Fenxia Li
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View article: Review of: "Non-Invasive Prenatal Testing (NIPT) for Aneuploidy in a Setting with a High Consanguineous Rate – A Retrospective Cohort Review of 1,153 Cases"
Review of: "Non-Invasive Prenatal Testing (NIPT) for Aneuploidy in a Setting with a High Consanguineous Rate – A Retrospective Cohort Review of 1,153 Cases" Open
This is a good write manuscript, direct and simply, but there are 3 important things I am concerned: First one, please show the mean and the interquartile range (Q1,Q3) of gestational week (GA) in Table 1.Based on figure 1, the gestational…
View article: Supplement of Regions of homozygosity detected using single nucleotide polymorphism array in prenatal diagnosis
Supplement of Regions of homozygosity detected using single nucleotide polymorphism array in prenatal diagnosis Open
Supplement
View article: Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Open
Background Chromosomal aneuploidy is the most common birth defect. However, the developmental mechanism and gene expression profile of fetuses with chromosomal aneuploidy are relatively unknown, and the maternal immune changes induced by f…
View article: Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review Open
Objective: Since 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion with both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this testing tool, have lagged behind. Thu…
View article: Non-invasive prenatal test findings in 41,819 pregnant women: Results from a clinical laboratory in southern China
Non-invasive prenatal test findings in 41,819 pregnant women: Results from a clinical laboratory in southern China Open
Background: This paper evaluated the clinical utility of massively parallel sequencing-based non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21), T18, T13, sex chromosome aneuploidies (SCA), and rare chromosome aneuploides …
View article: Additional file 1 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Additional file 1 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Open
Additional file 1: Table S1. Differential promoter coverage genes and GO, KEGG enrichment analysis results of differential genes for all pregnant women with trisomy.
View article: Additional file 5 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Additional file 5 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Open
Additional file 5: Table S5. Immunity genes with differential promoter coverage in all trisomic pregnant women.
View article: Additional file 2 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Additional file 2 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Open
Additional file 2: Table S2. Differential promoter coverage genes and GO, KEGG enrichment analysis results of differential genes for pregnant women with trisomy 21.
View article: Additional file 4 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Additional file 4 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Open
Additional file 4: Table S4. Differential promoter coverage genes and GO, KEGG enrichment analysis results of differential genes for pregnant women with trisomy 13.
View article: Additional file 3 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Additional file 3 of Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Open
Additional file 3: Table S3. Differential promoter coverage genes and GO, KEGG enrichment analysis results of differential genes for pregnant women with trisomy 18.
View article: Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome
Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome Open
The Kagami–Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal unip…
View article: Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations Open
Background Hemophilia B (HB) is an X‐linked recessive inherited bleeding disorder caused by mutations in the F9 gene that lead to plasma factor IX deficiency. To identify the causative mutations in HB, a molecular analysis of HB pedigrees …
View article: Noninvasive prediction of response to cancer therapy using promoter profiling of circulating cell‐free DNA
Noninvasive prediction of response to cancer therapy using promoter profiling of circulating cell‐free DNA Open
Dear Editor, Neoadjuvant radiotherapy and concomitant fluorouracil-based chemoradiotherapy (CRT) followed by total mesorectal excision is the conventional treatment for locally advanced rectal cancer (LARC).1 However, there are individual …
View article: Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing
Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing Open
Chromosomal abnormalities (CAs) can cause spontaneous miscarriage and increase the incidence of subsequent pregnancy loss and other complications. Presently, CAs are detected mainly by array comparative genomic hybridization (CGH) and sing…
View article: Target capture next‐generation sequencing in non‐inversion haemophilia: an alternative approach
Target capture next‐generation sequencing in non‐inversion haemophilia: an alternative approach Open
Haemophilia A (HA) and haemophilia B (HB) are two forms of an X-linked monogenic hereditary disorder caused by mutations in the coagulation factor VIII (F8) and factor IX (F9) genes respectively.1-3 The prevalence of the disorders is 1 in …
View article: Workspace Performance Investigation of a Multi-DOF Parallel Robot Manipulator
Workspace Performance Investigation of a Multi-DOF Parallel Robot Manipulator Open
A five degree of freedom (DOF) parallel robot manipulator is proposed in this paper.Kinematics, workspace and dexterity performance of the 5-SPS-UPU parallel robot manipulator were systematically deduced.The proposed mechanism with two rot…
View article: Curative effect of insulin aspart combined with vitamin D therapy for gestational diabetes mellitus and its effect on umbilical blood flow resistance, adipocytokines and inflammation
Curative effect of insulin aspart combined with vitamin D therapy for gestational diabetes mellitus and its effect on umbilical blood flow resistance, adipocytokines and inflammation Open
Objective: To study the curative effect of insulin aspart combined with vitamin D therapy for
\ngestational diabetes mellitus and its effect on umbilical blood flow resistance, adipocytokines
\nand inflammation. Methods: A total of 104 pat…
View article: Elevation of Fasting Ghrelin in Healthy Human Subjects Consuming a High-Salt Diet: A Novel Mechanism of Obesity?
Elevation of Fasting Ghrelin in Healthy Human Subjects Consuming a High-Salt Diet: A Novel Mechanism of Obesity? Open
Overweight/obesity is a chronic disease that carries an increased risk of hypertension, diabetes mellitus, and premature death. Several epidemiological studies have demonstrated a clear relationship between salt intake and obesity, but the…
View article: A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection
A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection Open
A relatively accurate method was developed to determine the cff DNA fraction in maternal plasma. By optimizing, we can improve cff DNA fractions in sequencing samples, which may contribute to improvements in detection rate and reliability.
View article: Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women
Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women Open
Exposure to high levels of estrogen is considered an important risk factor for susceptibility to breast cancer. Common polymorphisms in genes that affect estrogen levels may be associated with breast cancer risk, but no comprehensive study…