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Mostrando 161 - 180 Resultados de 9,396 Para Buscar '"Sanger"', tiempo de consulta: 0.33s Limitar resultados
  1. 161
    “…METHODS: Forty-nine Usher type 2 or atypical Usher families who had missing mutations (mono-allelic USH2A or no mutations following Sanger sequencing of nine Usher genes) were screened for duplications/deletions using the USH2A SALSA MLPA reagent kit (MRC-Holland). …”
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    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
  2. 162
    “…RESULTS: Unexpectedly, four distinct DNA migration patterns were identified by SSCP. Sanger sequencing revealed two additional SNPs: g.-200C > A and g.-168C > T giving a rise to a total of ten EAAT2 promoter variants. …”
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    Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing
  3. 163
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    Clinical impact of ultra deep versus Sanger sequencing detection of minority mutations on HIV-1 drug resistance genotype interpretation after virological failure
  4. 164
    “…Results from the cobas test and Sanger sequencing were discordant for 20 cases (7.8%). …”
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    KRAS Mutation Test in Korean Patients with Colorectal Carcinomas: A Methodological Comparison between Sanger Sequencing and a Real-Time PCR-Based Assay
  5. 165
    “…HBV RT sequences were analyzed in 427 patients by Sanger sequencing and in 66 patients by next-generation sequencing. …”
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    Characterization and Clinical Significance of Natural Variability in Hepatitis B Virus Reverse Transcriptase in Treatment-Naive Chinese Patients by Sanger Sequencing and Next-Generation Sequencing
  6. 166
    “…Two full-length and two near-full genome sequences of AcV-1 variants were determined by Sanger sequencing. The genome structure of these Chinese AcV-1 variants was identical to that of isolate K75 and consisted of 12 open reading frames (ORFs). …”
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    Next-Generation Sequencing Combined With Conventional Sanger Sequencing Reveals High Molecular Diversity in Actinidia Virus 1 Populations From Kiwifruit Grown in China
  7. 167
    “…CONCLUSIONS: POP/SUI patients have specific SNPs in COL1A1 and COL3A1 sequenced by Sanger method.…”
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    Collagen type 3A1 and 1A1 polymorphisms in women with pelvic organ prolapse and urinary incontinence assessed with Sanger sequencing method
  8. 168
    “…Genomic DNA was isolated, and polymerase chain reaction and Sanger sequencing were performed using specific primers for the I148M, K434E, E167K, H63D, and C282Y. …”
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    Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study
  9. 169
    Publicado 2010
    Libro
    Transgender identities : towards a social analysis of gender diversity /
  10. 170
    “…RESULTS: Expressed sequence tags were generated by Sanger sequencing of cDNA libraries from different immune-related tissues after several parasitic challenges. …”
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    A combined strategy involving Sanger and 454 pyrosequencing increases genomic resources to aid in the management of reproduction, disease control and genetic selection in the turbot (Scophthalmus maximus)
  11. 171
    “…Concordance between the methods was k = 0.79 for Sanger sequencing and k > 0.85 for the other techniques. …”
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    454 next generation-sequencing outperforms allele-specific PCR, Sanger sequencing, and pyrosequencing for routine KRAS mutation analysis of formalin-fixed, paraffin-embedded samples
  12. 172
    “…METHODS: RAS mutations were detected in the 51 FFPE CRC samples by PGM analysis, Sanger sequencing and the Therascreen KRAS assay, respectively. …”
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    Validation of targeted next-generation sequencing for RAS mutation detection in FFPE colorectal cancer tissues: comparison with Sanger sequencing and ARMS-Scorpion real-time PCR
  13. 173
    “…Mutation Surveyor software was used to detect and quantify the SMN1 variants by calculating allelic proportions in Sanger sequencing. Finally, turnaround time and cost of these two strategies were compared. …”
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    Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing
  14. 174
    “…Sanger sequencing seems to be an obsolete technology. …”
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    Identification of uncultured bacteria from abscesses of exotic pet animals using broad-range nested 16S rRNA polymerase chain reaction and Sanger sequencing
  15. 175
    “…This study aimed to exercise the Sanger sequencing strategy for screening of variants among confirmed COVID-19 cases and validate our strategy against NGS strains in Hiroshima retrieved from GISAID. …”
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    Exercising the Sanger Sequencing Strategy for Variants Screening and Full-Length Genome of SARS-CoV-2 Virus during Alpha, Delta, and Omicron Outbreaks in Hiroshima
  16. 176
    por Chan, Koon-Wing, Wong, Chung-Yin, Leung, Daniel, Yang, Xingtian, Fok, Susanna F. S., Mak, Priscilla H. S., Yao, Lei, Ma, Wen, Mao, Huawei, Zhao, Xiaodong, Liang, Weiling, Singh, Surjit, Barbouche, Mohamed-Ridha, He, Jian-Xin, Jiang, Li-Ping, Liew, Woei-Kang, Le, Minh Huong Thi, Muktiarti, Dina, Santos-Ocampo, Fatima Johanna, Djidjik, Reda, Belaid, Brahim, Ismail, Intan Hakimah, Abdul Latiff, Amir Hamzah, Lee, Way Seah, Chen, Tong-Xin, Liu, Jinrong, Jin, Runming, Wang, Xiaochuan, Chien, Yin Hsiu, Yu, Hsin-Hui, Raj, Dinesh, Raj, Revathi, Vaughan, Jenifer, Urban, Michael, van den Berg, Sylvia, Eley, Brian, Lee, Anselm Chi-Wai, Isa, Mas Suhaila, Ang, Elizabeth Y., Lee, Bee Wah, Yeoh, Allen Eng Juh, Shek, Lynette P., Quynh Le, Nguyen Ngoc, Nguyen, Van Anh Thi, Phan Nguyen Lien, Anh, Capulong, Regina D., Mallillin, Joanne Michelle, Villanueva, Jose Carlo Miguel M., Camonayan, Karol Anne B., Vera, Michelle De, Casis-Hao, Roxanne J., Lobo, Rommel Crisenio M., Foronda, Ruby, Binas, Vicky Wee Eng, Boushaki, Soraya, Kechout, Nadia, Phongsamart, Gun, Wongwaree, Siriporn, Jiratchaya, Chamnanrua, Lao-Araya, Mongkol, Trakultivakorn, Muthita, Suratannon, Narissara, Jirapongsananuruk, Orathai, Chantveerawong, Teerapol, Kamchaisatian, Wasu, Chan, Lee Lee, Koh, Mia Tuang, Wong, Ke Juin, Fong, Siew Moy, Thong, Meow-Keong, Latiff, Zarina Abdul, Noh, Lokman Mohd, de Silva, Rajiva, Jouhadi, Zineb, Al-Saad, Khulood, Vignesh, Pandiarajan, Jindal, Ankur Kumar, Rawat, Amit, Gupta, Anju, Suri, Deepti, Yang, Jing, Au, Elaine Yuen-Ling, Kwok, Janette Siu-Yin, Chan, Siu-Yuen, Hui, Wayland Yuk-Fun, Chua, Gilbert T., Duque, Jaime Rosa, Cheong, Kai-Ning, Chong, Patrick Chun Yin, Ho, Marco Hok Kung, Lee, Tsz-Leung, Wong, Wilfred Hing-Sang, Yang, Wanling, Lee, Pamela P., Tu, Wenwei, Yang, Xi-Qiang, Lau, Yu Lung
    Publicado 2022
    “…To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. …”
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    Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity
  17. 177
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    Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)
  18. 178
    “…In this study, TDRM, detected by next-generation sequencing (NGS) were compared to those identified by Sanger-based population sequencing (SBS) in recently infected HIV-1 patients. …”
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    Comparison between next-generation and Sanger-based sequencing for the detection of transmitted drug-resistance mutations among recently infected HIV-1 patients in Israel, 2000–2014
  19. 179
    “…The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. …”
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    Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
  20. 180
    “…However, for some cases, no ATP2C1 mutation could be determined by standard Sanger sequencing, thereby obscuring the cause and diagnosis of HHD. …”
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    A Novel Microduplication Spanning Exons 8–16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey–Hailey Disease
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