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  1. 9081
    “…RESULTS: From May 2016 to October 2020, 30 patients were identified as KP-wtGIST by Sanger sequencing and 16 were confirmed by central molecular screening with NGS. …”
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    REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial
  2. 9082
    “…METHODS: All exons and flanking intronic regions of LPL were Sanger sequenced in patients with HTG-related acute pancreatitis (HTG-AP) or HTG-AP in pregnancy. …”
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    Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date
  3. 9083
    “…Skin samples were processed for histology, transmission electron microscopy (TEM), DNA extraction, PCR, and Sanger sequencing targeting molecular markers cytochrome oxidase c subunit 1 (cox1), 12S, 18S rDNA, and 28S rDNA. …”
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    Reassessing Stephanofilaria stilesi dermatitis in cattle, with characterization of molecular markers for confirming diagnosis
  4. 9084
    “…The validation and characteristics of hsa_circ_0067842 were investigated using qRT-PCR, sanger sequencing, RNase R treatment, actinomycin D treatment and fluorescence in situ hybridization (FISH). …”
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    Circular RNA hsa_circ_0067842 facilitates tumor metastasis and immune escape in breast cancer through HuR/CMTM6/PD-L1 axis
  5. 9085
    “…Candidate pathogenic variants were validated by Sanger sequencing in family members, and the pathogenicity of variants was analyzed using ACMG guidelines. …”
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    Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve
  6. 9086
    “…FUNDING: Wellcome funding to the Sanger Institute, UK Research and Innovation, National Institute for Health and Care Research, European and Developing Countries Clinical Trials Partnership, and UK Health Security Agency.…”
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    Genomic epidemiology of syphilis in England: a population-based study
  7. 9087
    “…BRAF(V600E) and TERT promoter mutations were tested by PCR-based Sanger sequencing. Persistent disease (PD) included all patients in structurally or biochemically incomplete and indeterminate response as defined by the 2015 ATA guidelines. …”
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    THU683 TERT Promoter Mutations, But Not BRAF(V600E)Mutation, Correlate With The American Thyroid Association And TNM Staging Systems And Predict Outcome Of Differentiated Thyroid Cancer
  8. 9088
    “…CYP11B2 IHC-guided DNA capture followed by sequencing analysis using direct Sanger sequencing or ion torrent based next-generation sequencing (NGS) was performed. …”
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    FRI137 Histologic And Genetic Characteristics Of Primary Aldosteronism In Late Adulthood
  9. 9089
    “…Genomic DNA samples from these tumors were subjected to PCR-amplification of all 18 coding exons of AMBRA1, followed by Sanger sequencing. Sequences were analyzed by comparison to the normal reference sequence: ENST00000683756.1, seeking to assess any observed intragenic or splice-site variants as potential or likely loss-of-function mutations. …”
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    SAT177 Molecular Analysis Of AMBRA1 As A Candidate Tumor Suppressor In Sporadic Parathyroid Adenomas
  10. 9090
    “…Next-generation sequencing and targeted Sanger sequencing for 79 genes associated with obesity in human and animal models was performed. …”
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    SAT673 Novel Mutation Of TBX3 Associated With Morbid Obesity In Human
  11. 9091
    “…Here, we report two families with CYP26B1-related phenotypes and describe the data obtained from functional studies of the variants. Exome and Sanger sequencing were used for variant identification in family 1 and family 2, respectively. …”
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    CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
  12. 9092
    “…SNPs in the promoter region were detected using Sanger sequencing and genotyped using the improved multiplex ligation detection reaction (iMLDR(®)) technique. …”
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    NCAPG Regulates Myogenesis in Sheep, and SNPs Located in Its Putative Promoter Region Are Associated with Growth and Development Traits
  13. 9093
    “…Topoisomerase PCR cloning of Spike open-reading frame and Sanger sequencing of samples was performed for four specimens to validate the findings. …”
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    Resurgence of SARS-CoV-2 Delta after Omicron variant superinfection in an immunocompromised pediatric patient
  14. 9094
    “…METHODS: In our research, employing internet websites and databases including TIMER, GEPIA, TISIDB, Kaplan–Meier Plotter, SangerBox, cBioPortal, and LinkedOmics, DCLRE1B-related data in numerous tumors were extracted. …”
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    DCLRE1B promotes tumor progression and predicts immunotherapy response through METTL3-mediated m6A modification in pancreatic cancer
  15. 9095
    por Mascaro, Jose Manuel, Rodriguez-Pinto, Ignasi, Poza, Gabriela, Mensa-Vilaro, Anna, Fernandez-Martin, Julian, Caminal-Montero, Luis, Espinosa, Gerard, Hernández-Rodríguez, Jose, Diaz, Marina, Rita-Marques, Joana, Sanmarti, Raimon, Castañeda, Santos, Colunga, Dolores, Coto-Hernández, Rubén, Fanlo, Patricia, Elejalde, Jose Ignacio, Bujan, Segundo, Figueras, Ignasi, Marco, Francisco Manuel, Andrés, Mariano, Suárez, Silvia, Gonzalez-Garcia, Andres, Fustà-Novell, Xavier, Garcia-Belando, Clara, Granados, Ana, Fernandez-Figueras, Maria Teresa, Quilis, Neus, Orriols-Caba, Maria, Gómez de la Torre, Ricardo, Cid, Maria Cinta, Espígol-Frigolé, Georgina, Alvarez-Abella, Alba, Labrador, Eztizen, Rozman, Maria, Lopez-Guerra, Monica, Castillo, Paola, Alamo-Moreno, Jose R, Gonzalez-Roca, Eva, Plaza, Susana, Fabregat, Virginia, Lara, Rocio, Vicente-Rabaneda, Esther F, Tejedor-Vaquero, Sonia, Magri, Giuliana, Bonet, Nuria, Solis-Moruno, Manuel, Cerutti, Andrea, Fornas, Oscar, Casals, Ferran, Yagüe, Jordi, Aróstegui, Juan I
    Publicado 2023
    “…METHODS: Gene analyses were performed by both Sanger and amplicon-based deep sequencing. Patients’ data were collected from their medical charts. …”
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    Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
  16. 9096
    “…METHODS: We reviewed all clinical specimens sent for culture-negative blood BRBPS (blood, serum and blood culture bottles) to the Laboratoire de santé publique du Québec, the reference laboratory for a large Canadian province, from May 2018 to November 2022. Sanger sequencing of the amplified 16s rRNA gene was performed in all PCR-positive specimens. …”
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    584. Microbiological Outcomes of Culture-Negative Blood Specimens Using 16s rRNA Broad-Range PCR Sequencing: a Retrospective Study in a Canadian Province from 2018 to 2022
  17. 9097
    “…To compare NGS results, 51 samples were extracted using the MagMAX™ FFPE DNA/RNA Ultra Kit (Applied Biosystems) followed by pan-fungal PCR (ITS1/ITS2/D1D2) and Sanger sequencing (SS) and analyzed through NCBI nucleotide blast for ID. …”
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    987. Identification of Fungal Pathogens In Formalin-Fixed Paraffin-Embedded (FFPE) Tissues by Targeted Next-Generation Sequencing (NGS) Technology
  18. 9098
    “…The causative genes were screened by targeted next-generation sequencing (TGS) and verified by Sanger sequencing. In silico analyses (SIFT, Polyphen2, Revel, MutationTaster, and GERP + +) were carried out to evaluate the pathogenicity of the variants. …”
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    Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy
  19. 9099
    “…Obtained amplicons were subjected to Sanger sequencing. One positive sample was randomly selected for next-generation sequencing (NGS). …”
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    Borrelia puertoricensis in opossums (Didelphis marsupialis) from Colombia
  20. 9100
    “…Mutations in bestrophin 1 (BEST1) were identified by bidirectional Sanger sequencing. In family 1, segregation of BEST1 alleles was performed by assaying four microsatellite markers (D11S935, D11S4102, D11S987, and D11S4162) that flank BEST1. …”
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    Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study
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