Results 21 to 30 of about 182,078 (261)

Genomic characteristics of cattle copy number variations

BMC Genomics, 2011
Background Copy number variation (CNV) represents another important source of genetic variation complementary to single nucleotide polymorphism (SNP).
Matukumalli Lakshmi K, Kim Eui-soo, Wang Kai, Cardone Maria, Bickhart Derek M, Liu George E, Hou Yali, Ventura Mario, Song Jiuzhou, VanRaden Paul M, Sonstegard Tad S, Van Tassell Curt P   +11 more
doaj   +1 more source

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

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

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 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

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 Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire   +2 more sources

Copy number variations in female infertility in China

Balkan Journal of Medical Genetics, 2019
Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation ...
Huang W, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang Β   +7 more
doaj   +1 more source