Materias dentro de su búsqueda.
Mostrando 301 - 320 Resultados de 1,294 Para Buscar '"Ashkenazí"', tiempo de consulta: 0.22s Limitar resultados
  1. 301
    “…Gaucher and other lysosomal diseases occur with high frequency in Ashkenazi Jews. It has been proposed that the underlying mutations confer a selective advantage, in particular conferring protection against tuberculosis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Gaucher disease protects against tuberculosis
  2. 302
    Publicado 2005
    Electrónico eBook
    Estudio histórico demográfico de la migración judía a México 1900-1950
  3. 303
    “…Here we report on our study of 453 Ashkenazi breast cancer patients of whom 180 were positive for the known Ashkenazi BRCA1/2 mutations METHODS: DNA from breast cancer patients was obtained for analysis of one of the three common BRCA1/2 mutations and MDM2 SNP309. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Effects of the single nucleotide polymorphism at MDM2 309 on breast cancer patients with/without BRCA1/2 mutations
  4. 304
    “…Three mutations in these two genes (185delAG and 5382InsC (BRCA1) and 6174delT (BRCA2) occur in about 2.5% of the general Ashkenazi population, and the 185delAG BRCA1 mutation, in up to 1% of non-Ashkenazi Jews. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel
  5. 305
    “…Risk analyses were conducted using Cox proportional hazard models adjusted for origin (Ashkenazi vs non-Ashkenazi). We found an estimated BC HR of 0.89 (95% CI 0.65–1.12, P=0.25) and 1.11 (95% CI 0.81–1.52, P=0.53) for the null alleles of GSTM1 and GSTT1, respectively. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Glutathione-S-transferase M1, T1 and P1 polymorphisms, and breast cancer risk, in BRCA1/2 mutation carriers
  6. 306
    “…There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls. CONCLUSION: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Frequency of CHEK2*1100delC in New York breast cancer cases and controls
  7. 307
    “…Samples were from unrelated Ashkenazi individuals, non-carriers of LRRK2 G2019S or GBA founder mutations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease
  8. 308
    “…She was diagnosed by whole exome sequencing with the common Ashkenazi Jewish, homozygous p.K42E variants in DHDDS. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
  9. 309
    “…The estimated BC hazard ratio (HR) for RAD51-135c carriers adjusted for origin (Ashkenazi vs non-Ashkenazi) was 1.28 (95% CI 0.85–1.90, P=0.23) for BRCA1/2 carriers, and 2.09 (95% CI 1.04–4.18, P=0.04) when the analysis was restricted to BRCA2 carriers. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers
  10. 310
    “…Because exceptional longevity in humans is familial, it is likely that polymorphisms in genes favorably influence certain phenotypes and increase the likelihood of exceptional longevity. A group of Ashkenazi Jewish centenarians ( n = 213), their offspring ( n = 216), and an age-matched Ashkenazi control group ( n = 258) were genotyped for 66 polymorphisms in 36 candidate genes related to cardiovascular disease (CVD). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Lipoprotein Genotype and Conserved Pathway for Exceptional Longevity in Humans
  11. 311
    “…To gain insight into the molecular mechanisms involved in the inherited predisposition to melanoma and associated neural system tumours, 42 Jewish, mainly Ashkenazi, melanoma families with or without neural system tumours were genotyped for germline point mutations and genomic deletions at the CDKN2A/ARF and CDK4 loci. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours
  12. 312
    “…RESULTS: We have analyzed the mitochondrial DNA (mtDNA) genetic variability in Ashkenazi (Ash), Sephardic (Seph) and North African (NAF) Jewish populations (total n = 1179). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications
  13. 313
    “…RESULTS: The observed one-copy genotype frequency was 1 in 37 (2.7%) in Caucasian, 1 in 46 (2.2%) in Ashkenazi Jew, 1 in 56 (1.8%) in Asian, 1 in 91 (1.1%) in African American, and 1 in 125 (0.8%) in Hispanic specimens. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Differences in SMN1 allele frequencies among ethnic groups within North America
  14. 314
    “…RESULTS: Using 32 autosomal STR markers and the program STRUCTURE, we differentiated between Ashkenazi (AJ, N = 135) and non-Ashkenazi (NAJ, N = 226) Jewish populations in the form of Northern and Southern geographic genetic components (AJ north 73%, south 23%, NAJ north 33%, south 60%). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Identification of population substructure among Jews using STR markers and dependence on reference populations included
  15. 315
    “…In genome sequences of 44 Ashkenazi centenarians, we identified many coding variants that were annotated as “pathogenic” or “likely pathogenic” based on the ClinVar database. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Disease variants in genomes of 44 centenarians
  16. 316
    “…RESULTS: VUS patients were more likely to be non-Caucasian (p=0.000) and of Ashkenazi-Jewish descent (p=0.000). There was no difference in gynecologic oncology referrals or recommendations to screen or undergo risk-reducing surgery for VUS vs. negative patients. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The influence of BRCA variants of unknown significance on cancer risk management decision-making
  17. 317
    “…This case series describes 4 homozygous p.I1307K patients of Ashkenazi Jewish ancestry identified in cancer genetics clinics. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Homozygous Germline APC p.I1307K Variants: A Case Series
  18. 318
    “…Compared with NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics, whereas CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all 2-sided P < .05). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer
  19. 319
    Publicado 2018
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Omalizumab in allergic bronchopulmonary aspergillosis in patients with cystic fibrosis [Erratum]
  20. 320
    “…RESULTS: We employed massively parallel sequencing technology to identify miRNAs expressed in B-cells from Ashkenazi Jewish centenarians, i.e., those living to a hundred and a human model of exceptional longevity, and younger controls without a family history of longevity. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Comprehensive microRNA profiling in B-cells of human centenarians by massively parallel sequencing
Herramientas de búsqueda: RSS