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  1. 1381
    “…Discovery of further SNPs in the region of interest allows the mutation to be mapped with the same recombinants to a region of about 50 kb. …”
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    A rapid method to map mutations in Drosophila
  2. 1382
    por Bollen, I. A. E., van der Velden, J.
    Publicado 2017
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    The contribution of mutations in MYH7 to the onset of cardiomyopathy
  3. 1383
    “…We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external beam radiotherapy. …”
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    Pituitary Carcinoma in a Patient with an SDHB Mutation
  4. 1384
    “…We used transcription activator-like effector nucleases (TALENs) to generate null mutations in zebrafish kctd15a and kctd15b paralogs to study the in vivo role of Kctd15. …”
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    Generation and characterization of Kctd15 mutations in zebrafish
  5. 1385
    por Pan, Zimin, Xie, Xing
    Publicado 2017
    “…Known to be lethal, OC is difficult to detect and control. Testing for BRCA mutations is a key step in the risk assessment, prognosis, treatment and prevention of OC and current clinical guidelines recommend BRCA mutation testing for all OCs of epithelial origin. …”
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    BRCA mutations in the manifestation and treatment of ovarian cancer
  6. 1386
    “…Microsatellite instability and mutation analyses of a panel of oncogenes were performed in the tumors harboring POLE mutations. …”
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    POLE somatic mutations in advanced colorectal cancer
  7. 1387
    “…A recurrent missense mutation was identified from BSND gene. We found that the whole gene deletion mutation of CLCNKB gene was the most frequent mutation (32%), and the rate of gross deletion was up to 50 percent in this group of Chinese patients. …”
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    Mutation spectrum of Chinese patients with Bartter syndrome
  8. 1388
    por Bellissimo, Dana C., Speck, Nancy A.
    Publicado 2017
    “…RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. …”
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    RUNX1 Mutations in Inherited and Sporadic Leukemia
  9. 1389
    “…Up to 40% of the cases are caused by germline mutations in one of at least 15 susceptibility genes, making them the human neoplasms with the highest degree of heritability. …”
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    Activating FGFR1 Mutations in Sporadic Pheochromocytomas
  10. 1390
    “…Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. …”
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    WISP3 mutation associated with pseudorheumatoid dysplasia
  11. 1391
    “…A variety of transgenic rodent cell culture models and mutation detection systems have been developed for mutagenicity testing of carcinogens. …”
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    Mutation Analysis in Cultured Cells of Transgenic Rodents
  12. 1392
    “…SUMMARY: Combination therapy with BRAF and MEKi has evolved as a standard of care in the treatment of locally advanced or metastatic BRAF(V600)-mutated melanoma. Despite compelling initial RRs, development of treatment resistance eventually leads to tumor progression in the majority of BRAF/MEK-inhibitor treated patients. …”
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    Development of encorafenib for BRAF-mutated advanced melanoma
  13. 1393
    “…A positive correlation was observed for mutation m.5178C>A. At the same time, a highly significant negative correlation with myocardial infarction was observed for mutation m.14846G>A. …”
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    Mitochondrial Genome Mutations Associated with Myocardial Infarction
  14. 1394
    “…Genomic variants were identified for mutation and trinucleotide-based mutational signature analysis. …”
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    Mutational landscape of radiation-associated angiosarcoma of the breast
  15. 1395
    “…Mutation rate varies along the human genome, and part of this variation is explainable by measurable local properties of the DNA molecule. …”
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    Evolution of Local Mutation Rate and Its Determinants
  16. 1396
    “…Cancer genome sequencing has shown that driver genes can often be distinguished not only by the elevated mutation frequency but also by specific nucleotide positions that accumulate changes at a high rate. …”
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    Systematic characterization of pan‐cancer mutation clusters
  17. 1397
    “…In melanoma, glioma, and thyroid cancers, TERT promoter mutations are associated with a poor prognosis. However, no studies have evaluated the prevalence and prognostic significance of TERT promoter mutations in breast cancer. …”
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    TERT promoter hotspot mutations in breast cancer
  18. 1398
    por Yokus, Osman, Gedik, Habip
    Publicado 2018
    “…BACKGROUND: We aimed to investigate the etiologic causes and the existence of Janus kinase 2 mutation (JAK2) in cases with thrombocytosis. METHODS: In this retrospective study, patients who were admitted to hematology clinic with thrombocytosis between 2013 and 2015 were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. …”
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    Jak-2 mutation frequency in patients with thrombocytosis
  19. 1399
    “…These results further confirm the infrequency of ras mutation in stomach tumors and also suggest that ras mutations are not specific to the differentiated type of stomach cancer.…”
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    Infrequent ras Mutation in Human Stomach Cancers
  20. 1400
    “…The other case had no mutation in exon 3. Our results suggested that mutations at serine/threonine residues involved in phosphorylation by GSK‐3β affected the stability of β‐catenin. …”
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    Mutations of the β‐Catenin Gene in Endometrial Carcinomas
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