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  1. 9241
    “…The whole gene of P. vivax multidrug resistance 1 protein gene (pvmdr1) was amplified by nested-PCR techniques and the PCR amplification produce were sequenced by Sanger bidirectional sequencing. The mutant loci and haplotypes of coding DNA sequence (CDS) were identified by comparison with the reference sequence (NC_009915.1) of the P. vivax Sal I isolate. …”
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    Characteristics of molecular markers associated with chloroquine resistance in Plasmodium vivax strains from vivax malaria cases in Yunnan Province, China
  2. 9242
    “…The identification and localization of circular nuclear factor of activated T cells 3 (circNFATC3) were identified using Sanger sequencing, RNase R assays, qRT-PCR, nuclear-cytoplasmic fractionation and RNA-FISH assays. …”
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    CircNFATC3 promotes the proliferation of gastric cancer through binding to IGF2BP3 and restricting its ubiquitination to enhance CCND1 mRNA stability
  3. 9243
    por Chen, Miao, Tian, Buning, Hu, Gui, Guo, Yihang
    Publicado 2023
    “…As assessed by quantitative real-time PCR (qRT-PCR), circUHRF2 and methyltransferase-like 3 (METTL3) were highly expressed in CRC specimens and cells. Sanger sequencing and RNase R assays were performed to verify the ring structure of circUHRF2. …”
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    METTL3-Modulated circUHRF2 Promotes Colorectal Cancer Stemness and Metastasis through Increasing DDX27 mRNA Stability by Recruiting IGF2BP1
  4. 9244
    “…SUBJECTS AND METHODS: DNA from 40 randomly selected cases of CRC was extracted from formalin-fixed paraffin-embedded tissues and sequenced using direct Sanger sequencing techniques, and variants were annotated according to the recommendations of the Human Genome Variation Society. …”
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    TP53 mutations in Romanian patients with colorectal cancer
  5. 9245
    “…The structure, stability, and intracellular localization of circKIF20B were verified by Sanger sequencing, Ribonuclease R (RNase R)/actinomycin D (ACTD) treatments, and Fluorescence in situ hybridization (FISH). …”
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    Exosome-derived circKIF20B suppresses gefitinib resistance and cell proliferation in non-small cell lung cancer
  6. 9246
    “…Reverse transcription quantitative PCR analysis, SV prediction, and de novo assembly of pgl-sd genome revealed that a 137.8-kb deletion, which was verified by Sanger sequencing, might cause the pgl-sd phenotype. …”
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    A large deletion conferring pale green leaves of maize
  7. 9247
    “…Additional methods for confirmation of the variant included Sanger sequencing, phasing analysis, and splice site prediction. …”
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    Genetic screening in a Brazilian cohort with inborn errors of immunity
  8. 9248
    “…The NMRK2 transcripts were Sanger-sequenced and blasted at NCBI website. We constructed dCas13b-HA system to investigate the factors binding with NMRK2 RNA. …”
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    LncRNA like NMRK2 mRNA functions as a key molecular scaffold to enhance mitochondrial respiration of NONO-TFE3 rearranged renal cell carcinoma in an NAD(+) kinase-independent manner
  9. 9249
    “…Genetic studies: 1) Germline PPGL multigene panel: After consent, the patient underwent a panel of 14 susceptibility genes for PPGLs (INVITAE, CA, USA) that revealed no pathogenic variants. 2) Somatic genetic analysis for EPAS1 gene: PHEO DNA was extracted and exons 9, 12 and 16 of the EPAS1 gene were studied by Sanger Sequencing. No pathogenic variants were identified.Conclusion: We report a rare case of PHEO in a pulmonary transplant patient. …”
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    SAT332 Genetic Characterization Of A Case of Pheochromocytoma In A Pulmonary Transplant Patient
  10. 9250
    “…Only 2 of 4 CNVs and 10 of 18 pathogenic variants were confirmed by whole exome sequencing and Sanger sequencing respectively, due to funding limitations. …”
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    RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)
  11. 9251
    “…Since August 2019, we have offered a 16S ribosomal RNA gene PCR assay followed by Sanger or next generation sequencing, or reported as negative, depending on the PCR signal strength (e.g., crossing point) in clinical practice at Mayo Clinic. …”
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    553. Pleural Space Infection Microbiology as Assessed Using a Clinical Targeted Metagenomic Sequencing-Based Assay on Pleural Fluid, and Proposal of the Term, “FuSion” ( Fusobacterium nucleatum group, Streptococcus intermedius and oral normal microbiota) to Describe the Most Common Bacteria Identified in Community-Acquired Pleural Space Infections
  12. 9252
    “…Whenever possible, variants were validated with Sanger sequencing and family segregation studies. …”
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    Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
  13. 9253
    “…DNA was extracted from the confirmed cancer biopsies, followed by PCR using MY09/GP5+ /6+ primers to detect the presence of HPV and specific primers for the amplification of L1 gene and LCR. Sanger sequencing was carried out to determine HPV genotypes, and L1 and LCR sequences variant of HPV18s in CC and NPC biopsies. …”
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    HPV18 L1 and long control region sequences variation and E6/E7 differential expression in nasopharyngeal and cervical cancers: a comparative study
  14. 9254
    “…RESULTS: To investigate the genomic properties and taxonomic status of these strains, we employed both 16S rRNA Sanger sequencing and whole-genome sequencing using the Illumina HiSeq X Ten platform with PE151 (paired-end) sequencing. …”
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    Genome characterization and taxonomy of Actinomyces acetigenes sp. nov., and Actinomyces stomatis sp. nov., previously isolated from the human oral cavity
  15. 9255
    “…METHODS: We evaluated 200 Bulgarian women with primary invasive breast cancer and with personal/ family history of breast cancer for the presence of unequivocally damaging germline mutations in BRCA1/2 using Sanger sequencing. RESULTS: Of the 200 patients, 39 (19.5 %) carried a disease predisposing mutation, including 28 (14 %) with a BRCA1 mutation and 11 (5.5 %) with a BRCA2 mutation. …”
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    Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients
  16. 9256
    “…WES was performed using TruSeqExome enrichment, followed by variant prioritization, validation by Sanger sequencing, and segregation with the disease phenotype in the family. …”
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    New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
  17. 9257
    “…Benign or tolerated amino acid changes were excluded after analysis using sorting intolerant from tolerant and polymorphism phenotyping. Sanger sequencing was used to validate the significant variants identified by NGS. …”
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    Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population
  18. 9258
    “…Proposed pathogenic variants were confirmed by Sanger sequencing or array comparative genomic hybridization. …”
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    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
  19. 9259
    por Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M
    Publicado 2016
    “…The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. …”
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    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
  20. 9260
    “…All available HPeV CSF, blood, and superficial site specimens were typed by PCR or Sanger sequencing (types assigned per GenBank®). RESULTS: Of 1,265 patients tested, 131 (10%) were positive for HPeV in at least one site, of which 100 had available isolates for genotyping. …”
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    Prevalence, Genotypes, Clinical Manifestations and Outcomes Associated with Human Parechovirus (HPeV) Infections in Infants up to 2 Months old in Central Ohio
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