نتایج جستجو برای: run of homozygosity
تعداد نتایج: 21168121 فیلتر نتایج به سال:
I T HAS BECOME clear in recent years that malignant clones often exhibit chromosome abnormalities, and that these acquired abnormalities are often highly specific for a particular type of tumor. Translocations, as well as deletions of entire chromosomes or of specific regions, are well-known findings in chronic myelogenous leukemia, meningioma, and retinoblastoma, for example. Disturbances of c...
Genome-wide association studies (GWASs) help to understand the effects of single nucleotide polymorphisms (SNPs) on breast cancer (BC) progression and survival. We performed multiple analyses on data from a previously conducted GWAS for the influence of individual SNPs, runs of homozygosity (ROHs) and inbreeding on BC survival. (I.) The association of individual SNPs indicated no differences in...
Identification of disease variants via homozygosity mapping and investigation of the effects of genome-wide homozygosity regions on traits of biomedical importance have been widely applied recently. Nonetheless, the existing methods and algorithms to identify long tracts of homozygosity (TOH) are not able to provide efficient and rigorous regions for further downstream association investigation...
Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been identified. Early onset PD (EOPD) is particularly associated with autosomal recessive (AR) mutations, and three genes, PARK2, PARK7 and PINK1, have been found to carry mutations leading to AR disease. Since mutations in these genes account for less than 10% of EOPD patie...
PURPOSE The Israeli and Palestinian populations are known to have a relatively high level of consanguineous marriages, leading to a relatively high frequency of autosomal recessive (AR) diseases. Our purpose was to use the homozygosity mapping approach, aiming to prioritize the set of genes and identify the molecular genetic causes underlying AR retinal degenerations in the Israeli and Palestin...
In this article, we developed a cross-population comparison test statistic to detect chromosome regions in which there is no significant excess homozygosity in one population but homozygosity remains high in the other. We treated an extended stretch of homozygosity as a surrogate indicator of a recent positive selection. Conditioned on existing linkage disequilibrium, we proposed to test the ha...
Familial Thrombophilia Associated With Homozygosity for the Cystathionine b-Synthase 833T3C Mutation
Severe hyperhomocysteinemia due to cystathionine b-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, '50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T3C mutation. These patients, who displayed no other known thrombophilic predis...
Severe hyperhomocysteinemia due to cystathionine b-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, '50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T3C mutation. These patients, who displayed no other known thrombophilic predis...
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