau, Yang, Wanling, Williams, Thomas N., Willcocks, LC, L. Padyukov, Clayton, David G, N. Peshu, Watts, Richard A., Savage, Caroline, Yang, W, Dunstan, SJ, Dunstan, Sarah, Urban, BC, Watts, RA, N. H. Phu, T. T. Hien, Phu, Nguyen Hoan, Rayner, TF, Scott, JAG, Hien, Tran, Willcocks, Lisa C., Clayton, DG, Savage, CO, Lyons, PA, T. N. Williams, E. Svenungsson, K. G. C. Smith, Rayner, Tim F., Hien, TT, Hien, Tran Tinh, Svenungsson, E, Padyukov, Leonid, Smith, Kenneth G.C., Gunnarsson, I, Savage, Caroline O, Smith, Kenneth G C, Gunnarsson, Iva, Peshu, Norbert, Lau, YL, Phu, NH, Smith, KGC, Lau, Yu Lung, R. A. Watts, Watts, Richard A, Savage, Caroline O., Scott, JA, H. A. Niederer, Scott, J Anthony G, Urban, Britta C, Smith, Kenneth GC, Williams, Thomas N, C. O. Savage, D. G. Clayton, Niederer, HA, Williams, Thomas, Dunstan, Sarah J., Dunstan, Sarah J, Lyons, Paul A   +79 more
core   +2 more sources

Copy number variations (CNVs) identified in Korean individuals

BMC Genomics, 2008
Background Copy number variations (CNVs) are deletions, insertions, duplications, and more complex variations ranging from 1 kb to sub-microscopic sizes.
Kim Yong, Lee Siwoo, Park Jong-Lyul, Kim Jeong-Hwan, Kim Hee-Jin, Jang Eunsu, Jeon Yeo-Jin, Kang Tae-Wook, Kim Jong, Kim Seon-Young   +9 more
doaj   +1 more source

Genome-wide identification of copy number variations in Chinese Holstein. [PDF]

PLoS ONE, 2012
Recent studies of mammalian genomes have uncovered the vast extent of copy number variations (CNVs) that contribute to phenotypic diversity. Compared to SNP, a CNV can cover a wider chromosome region, which may potentially incur substantial sequence ...
Li Jiang, Jicai Jiang, Jiying Wang, Xiangdong Ding, Jianfeng Liu, Qin Zhang   +5 more
doaj   +1 more source

Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus) [PDF]

, 2014
Copy–number variants (CNVs) may play an important role in early adaptations, potentially facilitating rapid divergence of populations. We describe an approach to study this question by investigating CNVs present in natural populations of mice in the ...
Diethard eTautz, JarosÅ‚aw Bryk, Bryk, Jarek, Tautz, D. ; https://orcid.org/, Jarosław eBryk, Bryk, J., Diethard Tautz, Tautz, Diethard   +7 more
core   +1 more source

Copy Number Variation Disorders [PDF]

Current Genetic Medicine Reports, 2017
Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
openaire   +2 more sources

Including copy number variation in association studies to predict genotypic values [PDF]

, 2010
The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L., Haley, C.S., Koning, de, D.J.   +2 more
core   +1 more source

Case report: Fetal cervical immature teratoma and copy number variations

Frontiers in Oncology, 2022
Fetal cervical teratoma is a rare congenital neck tumor. Here, we report a case of a fetus with an anterior solid neck tumor that was confirmed to have an immature teratoma by histology. A duplication was found at chromosome 14q24.1-q24.3 of the fetus in
Dianjie Li, Hong Gao, Wanting Zheng, Chunzhu Jin, Yuxin Huang, Shilei Pan   +5 more
doaj   +1 more source