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Mostrando 1 - 20 Resultados de 1,294 Para Buscar '"Ashkenazí"', tiempo de consulta: 0.40s Limitar resultados
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    Carrier screening in individuals of Ashkenazi Jewish descent
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    “…RESULTS: Here, we describe the assembly and annotation of the genome of an Ashkenazi individual and the creation of a new, population-specific human reference genome. …”
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    Assembly and annotation of an Ashkenazi human reference genome
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    “…Our objective was to evaluate the differences in disease phenotype between Ashkenazi Jewish and Non-Ashkenazi Jewish patients in Israel. …”
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    Differences in MS clinical and epidemiological characteristics between Ashkenazi and non-Ashkenazi Jewish patients in Israel: a retrospective single center study
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    “…The distribution of these variants (BRCA1 vs. BRCA2) in Ashkenazi men with prostate cancer is not clear. This systematic review and meta-analysis indicates that germline BRCA1 variants are higher in the Ashkenazi Jewish ethnicity in comparison to non-Ashkenazi men. …”
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    Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis
  5. 5
    “…These data were combined with data from 1241 additional Ashkenazi controls and tested for association with prostate cancer. …”
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    Genetic architecture of prostate cancer in the Ashkenazi Jewish population
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    “…Ashkenazi Jewish ancestry, defined by the first principal component of PCA, was associated with higher adjusted PMD (P = 0.004). …”
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    High mammographic density in women of Ashkenazi Jewish descent
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    “…The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. …”
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    The time and place of European admixture in Ashkenazi Jewish history
  8. 8
    “…We genotyped more than 1,300 Ashkenazi Jewish healthy volunteers from the Hebrew University Genetic Resource with the Illumina HumanOmni1-Quad platform. …”
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    Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
  9. 9
    “…We compared the pattern of genetic risk between Ashkenazi and non-Ashkenazi Europeans. We also sought to identify novel Ashkenazi-specific risk loci by performing association tests on the subset of Ashkenazi cases, controls, probands, and parents from each study. …”
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    Genetic contribution to multiple sclerosis risk among Ashkenazi Jews
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    “…BACKGROUND: Genetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. …”
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    Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping
  11. 11
    “…METHODOLOGY/PRINCIPAL FINDINGS: We have evaluated haplogroup frequencies among Ashkenazi Jewish centenarians using two different sets of matched controls. …”
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    Ashkenazi Jewish Centenarians Do Not Demonstrate Enrichment in Mitochondrial Haplogroup J
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    “…The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. …”
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    A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages
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    “…BACKGROUND & AIMS: Crohn’s disease (CD) is a highly heritable disease that is particularly common in the Ashkenazi Jewish population. We studied 2 large Ashkenazi Jewish families with a high prevalence of CD in an attempt to identify novel genetic risk variants. …”
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    Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families
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    por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
    Publicado 2018
    “…We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0.2% are significantly more frequent (mean 15-fold) than their maximum frequency observed in other reference populations. …”
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    Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
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    “…BACKGROUND: Individuals with a family history of cancer may be at increased risk of pancreatic cancer. Ashkenazi Jewish (AJ) individuals carry increased risk for pancreatic cancer and other cancer types. …”
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    Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk
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    “…BACKGROUND: Several founder mutations leading to increased risk of cancer among Ashkenazi Jewish individuals have been identified, and some estimates of the age of the mutations have been published. …”
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    How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
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    “…We describe an Ashkenazi Jewish patient who illustrates that current testing criteria are too restrictive, particularly for this population of patients. …”
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    Case report: BRCA in the Ashkenazi population: are current testing guidelines too exclusive?
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    “…Population substructure of E1b1b1c carriers suggested Ashkenazi Jewish ancestry, prompting a replication phase in individuals of both European and Ashkenazi Jewish ancestry. …”
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    Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry
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    “…On multivariate analysis, Jewish Ashkenazi ethnicity was protective against both development of ATI (odds ratio [OR] 0.35, 95% confidence interval [CI] 0.17–0.7, P = 0.005) and treatment failure (OR 0.29, 95% CI 0.13–0.66, P = 0.003). …”
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    Ashkenazi Jewish Origin Protects Against Formation of Antibodies to Infliximab and Therapy Failure
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    “…PURPOSE: Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. …”
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    Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
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