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  1. 8881
    “…CONCLUSIONS: This study included the largest Korean DFNB9 cohort to date and proposed a set of the most frequent four OTOF variants, allowing the potential prioritization of exons during Sanger sequencing. Further, a significant association of p.Arg1939Gln homozygotes with poor residual hearing was observed. …”
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    Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics
  2. 8882
    “…All exons and the exon-intron boundaries of CHRNA2, CHRNA4, CHRNB2, CRH, KCNT1 were amplified and Sanger sequenced. In the proband, we found a c.754T>C (p.Tyr252His) missense mutation located in the N-terminal ligand-binding domain and inherited from the mother. …”
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    CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation
  3. 8883
    “…The entire coding region of MC4R gene was screened by Sanger sequencing. RESULTS: As a result, five previously described variants (Met1?…”
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    Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient
  4. 8884
    por Borràs, Nina, Orriols, Gerard, Batlle, Javier, Pérez-Rodríguez, Almudena, Fidalgo, Teresa, Martinho, Patricia, López-Fernández, María Fernanda, Rodríguez-Trillo, Ángela, Lourés, Esther, Parra, Rafael, Altisent, Carme, Cid, Ana Rosa, Bonanad, Santiago, Cabrera, Noelia, Moret, Andrés, Mingot-Castellano, María Eva, Navarro, Nira, Pérez-Montes, Rocío, Marcellin, Sally, Moreto, Ana, Herrero, Sonia, Soto, Inmaculada, Fernández-Mosteirín, Núria, Jiménez-Yuste, Víctor, Alonso, Nieves, de Andrés-Jacob, Aurora, Fontanes, Emilia, Campos, Rosa, Paloma, María José, Bermejo, Nuria, Berrueco, Ruben, Mateo, José, Arribalzaga, Karmele, Marco, Pascual, Palomo, Ángeles, Quismondo, Nerea Castro, Iñigo, Belén, Nieto, María del Mar, Vidal, Rosa, Martínez, María Paz, Aguinaco, Reyes, Tenorio, Jesús María, Ferreiro, María, García-Frade, Javier, Rodríguez-Huerta, Ana María, Cuesta, Jorge, Rodríguez-González, Ramón, García-Candel, Faustino, Dobón, Manuela, Aguilar, Carlos, Vidal, Francisco, Corrales, Irene
    Publicado 2019
    “…RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. …”
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    Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA
  5. 8885
    “…Genetic variations were successfully identified by sanger sequencing. A linear mixed model analysis was performed to evaluate blood pressures among TRIB3 (251, A > G) genotypes and adjusted for baseline age, gender, body mass index, systolic blood pressure (SBP), diastolic blood pressure (DBP), total cholesterol and other biochemical factors appropriately. …”
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    Polytropic Influence of TRIB3 rs2295490 Genetic Polymorphism on Response to Antihypertensive Agents in Patients With Essential Hypertension
  6. 8886
    “…Our recent work indicated a sequence gap (> 1 kb) in the mt genomes of E. granulosus genotype G1, which could not be determined by PCR-based Sanger sequencing. The aim of the present study was to define the complete mt genome, irrespective of structural complexities, using a long-read sequencing method. …”
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    Long-read sequencing reveals a 4.4 kb tandem repeat region in the mitogenome of Echinococcus granulosus (sensu stricto) genotype G1
  7. 8887
    “…Genetic analyses for the HNF1A gene p.S487 N (rs2464196), p.A98V (rs1800574) and p.I27L (rs1169288) SNPs were performed using Sanger-based DNA sequencing among the control group. …”
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    HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey
  8. 8888
    “…Exome sequencing, confirmed by Sanger sequencing, identified a de novo dominant mutation (L69F) in CCDC53. …”
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    SAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And Causes Disproportionate Short Stature With Noonan-like Facies
  9. 8889
    “…Genetic testing was performed for participants without a known monogenic form of diabetes, including either 1) Sanger sequencing for KCNJ11, ABCC8, and INS or 2) next-generation sequencing panel covering all known forms of neonatal diabetes. …”
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    SAT-129 Examining the Role of Genetic Testing in Early Onset Diabetes Occurring After 6 Months of Age
  10. 8890
    “…Methods and Patients: 110 MEN1 index cases were included: amplicons based on long-range PCR covering the full MEN1 open reading frame of 94 MEN1 index cases (49 familial, 45 sporadic) were sequenced by targeted-Next Generation Sequencing (tNGS) MiSeq Illumina platform while Sanger Sequencing (SS) was approached to the other 16 MEN1 index cases (2 familial, 14 sporadic). …”
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    SUN-046 Identification of Clinical Predictors for Detection of Mutations in Multiple Endocrine Neoplasia Type 1
  11. 8891
    “…Near-full-length VP7 gene and the VP8* fragment of the VP4 gene were obtained by Sanger sequencing and genotypes were determined using RotaC v2.0 web-based genotyping tool. …”
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    Genetic analysis of Ghanaian G1P[8] and G9P[8] rotavirus A strains reveals the impact of P[8] VP4 gene polymorphism on P-genotyping
  12. 8892
    “…Genomic DNA screening, by targeted DNA repair genes sequencing, revealed an MSH2 pathogenic mutation (c.1552C>T; p.Q518X), confirmed by Sanger sequencing. This mutation was suspected to be a causal mutation associated to the loss of MSH2 expression and it was found in first and second degree relatives. …”
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    Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
  13. 8893
    “…In this project, methods for complete genome sequencing of RSV via Sanger and Illumina MiSeq platforms were optimized. …”
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    A41 Deep sequencing of respiratory syncytial virus links viral diversity to disease severity
  14. 8894
    “…We recommend that (1) for species distributed in wet tropical climates, silica gel-dried specimens should be used preferentially; (2) for species distributed in seasonally dry tropical climates, herbarium and silica gel-dried specimens yield similar results, and either collection can be used; (3) taxon-specific traits should be explored and established for effective optimisation of taxon-specific studies using herbarium specimens; (4) all herbarium sheets should, in future, be annotated with details of the preservation method used; (5) long-term storage of herbarium specimens should be in stable, low-humidity, and low-temperature environments; and (6) targeted sequencing with universal probes, such as Angiosperms353, should be investigated closely as a new approach for DNA barcoding that will ensure better exploitation of herbarium specimens than traditional Sanger sequencing approaches.…”
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    Factors Affecting Targeted Sequencing of 353 Nuclear Genes From Herbarium Specimens Spanning the Diversity of Angiosperms
  15. 8895
    “…M. hominis isolates underwent the same testing, with the addition of linezolid and exclusion of azithromycin and erythromycin, as M. hominis is intrinsically resistance to 14 and 15-membered macrolides and azilides. PCR and Sanger sequencing were employed to identify molecular mechanisms associated with resistance. …”
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    2187: Investigation of antimicrobial resistance in Ureaplasma species and Mycoplasma hominis isolates from urine cultures in college-aged females
  16. 8896
    “…Sequence types (STs) were generated by Sanger sequencing and MLST using standard protocols (pubmlst.org). …”
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    2468. Is On-Demand Multilocus Sequence Typing of Methicillin-resistant Staphylococcus aureus (MRSA) and Clostridioides difficile Hospital Isolates Useful for Infection Control Practice?
  17. 8897
    “…Extracted nucleic acids were amplified using nested, RT-PCR targeting the VP1-P2B region, and a 315 nt fragment was sequenced using Sanger sequencing. Contacts to cases received HAV prophylaxis and HAV vaccine outreaches occurred in at-risk settings. …”
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    284. Using Epidemiologic Investigation and Viral Sequencing to Describe and Provide Public Health Response to an Outbreak (OB) of Acute Hepatitis A Virus Infection (HAV) in the San Fernando Valley (SFV), California
  18. 8898
    “…The probands from families C, D, F, and G underwent Sanger sequencing analysis of the complement factor H (CFH) gene. …”
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    Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
  19. 8899
    “…PATIENTS AND METHODS: We examined the mutational status of CD79B and MYD88 by Sanger sequencing, and the gene amplification and protein expression of MYD88 in tissue samples from 30 cases of PT-DLBCL by quantitative polymerase chain reaction and immunohistochemistry, respectively. …”
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    Prevalence And Clinical Significance Of Oncogenic CD79B And MYD88 Mutations In Primary Testicular Diffuse Large B-Cell Lymphoma: A Retrospective Study In China
  20. 8900
    “…HIVDR was assessed for protease, reverse transcriptase and integrase Sanger sequences using the Stanford HIVdb algorithm. …”
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    High levels of pretreatment and acquired HIV drug resistance in Nicaragua: results from the first nationally representative survey, 2016
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