Jiazi Xie
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View article: The establishment of human embryonic stem cell lines demonstrated that chimeric embryos can self-correct
The establishment of human embryonic stem cell lines demonstrated that chimeric embryos can self-correct Open
Background: Low-level mosaicism is a common trait of early human development. Although mosaic embryos may lead to healthy live births, the direct effects of mosaicism are unknown. While embryo self-correction was demonstrated in mouse mode…
View article: Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing
Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing Open
Backgroud Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD . Exonic duplications are common type of pathogenic variants in DMD gene, however, 5’ end exonic duplications containi…
View article: The establishment of human embryonic stem cell lines demonstrated that chimeric embryos can self-correct
The establishment of human embryonic stem cell lines demonstrated that chimeric embryos can self-correct Open
Background Low-level mosaicism is a common trait of early human development. Although mosaic embryos may lead to healthy live births, the direct effects of mosaicism are unknown. While embryo self-correction was demonstrated in mouse model…
View article: The establishment of human embryonic stem cell lines demonstrated that chimeric embryos can self-correct
The establishment of human embryonic stem cell lines demonstrated that chimeric embryos can self-correct Open
Background: Low-level mosaicism is a common trait of early human development. Although mosaic embryos may lead to healthy live births, the direct effects of mosaicism are unknown. While embryo self-correction was demonstrated in mouse mode…
View article: Genetic Etiologic Analysis in 74 Chinese Han Women with Idiopathic Premature Ovarian Insufficiency by Combined Molecular Genetic Testing
Genetic Etiologic Analysis in 74 Chinese Han Women with Idiopathic Premature Ovarian Insufficiency by Combined Molecular Genetic Testing Open
Premature ovarian insufficiency (POI) refers to women premature amenorrhea before the age of 40, elevated levels of follicle stimulating hormone (FSH). In clinic, the etiology of POI remains unknown in most patients. In this study, seventy…
View article: Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology
Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology Open
A high chromosomal abnormality detection rate on CVSs from early spontaneous miscarriage was achieved by array CGH and NGS. Specifically, the detection of submicroscopic recombination, which is sometimes missed by conventional karyotyping,…
View article: Establishment of human-embryonic-stem-cell line from mosaic trisomy 9 embryo
Establishment of human-embryonic-stem-cell line from mosaic trisomy 9 embryo Open
Our study showed that chromosomally aberrant embryos could generate a normal hESC line, which would be useful in investigating gene function and embryo development.