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Mostrando 21 - 40 Resultados de 1,294 Para Buscar '"Ashkenazí"', tiempo de consulta: 0.58s Limitar resultados
  1. 21
    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 2019
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    Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
  2. 22
    “…OBJECTIVE: To explore the clinical impact of mutations in the GBA gene and APOE polymorphisms separately and in combination, in a cohort of Ashkenazi Jewish (AJ) patients with DLB. METHODS: One hundred consecutively recruited AJ patients with clinically diagnosed DLB underwent genotyping for GBA mutations and APOE polymorphisms, and performed cognitive and motor clinical assessments. …”
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    The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews
  3. 23
    por Ziff, Monica, Harris, Juliette
    Publicado 2021
    “…We present a unique model of a British genetic carrier screening programme for individuals with Ashkenazi Jewish ancestry that exemplifies a partnership between a publicly funded healthcare service (the NHS) and a charity, Jnetics. …”
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    A collaborative genetic carrier screening model for the British Ashkenazi Jewish community
  4. 24
    por Gilman, Sander L
    Publicado 1998
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    Crossing the Jabbok: illness and death in Ashkenazi Judaism in sixteenth- through nineteenth-century Prague
  5. 25
    “…PURPOSE: To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia. …”
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    A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
  6. 26
    “…Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our survey of one of these, M582, in 2,834 R1a samples reveals its absence in 922 Eastern Europeans, we show it is present in all sampled R1a Ashkenazi Levites, as well as in 33.8% of other R1a Ashkenazi Jewish males and 5.9% of 303 R1a Near Eastern males, where it shows considerably higher diversity. …”
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    Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites
  7. 27
    “…Here, we report the variation of 486 Y-chromosomes within the Ashkenazi and non-Ashkenazi Levite R1a clade, other Ashkenazi Jewish paternal lineages, as well as non-Levite Jewish and non-Jewish R1a samples. …”
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    The genetic variation in the R1a clade among the Ashkenazi Levites’ Y chromosome
  8. 28
    “…BACKGROUND AND AIMS: The inflammatory bowel diseases (IBD) are particularly common among the Ashkenazi Jewish (AJ) population. Population-specific estimates of familial risk are important for counseling; however, relatively small cohorts of AJ IBD patients have been analyzed for familial risk to date. …”
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    A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population
  9. 29
    “…OBJECTIVE: To assess whether or not the current American College of Obstetricians and Gynecologists (ACOG) recommendations regarding carrier screening are sufficiently robust in detecting mutations in the Ashkenazi Jewish (AJ) population. DESIGN: Cross-sectional study. …”
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    Beyond the “Jewish panel”: the importance of offering expanded carrier screening to the Ashkenazi Jewish population
  10. 30
    “…The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and plausible IBD-causing genes from the exomes of 4453 genetically identified Ashkenazi Jewish IBD cases (1734) and controls (2719). …”
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    Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
  11. 31
    “…BACKGROUND: Relatives of BRCA1 and BRCA2 mutation carriers have long been proposed by epidemiological studies to have an increased risk of developing prostate cancer. In the Ashkenazi Jewish (AJ) population, the existence of 3 frequent founder mutations, 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 greatly facilitates screening for carriers. …”
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    Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer
  12. 32
    “…METHODS: We have previously reported 2 genomewide linkage scans in a population of 63 highly aggregated Ashkenazi Jewish families that identified a locus on chromosome 22. …”
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    Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis
  13. 33
    “…METHODS: We applied a GWAS approach to a relatively homogeneous Ashkenazi Jewish (AJ) population from New York to search for both 'rare' and 'common' genetic variants that confer risk of PD by examining any SNPs with allele frequencies exceeding 2%. …”
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    Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
  14. 34
    “…An important epidemiological feature of CD is that it is 2–4 times more prevalent among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Europeans (NJ). …”
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    A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci
  15. 35
    “…BACKGROUND: Increased BRCA1 and BRCA2 germline mutation rates have been reported in Ashkenazi Jewish women in North America, Europe and Israel, and have been mentioned as possibly related to a higher incidence of breast and ovarian cancer among these communities. …”
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    Breast cancer mortality among Ashkenazi Jewish women in São Paulo and Porto Alegre, Brazil
  16. 36
    “…The existence of some eastern Eurasian haplotypes in eastern Ashkenazi Jews supports an East Asian genetic contribution, likely from Chinese. …”
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    A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road
  17. 37
    “…BACKGROUND: Historically, three founder mutations in the BRCA1/2 (OMIM 113705; OMIM 600185) genes have been the focus of cancer risks within the Ashkenazi Jewish (AJ) population. However, there are several additional mutations associated with increased susceptibility to cancer in individuals of AJ ancestry. …”
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    Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations
  18. 38
    “…Background: Individuals of Ashkenazi Jewish ancestry have been identified as having higher prevalence of specific pathogenic variants associated with susceptibility to specific rare and chronic diseases. …”
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    Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico
  19. 39
    “…To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). …”
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    The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients
  20. 40
    “…METHODS/PRINCIPAL FINDINGS: Logistic regression was used to study interactions among 4 SNPs, one each from HNF4A[rs1884613], TCF7L2[rs12255372], WFS1[rs10010131], and KCNJ11[rs5219] in a case-control Ashkenazi sample of 974 diabetic subjects and 896 controls. …”
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    Gene-Gene Interactions Lead to Higher Risk for Development of Type 2 Diabetes in an Ashkenazi Jewish Population
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