Zobrazeno 1 - 10
of 341
pro vyhledávání: '"Mate pair"'
Autor:
Dehua Cheng, Hebatallah Ibrahim, Keli Luo, Yifan Gu, Pingyuan Xie, Yanqin Xiao, Jingpeng Cai, Xianhong Wu, Ge Lin, Yueqiu Tan, Liang Hu
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Several reports have presented that balanced chromosomal rearrangements (BCRs) carriers with normal phenotypes may be carriers of complex rearrangements. However, the incidence and PGT clinical outcomes of cryptic complex chromosome rearrang
Externí odkaz:
https://doaj.org/article/6f773524384d49d18e88c1f31581c74f
Autor:
Michael Phan, Maria A. Gomes, Victoria Stinnett, Laura Morsberger, Nicole L. Hoppman, Kathryn E. Pearce, Kirstin Smith, Brian Phan, Liqun Jiang, Ying S. Zou
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 598 (2024)
Complex structural chromosome abnormalities such as chromoanagenesis have been reported in acute myeloid leukemia (AML). They are usually not well characterized by conventional genetic methods, and the characterization of chromoanagenesis structural
Externí odkaz:
https://doaj.org/article/8b773efe20884d7cacf0d9bc3f123143
Akademický článek
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Autor:
Dalin Fu, Weisheng Lin, Fen Lu, Senjie Du, Min Zhu, Xiaoke Zhao, Jian Tang, Chuan Chen, Xiaoli Chui, Shanmei Tang, Kai Wang, Chuanchun Yang, Bei Han
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Interstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia. The phenotypes involved were heterogeneous, hinge on the variable bre
Externí odkaz:
https://doaj.org/article/dad7b4dbdff94bdca5fc5603724feb5b
Autor:
Cinthya J. Zepeda‐Mendoza, Anna Essendrup, Stephanie A. Smoley, Sarah H. Johnson, Nicole L Hoppman, George Vasmatzis, Daniel L. Jackson, Hutton M. Kearney, Linda B. Baughn
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Externí odkaz:
https://doaj.org/article/b75342e9196e4580a66a44c90a6d35e5
Publikováno v:
Food Chemistry: Molecular Sciences, Vol 4, Iss , Pp 100061- (2022)
Basic data for the safety assessment of transgenic line involves the molecular characterization of the integration site of exogenous DNA, flanking sequences, copy number, and unintended plasmid backbone residues. However, performing a full molecular
Externí odkaz:
https://doaj.org/article/7cc50e4ca5354dfca3e273c5f36f34fd
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 3302-3309 (2020)
Abstract B‐cell lymphomas with atypical presentation or immunophenotype pose diagnostic challenges. Conventional ancillary tests (cytogenetics, FISH) can help, but have technical limitations. New technologies such as mate‐pair sequencing (MPSeq)
Externí odkaz:
https://doaj.org/article/d79b427b13454517a03574cfa861e8df
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution should be exercised
Externí odkaz:
https://doaj.org/article/d9533bde8238439a88a6760998fc0492
Autor:
Jian Ou, Chuanchun Yang, Xiaoli Cui, Chuan Chen, Suyan Ye, Cai Zhang, Kai Wang, Jianguo Chen, Qin Zhang, Chunfeng Qian, Guangguang Fang, Wenyong Zhang
Publikováno v:
Reproductive Biology and Endocrinology, Vol 18, Iss 1, Pp 1-7 (2020)
Abstract Background The study is aimed to provide prediction for fertility risk in the setting of assisted reproduction for a woman with complex chromosomal rearrangements (CCRs). Methods We implemented a robust approach, which combined whole-genome
Externí odkaz:
https://doaj.org/article/5635094f4ba04346bf95ffb92f81ddef
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