monogenic disease


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Synonyms for monogenic disease

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By this approach, the percentage of the mutant alleles in the original plasma sample collected from a pregnant woman at risk for a child with a monogenic disease can be quantified, and by applying simple Mendelian inheritance laws, fetal genotypes can be deduced (see online Supplemental Table 3).
In addition, the example described here of an array for diagnosis of FH raises the possibility of developing a similar strategy for the diagnosis of many monogenic diseases.
This is especially important in terms of rare monogenic diseases (hereditary autoinflammatory diseases), which constitute a part of inflammation-based diseases that occur in childhood.
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma.
It has been estimated that approximately 7% of world population have different hereditary disorders of hemoglobin, as one of the most common monogenic diseases (WEATHERALL, 2001).
French researchers at the Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (I-Stem--Inserm/AFM/UEVE) here, in collaboration with CNRS and Paris Descartes University, have developed a way to better control the differentiation of human pluripotcnt stem cells, and thus produce different populations of motor neurons from these cells in only 14 days.
French researchers at the Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (1-Stem--Inserm/AFM/UEVE) here, in collaboration with CNRS and Paris Descartes University, have developed a way to better control the differentiation of human pluripotent stem cells, and thus produce different populations of motor neurons from these cells in only 14 days.
French researchers at the Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (I-Stem - Inserm/AFM/UEVE) here, in collaboration with CNRS and Paris Descartes University, have developed a way to better control the differentiation of human pluripotent stem cells, and thus produce different populations of motor neurons from these cells, in only 14 days.
The reason this is relevant for Qatar is that the structure of the society encourages a high degree of consanguineous marriage, so the frequency of these monogenic diseases is quite high.
We believe the human gene connectome will provide a shortcut in the search for disease-causing mutations in monogenic diseases," said Itan.
A broad spectrum of both monogenic diseases such as Duchenne's muscular dystrophy and Huntington's disease, as well as complex adult-onset diseases (e.
One estimate is that more than 5,000 distinct, monogenic diseases have been clinically described; however, the gene is known in only about 2,500 diseases to date.
For monogenic diseases, current linkage methods are now efficient in identifying mutant genes, depending mostly on the total amount of family structures and DNA samples available.
However studies of monogenic diseases have helped to unravel the molecular pathways that regulate cholesterol metabolism, resulting in the development of HMG-CoA-reductase inhibitors (16).