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  1. 1001
    por Shapiro, E
    Publicado 2023
    “…METHODS: U.S. Orthodox Jewish communities across seven states were surveyed using a convenience sample. …”
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    Orthodox Jews and factors affecting COVID-19 vaccination: Lessons learned for public health
  2. 1002
    “…In that study, we genotyped 205 paraffin-embedded breast cancers from Ashkenazi Jewish women diagnosed below the age of 65. We now present an extended analysis, with clinicopathological correlations between carriers of I1307K and non-carriers. …”
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    The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of breast cancer
  3. 1003
    “…CONCLUSION: In contrast to the previous study on Ashkenazi Jewish Caucasians, DLBCL in pre-menopausal women of central European Caucasian ethnicity was not associated with SNP309 G. …”
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    MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians
  4. 1004
    “…RESULTS: The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia. The R545Q variant was found in two Asian individuals with primary open-angle glaucoma; one of Filipino ancestry and one of Korean ancestry. …”
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    Variation in optineurin (OPTN) allele frequencies between and within populations
  5. 1005
    por Desir, Julie, Abramowicz, Marc
    Publicado 2008
    “…To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. …”
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    Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
  6. 1006
    “…Various statistical models taking into account the regional effect of Jewish ethnicity, aboriginal ancestry, material deprivation, prescription for oral contraceptives, reportable enteric infection incidence, smoking as well as latitude and longitude locations were fitted. …”
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    Geographical variation of Crohn's disease residual incidence in the Province of Quebec, Canada
  7. 1007
    “…METHODS: We retrospectively identified all patients with candidemia on or before hospital day 14 and requiring an ICU stay at Barnes-Jewish Hospital between 2004 and 2007. Hospital length of stay following culture-proven onset of CBSI (post-CBSI HLOS) was primary and hospital costs secondary endpoints. …”
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    Inappropriate empiric antifungal therapy for candidemia in the ICU and hospital resource utilization: a retrospective cohort study
  8. 1008
    “…Individuals from two different populations were studied, one Caucasian-dominated and the other of Ashkenazi Jewish descent, with different sources of non-tumoral genetic material in each. …”
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    No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations
  9. 1009
    “…BACKGROUND: Classic Kaposi's sarcoma (CKS) is a rare disease likely associated with human herpes virus 8 (HHV-8) infection, and occurs predominantly in Jewish, Mediterranean and middle eastern men .There is a dearth of data in Moroccan patients with CKS regarding epidemiology, clinical characteristics and outcomes. …”
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    Classic Kaposi's sarcoma in morocco: clinico -epidemiological study at the national institute of oncology
  10. 1010
    “…Whole exome sequencing (WES) in an Ashkenazi Jewish Israeli RP patient revealed a novel homozygous HGSNAT variant, c.370A>T, which leads to partial skipping of exon 3. …”
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    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
  11. 1011
    “…To investigate the utility of a multi-disease NGS based genetic test, we designed a custom sequencing assay targeting over thirty disease-associated areas including cardiac disorders, intellectual disabilities, hearing loss, collagenopathies, muscular dystrophy, Ashkenazi Jewish genetic disorders, and complex Mendelian disorders. …”
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    Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants
  12. 1012
    “…All patients on ECMO who received ketamine infusions in addition to sedative and/or opioid infusions between December 2013 and October 2014 at Barnes-Jewish Hospital in St. Louis were retrospectively identified. …”
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    Ketamine infusion for patients receiving extracorporeal membrane oxygenation support: a case series
  13. 1013
    “…The prevalence of MS is high in European populations including those of Ashkenazi origin, and low in African and Asian populations including those of Jewish origin. METHODS: Here we identified and extracted a total of 213 Ashkenazi MS cases and 546 ethnically matched healthy control individuals from two previous genome-wide case-control association analyses, and 72 trios (affected proband and two unaffected parents) from a previous genome-wide transmission disequilibrium association study, using genetic data to define Ashkenazi. …”
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    Genetic contribution to multiple sclerosis risk among Ashkenazi Jews
  14. 1014
    “…Predictors of membership in classes with substantial CAM use included younger age, more education, higher income, Jewish religion, ideal body mass index, higher fruit and vegetable intake, higher levels of physical activity, receipt of adjuvant chemotherapy, and prior use of oral contraceptives. …”
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    Latent class analysis suggests four distinct classes of complementary medicine users among women with breast cancer
  15. 1015
    “…PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. METHODS: Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potential (VEP). …”
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    An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy
  16. 1016
    “…However, most published data are for North American, British and Jewish populations. There have been very few studies on treatment outcomes in Central and Eastern European patients with OC. …”
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    Prognostic factors in Polish patients with BRCA1-dependent ovarian cancer
  17. 1017
    “…Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ) families. All five patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. …”
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    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
  18. 1018
    “…Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline BRCA1/2 variants was unsuccessful, except for the Jewish founder mutations. A high-throughput method to systematically test for variants in all coding regions of BRCA1/2 in archival FFPE samples of non-tumor tissue is described, using HaloPlex target enrichment and next-generation sequencing. …”
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    Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling
  19. 1019
    “…We analyzed the clinical and molecular phenotype of two unrelated families of Jewish Moroccan ancestry that presented with apparently autosomal dominant inheritance of progressive Laing-like distal myopathy with non-specific myopathic changes, but uncommon marked contractures and wasting of the neck extensors. …”
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    Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
  20. 1020
    “…In the present survey the f component is higher than in the past, especially in the Jewish sector where it is the main component. It is still lower in the Arab sector. …”
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    Does dental health of 6-year-olds reflect the reform of the Israeli dental care system?
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