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Mostrando 61 - 80 Resultados de 1,294 Para Buscar '"Ashkenazí"', tiempo de consulta: 0.23s Limitar resultados
  1. 61
    “…Three BRCA1/2 founder variants — 185delAG (c.68_69delAG), 5382insC (c.5266dupC), and 6174delT (c.5946delT) — are common in the Ashkenazi Jewish population. We characterized a cohort of more than 2,800 research participants in the 23andMe database who carry one or more of the three Ashkenazi Jewish founder variants, evaluating two characteristics that are typically used to recommend individuals for BRCA testing: self-reported Jewish ancestry and family history of breast, ovarian, prostate, or pancreatic cancer. …”
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    Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry
  2. 62
    “…The purpose of this study was to determine the genetic cause underlying hearing loss in four Ashkenazi Jewish families. We screened probands from each family using a combination of targeted mutation screening and exome sequencing to identifiy the genetic cause of hearing loss in each family. …”
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    Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss
  3. 63
    “…We find that four of these individuals were closely related and all six have strong genetic affinities with modern Ashkenazi Jews. We identify four alleles associated with genetic disease in Ashkenazi Jewish populations and infer variation in pigmentation traits, including the presence of red hair. …”
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    Genomes from a medieval mass burial show Ashkenazi-associated hereditary diseases pre-date the 12th century
  4. 64
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    A missense mutation in both hMSH2 andAPC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening
  5. 65
    “…METHODS: In a randomized controlled trial of BRCA1/2 gene-mutation testing in the Ashkenazi Jewish (AJ) population, we compared testing all participants in the population screening (PS) arm with testing those fulfilling standard FH-based clinical criteria (FH arm). …”
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    Population Testing for Cancer Predisposing BRCA1/BRCA2 Mutations in the Ashkenazi-Jewish Community: A Randomized Controlled Trial
  6. 66
    “…The frequency is much higher (1 in 500 to 1000) in people of Ashkenazi Jewish heritage due to a founder effect. …”
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    Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening
  7. 67
    “…METHODS: Sixty-four extended Ashkenazi Jewish families were previously collected from New Jersey. …”
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    Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families
  8. 68
    “…Homozygous deletion of TRPM1 was the cause of CSNB in several children in 6 Ashkenazi Jewish families, thereby prompting further investigation of the carrier status within the families as well as in large cohorts of unrelated Ashkenazi and Sephardi individuals. …”
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    A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews
  9. 69
    “…Due to a founder effect, Ashkenazi Jewish individuals are at higher risk for carrying three specific BRCA1/2 pathogenic variants. …”
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    Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women
  10. 70
    “…We report genome-wide data from 33 Ashkenazi Jews (AJ), dated to the 14(th) century, obtained following a salvage excavation at the medieval Jewish cemetery of Erfurt, Germany. …”
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    Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14(th) century
  11. 71
    “…We analyzed the cost-effectiveness of population screening (PS) for BRCA mutations in Ashkenazi Jews (AJ), for whom carrier rate is 2.5%, compared with existing strategies: cascade testing (CT) in carrier’s relatives, and international family history (IFH)-based guidelines. …”
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    Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies
  12. 72
    “…PURPOSE: A previous genome-wide study in Orthodox Ashkenazi Jewish pedigrees showed significant linkage of ocular refraction to a Quantitative Trait Locus (QTL) on 1p34-36.1. …”
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    Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36
  13. 73
    “…INTRODUCTION: Ancestral mutations in BRCA1 and BRCA2 are common in people of Ashkenazi Jewish descent and are associated with a substantially increased risk of breast and ovarian cancer. …”
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    Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
  14. 74
    “…We tested for the BRCA1 185delAG frameshift mutation, found in 0.9% of Ashkenazi Jews, and the BRCA2 6174delT mutation, found in 1% of Ashkenazi Jews, in Ashkenazi Jewish men with prostate cancer. …”
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    Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer.
  15. 75
    “…Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. …”
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    Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
  16. 76
    “…The Ashkenazi Jewish population has a several-fold higher prevalence of Crohn’s disease compared to non-Jewish European ancestry populations and has a unique genetic history. …”
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    Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3
  17. 77
    “…This mutation is present in approximately 1% of the general Ashkenazi population and 4% of Ashkenazi breast cancer cases. …”
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    The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies
  18. 78
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    Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210
  19. 79
    por Ashkenazi, Michael
    Publicado 2016
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    What we know about extraterrestrial intelligence: foundations of xenology
  20. 80
    por Ashkenazi, Itamar, Olsha, Oded
    Publicado 2023
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    Authorship Disputes in Scholarly Biomedical Publications and Trust in the Research Institution
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