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  1. 8801
    “…Finally, cytogenetic characteristics were analysed via RT-PCR and Sanger sequencing. Consequently, nine out of thirteen cases that were histologically highly suspected as SS were finally identified as SS via molecular analysis. …”
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    Novel characteristics for immunophenotype, FISH pattern and molecular cytogenetics in synovial sarcoma
  2. 8802
    “…Large copy number variants (CNVs) in the exon regions of the DMD gene were verified through MLPA, and small variations (such as single nucleotide variation and < 50 bp fragment insertions/deletions) were validated using Sanger sequencing. RESULTS: Among the 51 patients, 49 (96.1% [49/51]) had pathogenic or likely pathogenic variants in the DMD gene. …”
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    NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China
  3. 8803
    “…Trophectoderm biopsy and multiple displacement amplification (MDA) were performed for a total of nine blastocysts. NGS and Sanger sequencing were performed in genomic DNA of family members and embryonic MDA products to detect DMD deletion and TSC1 mutation, respectively. …”
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    Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
  4. 8804
    “…The characteristics of circSH3PXD2A were detected by Sanger sequencing, RNase R assay, nuclear-cytoplasmic fraction assay, and fluorescence in situ hybridization assay. …”
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    Extracellular Vesicles Derived circSH3PXD2A Inhibits Chemoresistance of Small Cell Lung Cancer by miR-375-3p/YAP1
  5. 8805
    “…DNA was extracted from whole blood, followed by gene amplification and Sanger’s sequencing. Most of the patients, 77: 53.8%, were serious. …”
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    Angiotensin-converting enzyme 2 (ACE2) polymorphisms and susceptibility of severe SARS-CoV-2 in a subset of Pakistani population
  6. 8806
    “…We developed and validated a strategy to detect FGF14 GAA repeat expansions using long-range PCR, bidirectional repeat-primed PCRs, and Sanger sequencing. We compared this strategy to targeted nanopore sequencing in a cohort of 22 French Canadian patients and next validated it in a cohort of 53 French index patients with unsolved ataxia. …”
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    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
  7. 8807
    “…METHODS: A hospital-based case-control study involving 302 kidney stone patients and 408 controls without kidney stone from southern China was conducted. Sanger sequencing was used to genotype the MMP-9-1562C>T polymorphism. …”
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    A functional MMP-9-1562C>T polymorphism, MMP-9 serum levels and nephrolithiasis risk in a southern Chinese population
  8. 8808
    “…METHODS: MALDI-TOF MS was used for species identification. PCR and Sanger sequencing analysis were used to identify resistance genes. …”
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    Coexistence of bla(IMP-4), bla(NDM-1) and bla(OXA-1) in bla(KPC-2)-producing Citrobacter freundii of clinical origin in China
  9. 8809
    “…MtDNA sequencing was also performed from the muscle biopsy material in one patient. For segregation, Sanger sequencing is performed for pathogenic alterations in five other affected family members and healthy parents. …”
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    Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
  10. 8810
    “…Select amplicons were sanger sequenced and evolutionary relationships inferred from global reference sequences using a ML approach. …”
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    copLAB gene prevalence and diversity among Trinidadian Xanthomonas spp. black-rot lesion isolates with variable copper resistance profiles
  11. 8811
    “…BCL11A protein expression has been analyzed by immunohistochemistry (IHC) and its mutational status by Sanger sequencing. RESULTS: In our study, BCL11A was significantly overexpressed in TNBC both at transcriptional and translational levels compared to other BC molecular subtypes. …”
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    Deciphering clinical significance of BCL11A isoforms and protein expression roles in triple-negative breast cancer subtype
  12. 8812
    “…Other genetic tests ordered were sanger sequencing, gene panel, multiplex ligation-dependent probe amplification and karyotyping. …”
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    Clinical utility of genetic testing in Indian children with kidney diseases
  13. 8813
    “…Detection and identification of Cryptosporidium spp., Giardia duodenalis, Enterocytozoon bieneusi, and Blastocystis sp. were carried out by PCR and Sanger sequencing. Basic epidemiological variables (geographical origin, sex, age, and breed) were examined for association with occurrence of infection by enteric protists. …”
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    Molecular characteristics and zoonotic potential of enteric protists in domestic dogs and cats in Egypt
  14. 8814
    “…As a result, genome-wide surveys of ADAR editome must still be accompanied by extensive Sanger validation efforts. However, given the vast number of unknown human ADAR sites, there is a need for further developments of the analytical techniques, potentially those that are based on deep learning solutions, in order to provide a quick and reliable identification of the editome in any sample. …”
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    Lessons from discovery of true ADAR RNA editing sites in a human cell line
  15. 8815
    “…Flow cytometry was employed to assess the capacity of NADPH oxidase, measuring both H(2)O(2) production and gp91(phox) protein expression in neutrophils. Additionally, DNA Sanger sequencing was performed for genetic analysis. …”
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    Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients
  16. 8816
    “…The most common testing methods were Sanger sequencing for EGFR (244, 37%), FISH (fluorescence in situ hybridization) for ALK (464, 75%) and ROS1 (357, 76%), immunohistochemical assay for PD-L1 (450, 90%), and next-generation sequencing testing for other biomarkers. …”
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    Real-World Biomarker Test Utilization and Subsequent Treatment in Patients with Early-Stage Non-small Cell Lung Cancer in the United States, 2011−2021
  17. 8817
    “…Four mutations in CCNB3 were found and effects of these mutations were validated by Sanger sequencing and in vitro functional analyses. …”
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    Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages
  18. 8818
    “…In this retrospective study, we compared the methylation patterns, analyzed by Sanger sequencing, of 27 isocitrate dehydrogenase (IDH)-wildtype glioblastoma patients that survived more than 3 years (long-term survivors) with those of 24 patients who survived less than a year after initial surgery (short-term survivors). …”
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    MGMT methylation pattern of long-term and short-term survivors of glioblastoma reveals CpGs of the enhancer region to be of high prognostic value
  19. 8819
    “…Screening results were validated by Sanger sequencing and quantified by real-time PCR (ipsogen ETV6-RUNX1 Kit, Qiagen). …”
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    Abstract 24 Development of an In Vitro B-Cell Differentiation Model for the Characterization of the Origin and Causation of ETV6::RUNX1+ Preleukemic Cells
  20. 8820
    “…METHODS: We sequenced the whole protein-coding region in NAT2 using Sanger’s method among a sample of 45 Jordanian T2DM patients and 50 control subjects. …”
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    Clinical Significance of NAT2 Genetic Variations in Type II Diabetes Mellitus and Lipid Regulation
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