Results 21 to 30 of about 468,666 (268)

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

Cells, 2019
Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they
Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis   +14 more
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Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

BMC Pregnancy and Childbirth, 2021
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen, Yong-Feng Lai, Xiao-Hong Zhong, Jian-Hong You, Jiang-Hua Chen, Jing-Xian Xie, Xiao-Kang Chen, Xiao-Yan Chen, Guo-Rong Lyu   +8 more
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Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]

Journal of Analytical Research in Clinical Medicine, 2018
Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi, Hossein Alikhah, Sharareh Barband, Fereshteh Farhadi, Mohammad Naghavi-Behzad, Saeed Jodi-Khajeh, Sahar Mohammadi, Reza Piri   +7 more
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Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations

The Application of Clinical Genetics, 2021
Matthew J Rabinowitz, Phillip J Huffman, Nora M Haney, Taylor P Kohn The James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USACorrespondence: Taylor P KohnJames Buchanan Brady Urological Institute ...
Rabinowitz MJ, Huffman PJ, Haney NM, Kohn TP   +3 more
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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
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Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements

Frontiers in Genetics, 2023
PurposeTo study the accuracy of non-invasive chromosomal screening (NICS) results, in normal chromosomes and chromosomal rearrangement groups and to investigate whether using trophoblast cell biopsy along with NICS, to choose embryos for transfer can ...
Bo-lan Sun, Yong Wang, Sixi-Wen, Liang Zhou, Chun-hui Zhang, Ze-Xuan Wu, Jie Qiao, Qing-yuan Sun, Ya-xin Yao, Jing Wang, Zi-Yun Yi, Wei-Ping Qian   +11 more
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A case–control study identifying the frequency and spectrum of chromosomal anomalies and variants in a cohort of 1000 couples with a known history of recurrent pregnancy loss in the Eastern region of India

Journal of Human Reproductive Sciences, 2021
Background: Recurrent pregnancy loss (RPL) is a common occurrence that affects up to 15% of couples in their reproductive years. In both males and females with RPL and infertility, chromosomal abnormalities play a significant impact.
Abhik Chakraborty, Sujata Kar, Purna Chandra Mohapatra, Birendranath Banerjee   +3 more
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Chromosomal instability in Streptomyces avermitilis: major deletion in the central region and stable circularized chromosome

BMC Microbiology, 2010
Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as ...
Wen Ying, Chen Zhi, Zhang Xiaojuan, He Fei, Chen Wei, Li Jilun   +5 more
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Clinical significance of chromosomal integrity in gastric cancers

The International Journal of Biological Markers, 2022
Background A whole-exome or targeted cancer genes panel by next-generation sequencing has been used widely in assisting individualized treatment decisions. Currently, multiple algorithms are developed to estimate DNA copy numbers based on sequencing data,
Rukui Zhang, Zhaorui Liu, Xusheng Chang, Yuan Gao, Huan Han, Xiaona Liu, Hui Cai, Qiqing Fu, Lei Liu, Kai Yin   +9 more
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In silico characterization of chromosomally integrated blaCTX-M genes among clinical Enterobacteriaceae in Africa: insights from whole-genome analysis

Frontiers in Microbiology
Antimicrobial resistance (AMR) mediated by extended-spectrum β-lactamases (ESBLs) is a growing global concern, particularly among Enterobacteriaceae. The CTX-M-type ESBLs, encoded by the blaCTX-M gene, are of significant public health importance due to ...
Misheck Shawa, Misheck Shawa, Herman Chambaro, Harvey K. Kamboyi, Clement Sulwe, Joseph Y. Chizimu, Situmbeko J. Nasilele, Shohei Ogata, Shohei Ogata, Mulemba Samutela, Tuvshinzaya Zorigt, Steward Mudenda, Manyando Simbotwe, Mwamba Nsofwa, Jedidiah Chanda, Freeman Chabala, Mike Nundwe, Mike Nundwe, Joseph Ndebe, Msangwa Sinjani, Kyoko Hayashida, Kyoko Hayashida, Naganori Nao, Naganori Nao, Naganori Nao, Roma Chilengi, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Yasuhiko Suzuki, Yasuhiko Suzuki, Bernard Hang'ombe, Bernard Hang'ombe, Masahiro Kajihara, Masahiro Kajihara, Masahiro Kajihara, Hideaki Higashi, Hideaki Higashi   +41 more
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