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To the Editor : Silver–Russell syndrome (SRS; OMIM 180860) is an imprinting disorder characterized by primordial growth retardation and a typical facial gestalt. Maternal uniparental disomy of chromosome 7 (upd(7)mat) is detectable in 7–10% of patients, and hypomethylation of the imprinting control region 1 (ICR1) in 11p15 accounts for up to 62%. On chromosome 7, two candidate genes have been s...
The mitochondrial and nuclear genomes coordinate and co-evolve in eukaryotes in order to adapt to environmental changes. Variation in the mitochondrial genome is capable of affecting expression of genes on the nuclear genome. Sex-specific mitochondrial genetic control of gene expression has been demonstrated in Drosophila melanogaster, where males were found to drive most of the total variation...
The Middle East Study Tour (MEST) is a capstone elective unit that stands alone as credit module towards an undergraduate degree. tour has the dual purposes of exposing students to region's political challenges and better illuminating potential career paths for life after university. But one student's personal discovery (or their ability express it in writing) more valuable than another's? Atta...
EDITOR—In approximately 10% of patients with SilverRussell syndrome, preand postnatal growth retardation with relative macrocephaly, triangular facies, and asymmetry is associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). The purpose of this report is to present a novel assay to diagnose UPD(7)mat by analysing the methylation status of PEG1/MEST, the only known imprinted gen...
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