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。Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus
Seong-Keun Yoo et al.
CLINICAL CHEMISTRY (2015)
Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma
Chen Zhao et al.
CLINICAL CHEMISTRY (2015)
Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients
Peiyong Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies
H. Zhang et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2015)
Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing
Dingyuan Ma et al.
GENE (2014)
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia
Wei Gu et al.
GENETICS IN MEDICINE (2014)
Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma
Maria I. New et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience
K. E. Pettit et al.
JOURNAL OF PERINATOLOGY (2014)
Maternal Plasma Fetal DNA Fractions in Pregnancies with Low and High Risks for Fetal Chromosomal Aneuploidies
Irena Hudecova et al.
PLOS ONE (2014)
Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing
K. C. Allen Chan et al.
CLINICAL CHEMISTRY (2013)
Scanning for Cancer Genomic Changes in Plasma: Toward an Era of Personalized Blood-Based Tumor Markers
K. C. Allen Chan
CLINICAL CHEMISTRY (2013)
Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia
Huijuan Ge et al.
PLOS ONE (2013)
Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma
Stephanie C. Y. Yu et al.
PLOS ONE (2013)
Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing
K. C. Allen Chan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing
Shengpei Chen et al.
GENOME MEDICINE (2013)
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
Kypros H. Nicolaides et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2012)
Nonhematopoietically Derived DNA Is Shorter than Hematopoietically Derived DNA in Plasma: A Transplantation Model
Yama W. L. Zheng et al.
CLINICAL CHEMISTRY (2012)
Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia
Kwan-Wood G. Lam et al.
CLINICAL CHEMISTRY (2012)
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2012)
Non-invasive prenatal measurement of the fetal genome
H. Christina Fan et al.
NATURE (2012)
Noninvasive Prenatal Testing for Fetal Aneuploidy
[Anonymous]
OBSTETRICS AND GYNECOLOGY (2012)
Noninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA
Gary J. W. Liao et al.
PLOS ONE (2012)
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
Bernhard Zimmermann et al.
PRENATAL DIAGNOSIS (2012)
Noninvasive Whole-Genome Sequencing of a Human Fetus
Jacob O. Kitzman et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience
P. G. Scheffer et al.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2011)
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
Nancy B. Y. Tsui et al.
BLOOD (2011)
Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles
Gary J. W. Liao et al.
CLINICAL CHEMISTRY (2011)
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2011)
Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
Eric Z. Chen et al.
PLOS ONE (2011)
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
Rossa W. K. Chiu et al.
BMJ-BRITISH MEDICAL JOURNAL (2011)
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
Y. M. Dennis Lo et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
Fiona M. F. Lun et al.
CLINICAL CHEMISTRY (2008)
Systematic search for placental DNA-methylation markers on chromosome 21: Toward a maternal plasma-based epigenetic test for fetal trisomy 21
Stephen S. C. Chim et al.
CLINICAL CHEMISTRY (2008)
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
Fiona M. F. Lun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Rossa W. K. Chiu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible
Sina P. Mueller et al.
TRANSFUSION (2008)
Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women:: prospective feasibility study
Kirstin Finning et al.
BRITISH MEDICAL JOURNAL (2008)
On-chip, real-time, single-copy polymerase chain reaction in picoliter droplets
N. Reginald Beer et al.
ANALYTICAL CHEMISTRY (2007)
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
Y. M. Dennis Lo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Microfluidic digital PCR enables multigene analysis of individual environmental bacteria
Elizabeth A. Ottesen et al.
SCIENCE (2006)
Hypermethylated RASSF1A in maternal plasma:: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis
K. C. Allen Chan et al.
CLINICAL CHEMISTRY (2006)
Getting more from digital SNP data
Noureddine El Karoui et al.
STATISTICS IN MEDICINE (2006)
Integrated polymerase chain reaction chips utilizing digital microfluidics
Yi-Hsien Chang et al.
BIOMEDICAL MICRODEVICES (2006)
Non-invasive antenatal RHD typing
CE Van der Schoot et al.
TRANSFUSION CLINIQUE ET BIOLOGIQUE (2006)
Detection of the placental epigenetic signature of the maspin gene in maternal plasma
SSC Chim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Single-molecule PCR using water-in-oil emulsion
M Nakano et al.
JOURNAL OF BIOTECHNOLOGY (2003)
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR
MC González-González et al.
PRENATAL DIAGNOSIS (2003)
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
H Saito et al.
LANCET (2000)