Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing
出版年份 2014 全文链接
标题
Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing
作者
关键词
-
出版物
PRENATAL DIAGNOSIS
Volume 35, Issue 3, Pages 258-265
出版商
Wiley
发表日期
2014-11-14
DOI
10.1002/pd.4536
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- OP35.09: Risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis
- (2014) R. Akolekar et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia
- (2013) Thessalia Papasavva et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing
- (2013) D. I. Lou et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers
- (2012) Michael Quail et al. BMC GENOMICS
- Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to -Thalassemia
- (2012) K.-W. G. Lam et al. CLINICAL CHEMISTRY
- Performance comparison of benchtop high-throughput sequencing platforms
- (2012) Nicholas J Loman et al. NATURE BIOTECHNOLOGY
- A method for counting PCR template molecules with application to next-generation sequencing
- (2011) J. A. Casbon et al. NUCLEIC ACIDS RESEARCH
- Detection and quantification of rare mutations with massively parallel sequencing
- (2011) I. Kinde et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries
- (2011) Daniel Aird et al. GENOME BIOLOGY
- Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases
- (2010) S. Galbiati et al. CLINICAL CHEMISTRY
- Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles
- (2010) G. J. W. Liao et al. CLINICAL CHEMISTRY
- Update on Procedure-Related Risks for Prenatal Diagnosis Techniques
- (2010) Ann Tabor et al. FETAL DIAGNOSIS AND THERAPY
- Beta-thalassemia
- (2010) Antonio Cao et al. GENETICS IN MEDICINE
- Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
- (2010) Y. M. D. Lo et al. Science Translational Medicine
- Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders
- (2010) Roshan Colah et al. Expert Review of Hematology
- Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms
- (2009) Thessalia Papasavva et al. Annals of the New York Academy of Sciences
- Size Fractionation of Cell-Free DNA in Maternal Plasma Improves the Detection of a Paternally Inherited β-Thalassemia Point Mutation by MALDI-TOF Mass Spectrometry
- (2009) Ying Li et al. FETAL DIAGNOSIS AND THERAPY
- Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma
- (2008) F. M. F. Lun et al. CLINICAL CHEMISTRY
- Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of -thalassemia
- (2008) S. Galbiati et al. HAEMATOLOGICA
- Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
- (2008) F. M. F. Lun et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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