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To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).
This article was published in the following journal.
Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Chromosome damage is a very important indicator of genetic damage relevant to environmental and clinical studies. Detailed descriptions of the protocols used for detection of chromosomal aberrations i...
Placental mosaicism for a subset of a chromosome, a structural chromosomal aberration, is thought to be a very rare finding in chorionic villus samples. Here, we present clinical and laboratory data o...
A cytological map of Haynaldia villosa chromosome arm 4VS was constructed to facilitate the identification and utilization of beneficial genes on 4VS. Induction of wheat-alien chromosomal structure ab...
Acute Lymphoblastic Leukemia (ALL) is a malignancy of the immature lymphoid cells mainly associated with numerical and structural chromosomal aberrations. The current standard for profiling the divers...
This study aimed to explore the relationships between urinary anomalies and CNVs in fetuses and provide information for prenatal diagnosis and genetic counseling for parents.
This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformativ...
A pioneer study demonstrated a proof of concept for IS-FISH with the new ISX technology. This state of the art technology has been recently acquired by the CHU of Amiens. In the present st...
Refractive surgeries can be divided into two distinct categories: 1) corneal surgeries (superficial and deep procedures) carried on the surface of the eye and 2) lens surgeries (phakic IOL...
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
Conventional cytogenetics has been the gold standard for chromosomal analysis in prenatal diagnosis. It allows a microscopic examination for any structural abnormalities of chromosome with...
Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12.
The component of the personality associated with ethics, standards, and self-criticism - the "conscience". It is derived mainly from identification with parents and parent substitutes.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
A dithiocarbamate chemical, used commercially in the rubber processing industry and as a fungicide. In vivo studies indicate that it inactivates the enzyme GLUTATHIONE REDUCTASE. It has mutagenic activity and may induce chromosomal aberrations.
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...