نتایج جستجو برای: mendelian
تعداد نتایج: 7468 فیلتر نتایج به سال:
Most Mendelian diseases studied to date arise from mutations that lead to a single amino acid change in an encoded protein. An increasing number of complex diseases have also been associated with amino acid-changing single-nucleotide polymorphisms (coding SNPs, cSNPs), suggesting potential similarities between Mendelian and complex diseases at the molecular level. Here, we use two different evo...
Oligogenic inheritance implies a role for several genetic factors in disease etiology. We studied oligogenic inheritance in Parkinson's (PD) by assessing the potential burden of additional rare variants in established Mendelian genes and/or GBA, in individuals with and without a primary pathogenic genetic cause in two large independent cohorts totaling 7,900 PD cases and 6,166 controls. An exce...
bacillus calmette guerin (bcg) developed by albert calmette and camille guerin in france between 1908 and 1921 contained a live attenuated strain of mycobacterium bovis and was administered worldwide to prevent tuberculosis. bcg vaccination is also administered at birth to all the newborns in iran. disseminated bcg infection after bcg vaccination is rare. here in, we report 2 new cases of disse...
"Mendelian randomization" refers to the random assortment of genes transferred from parent to offspring at the time of gamete formation. This process has been compared to a randomized controlled trial of genetic variants. This could greatly aid observational epidemiology by potentially allowing an unbiased estimate of the effects of gene products on disease outcomes. However, studies utilizing ...
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