Track topics on Twitter Track topics that are important to you
Neural tube defects (NTDs) are one of the most common congenital anomalies caused by a complex interaction of many genetic and environmental factors. In about 10% of cases, NTDs are associated with genetic syndromes or chromosomal anomalies. Among these, SOX3 duplication has been reported in some isolated cases. The phenotype associated with this microduplication is variable and includes myelomeningocele (MMC) in both sexes as well as hypopituitarism and cognitive impairment in males. In order to determine the prevalence of this anomaly in fetuses with MMC, a retrospective cohort of fetuses with MMC was analyzed by qPCR targeting SOX3 locus.
This article was published in the following journal.
Name: Prenatal diagnosis
This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better con...
To determine if fetal brain imaging in fetuses that underwent prenatal repair of neural tube defect (NTD) can predict the need for postnatal hydrocephalus treatment (HT) in the first year postpartum.
Hypertrophic cardiomyopathy (HCM) is a significant clinical problem associated with sudden death. HCM is very rare in fetuses with a poor outcome. Only isolated cases have been reported, for example, ...
This paper defends and develops Elizabeth Harman's Actual Future Principle with a concept called Schrödinger's Fetus. I argue that all early fetuses are Schrödinger's Fetuses: those early fetuses th...
Gene duplication is one of the major mechanisms of molecular evolution. Gene duplication enables copies of a gene to accumulate mutations through functional redundancy. If a gene encodes a specific pr...
The purpose of this study is to investigate the effect of TAK-935 (OV935) on the frequency of motor seizures for participants with 15q duplication syndrome or CDKL5 deficiency disorder thr...
Neural therapy is a regulation therapy that tries to correct this underlying autonomic dysfunction. In neural therapy; local painful areas, trigger points and symptomatic segments are incl...
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...
Ultrasound Monitoring of Fetuses With Vascular Intra-uterine Growth Restriction (IUGR) Using the Isthmus Systolic Index (ISI): Feasibility, Comparison to Normal Fetuses and Association With Perinatal Mortality
Fetuses with IUGR, there is a correlation between Doppler indices of cardiovascular function and perinatal mortality. An index of systolic flow velocities at the aortic isthmus (ISI) has p...
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for pati...
Processes occurring in various organisms by which new genes arise, i.e. the duplication of a single gene. In contiguous gene duplication, the duplicated sequence coexists within the boundaries set by the start and stop signals for protein synthesis of the original, resulting in a larger transcription product and protein at the expense of the preexisting protein. In discrete gene duplication, the duplicated sequence is outside the start and stop signals, resulting in two independent genes (GENES, DUPLICATE) and gene products. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
An early embryonic developmental process of CHORDATES that is characterized by morphogenic movements of ECTODERM resulting in the formation of the NEURAL PLATE; the NEURAL CREST; and the NEURAL TUBE. Improper closure of the NEURAL GROOVE results in congenital NEURAL TUBE DEFECTS.
Selective abortion of one or more embryos or fetuses in a multiple gestation pregnancy. The usual goal is to improve the outcome for the remaining embryos or fetuses.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...