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Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes. It is characterized by early onset, autosomal dominant inheritance and a defect in pancreatic β-cell insulin secretion. To date, various MODY subtypes have been reported, each one of a distinct genetic etiology.
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Name: Pediatric diabetes
Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In ...
The diagnostic utility of somatic mutations in the context of cytopenias is unclear: clonal hematopoiesis can be found in healthy individuals, patients with aplastic anemia (AA), clonal cytopenia of u...
Next generation sequencing (NGS) methods to diagnose maturity-onset diabetes of the young (MODY), a monogenic autosomal dominant cause of diabetes, do not typically detect large-scale copy number vari...
Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a challenge for diagnostic work-up for ataxia patients in a clinically relevant time and precision. In the present...
Next generation sequencing has provided great advancements in genetic diagnosis of Mendalian disorders. Simultaneous sequencing of many genes has become increasingly cheaper and faster. Recently, a nu...
Currently, publicly funded standard of care testing in Ontario for stage IV lung cancer patients uses individual gene tests to look for mutations in the EGFR and ALK genes. This testing br...
The study aims to investigate the validity of 2 hour post-prandial UCPCR test in paediatric and adult patients with diabetes duration greater than 2 and 5 years, respectively, for the purp...
This is a 2 strata pilot trial within the Pacific Pediatric Neuro-Oncology Consortium (PNOC). The study will use a new treatment approach based on each patient's tumor gene expression, wh...
The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of ta...
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, we would like to validate a rapid and targeted method of high-throughput sequen...
A historical and cultural entity dispersed across a wide geographical area under the influence of Greek civilization, culture, and science. The Greek Empire extended from the Greek mainland and the Aegean islands from the 16th century B.C., to the Indus Valley in the 4th century under Alexander the Great, and to southern Italy and Sicily. Greek medicine began with Homeric and Aesculapian medicine and continued unbroken to Hippocrates (480-355 B.C.). The classic period of Greek medicine was 460-136 B.C. and the Graeco-Roman period, 156 B.C.-576 A.D. (From A. Castiglioni, A History of Medicine, 2d ed; from F. H. Garrison, An Introduction to the History of Medicine, 4th ed)
Radiotherapy where cytotoxic radionuclides are linked to antibodies in order to deliver toxins directly to tumor targets. Therapy with targeted radiation rather than antibody-targeted toxins (IMMUNOTOXINS) has the advantage that adjacent tumor cells, which lack the appropriate antigenic determinants, can be destroyed by radiation cross-fire. Radioimmunotherapy is sometimes called targeted radiotherapy, but this latter term can also refer to radionuclides linked to non-immune molecules (see RADIOTHERAPY).
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
A technique which uses synthetic oligonucleotides to direct the cell's inherent DNA repair system to correct a mutation at a specific site in an episome or chromosome.
Direct nucleotide sequencing of gene fragments from multiple housekeeping genes for the purpose of phylogenetic analysis, organism identification, and typing of species, strain, serovar, or other distinguishable phylogenetic level.
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 ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...