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Severe hyperlipidaemia suggestive of monogenic disorders of lipoprotein metabolism was likely to be present in a small proportion but was not specifically considered in the notes.
Considering that the prenatal diagnosis of monogenic disorders is still performed in a family-based setting in which a genetically confirmed proband or carrier has been identified, this method has a practical advantage that proband diagnosis, carrier detection, and noninvasive prenatal diagnosis can be accomplished efficiently with a single platform.
In addition, while the genetic conditions detected through current newborn screening programs are monogenic disorders, newborn screening may evolve to include screening for some disorders that have a multifactorial mode of determination, although screening for selected multifactorially determined conditions is controversial at the present time.
The causative genes of some monogenic disorders, such as disseminated superficial actinic porokeratosis,[sup][5] have been found by linkage analysis combined with whole exome sequencing, but we did not find the mutation of these disease-causing genes in some families or sporadic patients, indicating that there may be other causative genes.
beta]-Thalassemia (OMIM 613985) is a group of autosomal recessive monogenic disorders caused by mutations in the [beta]-globin genes (7).
We are hoping to work with BGI in larger projects that involve other genetic disorders, especially Cancer genetics, monogenic disorders and Thalassemia which has a very high incidence in the region.
Inherited dilated cardiomyopathies (DCM) are monogenic disorders caused by mutations in more than 30 genes, characterised by substantial phenotype heterogeneity.
Molecular characterization of rare monogenic disorders like MDM in the inbred Pakistani population could be the best strategy to control affected births through carrier screening, genetic counseling and prenatal diagnosis.
Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes.
After the successful implementation of noninvasive prenatal testing (NIPT) [4] for common chromosome disorders (6, 7) and promising reports for clinically significant copy number variations (8-10), one of the obvious extensions to the technology is reliable and accurate testing for monogenic disorders (11).
The Thalassemias are common monogenic disorders of hemoglobin synthesis.