نتایج جستجو برای: mutation analysis
تعداد نتایج: 3045422 فیلتر نتایج به سال:
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...
Serious concerns have been expressed about potential health risks of Nano silver containing consumer products (AgNPs) therefore regulatory health risk assessment on such nanoparticles has become mandatory for the safe use of AgNPsinbiomedicalproducts with special concerns to the mutagenic potentials. In this study, we examined the inhibitory and mutagenicity effects of AgNPs in three different ...
Background: Sulfur mustard (SM) is a chemical blistering warfare that affects different organs especially hematopoietic system. Prevalence of acute myeloblastic and lymphoblastic leukemia is increased by sulfur mustard exposure. FLT3-ITD mutation can be effective on leukemogenesis. Therefore, the aim of this study was to verify the frequency of FLT3-ITD mutation in the patients who exposed to S...
Background Ghezel sheep are highly prolific and one of the local sheep breeds in Iran and Turkey. Growth differentiation factor-9 (GDF9) gene has been found to be essential for growth and differentiation of early ovarian follicles. Novel mutations in GDF9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. Therefore, fecundity gene for GDF9 (FecGH...
Introduction: Mucopolysaccharidosis I (MPS-I) is an autosomal recessive lysosomal storage diseases, caused by α-L-iduronidase (IDUA) enzyme deficiency. The clinical manifestations of MPS-I patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. From when IDUA gene has been cloned more than 109 distinct mutations have been identified in it an...
Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...
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