Zobrazeno 1 - 10
of 1 980
pro vyhledávání: '"CNV (copy number variant)"'
Akademický článek
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Autor:
Zoe Schmilovich, Vincent-Raphaël Bourque, Elise Douard, Guillaume Huguet, Cécile Poulain, Jay P. Ross, Paria Alipour, Charles-Étienne Castonguay, Nadine Younis, Martineau Jean-Louis, Zohra Saci, Zdenka Pausova, Tomas Paus, Gunter Schuman, David Porteous, Gail Davies, Paul Redmond, Sarah E. Harris, Ian J. Deary, Heather Whalley, Caroline Hayward, Patrick A. Dion, Sébastien Jacquemont, Guy A. Rouleau
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
IntroductionRare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer susceptibility for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle the effects
Externí odkaz:
https://doaj.org/article/9d42e1c4950f40a680ea76ab28d013fb
Publikováno v:
Genetics in Medicine. 17:714-718
Copy-number variants have been associated with a variety of diseases, especially cancer, autism, schizophrenia, and developmental delay. The majority of clinically relevant events occur de novo, necessitating the interpretation of novel events. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee88016a3b9fd8d799d547bdbe885d9
https://doi.org/10.1038/gim.2014.180
https://doi.org/10.1038/gim.2014.180
Autor:
Liuqing Yang, Ling Peng, Ke Yuan, Kanru Cai, Cheng Feng, Gendong Yang, Shunyao Wang, Xiuyun Zhu, Jieyun Zhang, Fuxiang Wang, Hongzhou Lu
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 13 (2023)
In this report, we describe the first case of infective endocarditis caused by Mycobacterium kansasii in a 45-year-old male patient who presented with a 10-day fever and decompensated cirrhosis. Despite negative results in blood culture and pathology
Externí odkaz:
https://doaj.org/article/bd300ae0ab7b4982bed827f5e82956f8
Autor:
Zhuo Li, Yirui Wang, Wencheng Fan, Chang Zhang, Hao Liu, Ruixue Zhang, Lu Cao, Qi Zhen, Weiwei Chen, Yafen Yu, Bao Li, Yiwen Mao, Yuanming Bai, Daiyue Wang, Sihan Luo, Yuanyuan Li, Qin Qin, Huiyao Ge, Liang Yong, Xia Hu, Yanxia Yu, Liangdan Sun
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Backround: Leprosy is very prevalent in many populations around the world, which is well known that both alleles for human leukocyte antigen (HLA) as well as single nucleotide polymorphisms (SNPs) in the HLA region are common in leprosy patients. Pre
Externí odkaz:
https://doaj.org/article/48de7ac6ea524237b66f8195876f2b27
Autor:
Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inver
Externí odkaz:
https://doaj.org/article/d442877cef694c318e8f2e16eaba1c2f
Autor:
Tong Yi, Hairui Sun, Yuwei Fu, Xiaoyan Hao, Lin Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Xiaowei Liu, Yong Guo, Xin Wang, Xiaoxue Zhou, Siyao Zhang, Qi Yang, Jiaqi Fan, Yihua He
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Objectives: Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce. Here, we aimed to inves
Externí odkaz:
https://doaj.org/article/3b575c98110f4450891f1e558d386aed
Akademický článek
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Autor:
Milen Velinov
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is n
Externí odkaz:
https://doaj.org/article/d99b6e888cfa4db88352f99f2cd31d30
Akademický článek
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