Cargando…

Applying amplification refractory mutation system technique to detecting cell-free fetal DNA for single-gene disorders purpose

Non-invasive prenatal diagnosis for single-gene disorders (NIPD) is still in development and deserves further study. The advent of next-generation sequencing technology significantly improved the detection of multiple mutations for non-invasive prenatal diagnosis for single-gene disorder purposes. H...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tan, Yu, Jian, Hui, Zhang, Ranran, Wang, Jing, Zhou, Cong, Xiao, Yuanyuan, Liang, Weibo, Wang, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10128035/ https://www.ncbi.nlm.nih.gov/pubmed/37113995 http://dx.doi.org/10.3389/fgene.2023.1071406

Ejemplares similares

Set of 15 SNP-SNP Markers for Detection of Unbalanced Degraded DNA Mixtures and Noninvasive Prenatal Paternity Testing
por: Zhang, Rangran, et al.
Publicado: (2022)

Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening
por: Raj, Himanshu, et al.
Publicado: (2022)

A Novel SNP-STR System Based on a Capillary Electrophoresis Platform
por: Jian, Hui, et al.
Publicado: (2021)

Corrigendum: A novel SNP-STR system based on a capillary electrophoresis platform
por: Jian, Hui, et al.
Publicado: (2022)

Whole genome amplification of degraded and nondegraded DNA for forensic purposes
por: Maciejewska, Agnieszka, et al.
Publicado: (2012)

Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing
por: Volozonoka, Ludmila, et al.
Publicado: (2018)

Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer
por: De, Subhajyoti
Publicado: (2021)

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly
por: Tao, Huimin, et al.
Publicado: (2023)

Social differentiation of the perception and human tissues donation for research purposes
por: Majchrowska, Anita, et al.
Publicado: (2022)

Induction of Fetal Hemoglobin by Introducing Natural Hereditary Persistence of Fetal Hemoglobin Mutations in the γ-Globin Gene Promoters for Genome Editing Therapies for β-Thalassemia
por: Lu, Dian, et al.
Publicado: (2022)

The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT
por: Liu, Wanlu, et al.
Publicado: (2022)

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
por: Yang, Lisha, et al.
Publicado: (2017)

Applying a Linear Amplification Strategy to Recombinase Polymerase Amplification for Uniform DNA Library Amplification
por: Lee, Jeewon, et al.
Publicado: (2019)

Multi-Indel: A Microhaplotype Marker Can Be Typed Using Capillary Electrophoresis Platforms
por: Qu, Shengqiu, et al.
Publicado: (2020)

CDK4 Amplification in Esophageal Squamous Cell Carcinoma Associated With Better Patient Outcome
por: Huang, Jie, et al.
Publicado: (2021)

Discovering Copy Number Variation in Dual-Purpose XinJiang Brown Cattle
por: Zhou, Jinghang, et al.
Publicado: (2022)

Genome editing of human embryos for research purposes: Japanese lay and expert attitudes
por: Akatsuka, Kyoko, et al.
Publicado: (2023)

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum
por: Jiang, Ying, et al.
Publicado: (2019)

Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene
por: Xu, Min, et al.
Publicado: (2022)

Detection of Mitochondrial Mutations Through Isothermal Nucleic Acid Amplification Coupled With Clustered Regularly Interspaced Short Palindromic Repeat-Associated Endonuclease Cas13a
por: Jiang, Hua, et al.
Publicado: (2021)

Fragment Enrichment of Circulating Tumor DNA With Low-Frequency Mutations
por: Liu, Xiaojun, et al.
Publicado: (2020)

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21
por: Yang, Jiexia, et al.
Publicado: (2023)

Diagnostic Accuracy of Droplet Digital PCR and Amplification Refractory Mutation System PCR for Detecting EGFR Mutation in Cell-Free DNA of Lung Cancer: A Meta-Analysis
por: Li, Caichen, et al.
Publicado: (2020)

KRAS gene amplification and overexpression but not mutation associates with aggressive and metastatic endometrial cancer
por: Birkeland, E, et al.
Publicado: (2012)

Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report
por: Zhang, Tao, et al.
Publicado: (2022)

Maternal Diet during Pregnancy Induces Gene Expression and DNA Methylation Changes in Fetal Tissues in Sheep
por: Lan, Xianyong, et al.
Publicado: (2013)

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
por: Maresca, Alessandra, et al.
Publicado: (2015)

Diagnostic accuracy of circulating free DNA testing for the detection of KRAS mutations in non-small cell lung cancer: A systematic review and meta-analysis
por: Palmieri, Maria, et al.
Publicado: (2022)

Genome-Wide Analysis of Cell-Free DNA Methylation Profiling for the Early Diagnosis of Pancreatic Cancer
por: Li, Shengyue, et al.
Publicado: (2020)

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
por: Sun, Yixi, et al.
Publicado: (2019)

Size-selective separation and overall-amplification of cell-free fetal DNA fragments using PCR-based enrichment
por: Yang, Qiwei, et al.
Publicado: (2017)

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
por: Tang, Hui, et al.
Publicado: (2021)

Applying DNA rolling circle amplification in fluorescence imaging of cell surface glycans labeled by a metabolic method
por: Zhang, Xiaoru, et al.
Publicado: (2016)

Immune Reactivation by Cell-Free Fetal DNA in Healthy Pregnancies Re-Purposed to Target Tumors: Novel Checkpoint Inhibition in Cancer Therapeutics
por: Enninga, Elizabeth Ann L., et al.
Publicado: (2015)

Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies
por: Li, Qianqian, et al.
Publicado: (2022)

Teratogenic Genesis in Fetal Malformations
por: Kaleelullah, Roohi Afshan, et al.
Publicado: (2021)

Fetal hyperechoic kidney cohort study and a meta-analysis
por: Yang, Wei, et al.
Publicado: (2023)

Potential predictive value of circulating tumor DNA (ctDNA) mutations for the efficacy of immune checkpoint inhibitors in advanced triple-negative breast cancer
por: Tan, Qiaorui, et al.
Publicado: (2023)

Genetic Link Determining the Maternal-Fetal Circulation of Vitamin D
por: Sampathkumar, Aparna, et al.
Publicado: (2021)

Systematic Evaluation of a Novel 6-dye Direct and Multiplex PCR-CE-Based InDel Typing System for Forensic Purposes
por: Fan, Haoliang, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_79vuoam9ematfjfatla09b0qf1