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  1. 9101
    “…Both phage genomes were sequenced by a 454 and Sanger hybrid approach. Genomes were annotated and protein homologies were determined by Blast and HHPred. …”
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    Whole genome sequencing and comparative genomic analyses of two Vibrio cholerae O139 Bengal-specific Podoviruses to other N4-like phages reveal extensive genetic diversity
  2. 9102
    “…Genetic analysis of the EXOSC3 gene was performed using Sanger sequencing. Clinical data, MR images and autopsy reports of patients positive for EXOSC3 mutations were analyzed. …”
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    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
  3. 9103
    “…The cloned and subcloned DNA fragments in pUC19 were sequenced by Sanger sequencing. Sequences were assembled by using Sequencher software. …”
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    Complete sequence and detailed analysis of the first indigenous plasmid from Xanthomonas oryzae pv. oryzicola
  4. 9104
    “…We analysed ECG recordings of 52 patients with alternating hemiplegia from nine countries: all had whole-exome, whole-genome, or direct Sanger sequencing of ATP1A3. Data on autonomic dysfunction, cardiac symptoms, medication, and family history of cardiac disease or sudden death were collected. …”
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    Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
  5. 9105
    por Liu, Jihong, Xu, Hao, Niu, Yonghua
    Publicado 2015
    “…We also used semiconductor target areas sequencing and Sanger sequencing to detect the mutations in 15 IHH causative genes in 4 KS patients with cleft lip/palate (CLP) and 8 IGD patients (including 5 KS patients, one nIHH patients and two AIHH patients) without CLP. …”
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    AB158. A total of 213 cases with male isolated gonadotropin-releasing hormone deficiency: clinical feature analysis and gene mutation study in some cases
  6. 9106
    “…Traditional targeted sequencing approach, involving Sanger sequencing of plasmid-cloned PCR products, has low throughput and is very tedious and time-consuming. …”
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    Distinguishing highly similar gene isoforms with a clustering-based bioinformatics analysis of PacBio single-molecule long reads
  7. 9107
    “…RESULTS: We investigated the role of this C-terminal region, by first describing the frequency, distribution and structural characteristics of i) TNL genes and ii) their PL domains in the peach genome, using the v1.0 Sanger sequence together with the v2.0 sequence, which has better genome annotation due to the incorporation of transcriptomic data. …”
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    TNL genes in peach: insights into the post-LRR domain
  8. 9108
    “…The host species for each mosquito specimen was identified with polymerase chain reactions and subsequent Sanger sequencing of the cytochrome b gene. RESULTS: A total of 32 host species were identified for 23 mosquito species, covering 21 mammalian species (including humans) and eleven bird species. …”
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    Host-feeding patterns of mosquito species in Germany
  9. 9109
    “…The mutational landscape of ETP-ALL with respect to GATA3 expression was investigated in 18 patients and validated by Sanger sequencing in 65 patients with ETP-ALL. Gene expression profiles (Affymetrix Human genome U133 Plus 2.0) of an independent cohort of adult T-ALL (n = 83) were used to identify ETP-ALL and investigate GATA3(low) and GATA3(high) expressing T-ALL patients. …”
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    Silencing of GATA3 defines a novel stem cell-like subgroup of ETP-ALL
  10. 9110
    “…Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene–targeted NGS was required to identify the underlying cause of disease for individuals within the three families. …”
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    Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families
  11. 9111
    “…Parasite DNA was extracted from 120 samples followed by nested polymerase chain reaction (nPCR). Sanger sequencing was performed to detect and identify SNPs in pfap2mu and pfubp1 genes. …”
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    Prevalence of Plasmodium falciparum delayed clearance associated polymorphisms in adaptor protein complex 2 mu subunit (pfap2mu) and ubiquitin specific protease 1 (pfubp1) genes in Ghanaian isolates
  12. 9112
    por Li, Min, Xu, Min, Liu, Wei, Gao, Xin
    Publicado 2018
    “…Genotype differences (CYP3 A4*1G, CYP3 A5*3, ABCB1 1236C > T and ABCB1 2677G > T/A) were detected by Sanger sequencing. The clinical efficacy was evaluated by the 24 h urinary protein quantitation, albumin, renal function and the degree of edema. …”
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    Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome
  13. 9113
    “…Mutations in ASXL1, Janus kinase (JAK)2, calreticulin (CALR) and myeloproliferative leukemia (MPL) genes were detected using Sanger sequencing, and data were statistically analyzed. …”
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    ASXL1 mutations in Chinese patients with essential thrombocythemia
  14. 9114
    “…NS3, NS5A and NS5B sequences were analysed in 1445 HCV-infected DAA-naïve patients. Sanger-sequencing was performed by home-made protocols on 464 GT1a, 585 GT1b, 92 GT2c, 199 GT3a, 16 GT4a and 99 GT4d samples. …”
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    Prevalence of Single and Multiple Natural NS3, NS5A and NS5B Resistance-Associated Substitutions in Hepatitis C Virus Genotypes 1–4 in Italy
  15. 9115
    “…DNA sequencing analysis of MKRN3 coding region by Sanger method was performed and loss-of-function MKRN3 mutations were identified in all of them. …”
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    MON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3
  16. 9116
    “…All cases were screened for SATB1 copy number variations (CNVs) using droplet digital PCR, and 190 cases were screened for mutations via Sanger sequencing. In silico predictions were retrieved from the Varsome browser. …”
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    SUN-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model
  17. 9117
    “…Design: The 5’ untranslated region (5’UTR) and coding regions of MKRN3 and DLK1 were amplified and sequenced by Sanger sequencing. Family members of patients with identified MKRN3 or DLK1 variants were included for genetic analysis when DNA was available. …”
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    SUN-264 Mutations in the Maternally Imprinted Genes, MKRN3 and DLK1, Associated with Central Precocious Puberty
  18. 9118
    “…The clinical manifestation of 5αRD2 and AIS ranged from female external genitalia or hypospadias to micropenis or cryptorchidism. 5αRD2 and AIS diagnoses were based on clinical features and laboratory tests, then confirmed by Sanger sequencing. Steroids were tested by LC-MS/MS with an Agilent 6495 tandem mass spectrometer. …”
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    SUN-362 Differences in Both Gonadal and Adrenal-Derived Androgens in 5α-Reductase Deficiency versus Androgen Insensitivity Syndrome and Normal Chinese Men Using LC-MS/MS
  19. 9119
    “…Identified variants were classified according to ACMG/AMP guidelines and those considered to be disease-causing were confirmed by Sanger sequencing. Segregation analysis was pursued when familial samples were available. …”
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    OR13-5 The Molecular Landscape of Osteogenesis Imperfecta in a Brazilian Tertiary Service Cohort
  20. 9120
    “…Negative SDHB tumor staining is indicative of SDH-deficient tumors, and thereby germline SDHx mutations (Evenepoel et al Genet Med 2015; De Sousa et al Eur J Endocrinol 2017). As for most Sanger and next generation sequencing (NGS) tests, SDHx genetic testing targets exons and ≤20bp of flanking intronic regions. …”
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    OR34-6 A Novel Mechanism of SDH-Deficient Tumorigenesis and Implications for Genetic Testing in Patients with Pheochromocytoma-Paraganglioma
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