Results 151 to 160 of about 130,329 (268)

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH. [PDF]

Clin Case Rep
Bryant LM, Hokanson R, Hickey SE, Zapanta B, Hunter J, Reshmi SC.   +5 more
europepmc   +1 more source

Genomic signature driving preinvasive to invasive processes in stage I lung adenocarcinoma

International Journal of Cancer, EarlyView.
What's New? The progression of lung cancer from minimally invasive adenocarcinoma (MIA) to invasive adenocarcinoma (IA) is a complex process involving molecular and microenvironment changes. Key molecular events that drive the invasion process, however, remain poorly characterized. In this comparison of gene profiles and differentially mutated genes in
Biqin Mou, Yishan Duan, Jing Wang, Tiantian Li, Yuwei Huo, Xia Xiao, Conghui Cui, Zhujun Deng, Qiongxia Hu, Juan Jiang, Yiwei Liang, Sifen Lu, Xintong Tao, Kang Xie, Xinru Xiong, Niu Zhu, Liyun Bi, Faqiang Zhang, Weimin Li, Bojiang Chen   +19 more
wiley   +1 more source

Comparative genomic analysis of Artemisia argyi reveals asymmetric expansion of terpene synthases and conservation of artemisinin biosynthesis. [PDF]

Plant J
Chen X, Liao B, Wu D, Li C, Li Z, Huang Z, Duan L, Shen Q.   +7 more
europepmc   +1 more source

Fast bootstrap and reliable readout using hidden references for DNA data storage

iMeta, EarlyView.
This study provides a bootstrap readout framework for DNA data storage based on multiple‐fold hidden references. We employ a multi‐stage alignment and error correction strategy, transforming the de novo readout into a resequencing‐like workflow. Correlation to the hidden watermark reference identifies low‐error‐rate reads, and bit‐wise consensus ...
Weigang Chen, Shuang Liu, Quan Guo, Rui Qin, Qi Ge, Tingting Qi, Yingjin Yuan   +6 more
wiley   +1 more source

A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization. [PDF]

Mol Cytogenet
Zhang B, Zhang C, Chen P, Hao R, An L.
europepmc   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

Is Micronucleus Assay a Suitable Biomarker for Evaluating the Cancer Risk in Professionals Exposed to Antineoplastic Drugs? A Systematic Review

Journal of Applied Toxicology, EarlyView.
ABSTRACT The widespread use of antineoplastic drugs in cancer treatment has led to significant concerns regarding the potential health risks posed to healthcare professionals involved in the preparation, administration, and handling of these chemical compounds, including genotoxicity.
Thiago Guedes Pinto, Lorrany da Silva Avanci, Gabriel Carvalhal de Aguiar, Daniel Vitor de Souza, Patricia Ramos Cury, Ana Claudia Muniz Renno, Daniel Araki Ribeiro   +6 more
wiley   +1 more source

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders. [PDF]

BMC Med Genomics
Mohamed AM, Eid OM, Amr KS, Mahrous R, Hemimi M, Elsaeid A, Erian PSF, Gharib S, Hussein SH, El-Massieh PMA, Meguid NA.   +10 more
europepmc   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Genome-wide identification, characterization, and evolutionary analysis of the HSP70 gene family in rice (Oryza sativa L.). [PDF]

BMC Plant Biol
Radwan NS, Lamlom SF, Emwas AH, Jaremko M, Abdelsalam NR.   +4 more
europepmc   +1 more source