Materias dentro de su búsqueda.
Mostrando 2,321 - 2,340 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.53s Limitar resultados
  1. 2321
    “…CHEK2 functionality is affected by different missense or deleterious mutations. CHEK2*1100delC and I157T are most studied in populations all over the world. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Current perspectives on CHEK2 mutations in breast cancer
  2. 2322
    “…Next-generation sequencing of a panel of genes found a novel heterozygous germline c.570delC mutation in TMEM127, one of the genes that, if mutated, confers susceptibility to syndromic pheochromocytoma. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Pheochromocytomatosis associated with a novel TMEM127 mutation
  3. 2323
    “…A general heterogeneity in the mutation frequencies was observed, mostly depending on tumor type. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Pan-Cancer Mutational and Transcriptional Analysis of the Integrator Complex
  4. 2324
    “…Both the MCOA syndrome and the Silver coat colour in horses are caused by the same missense mutation in the premelanosome protein (PMEL) gene. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The refractive state of the eye in Icelandic horses with the Silver mutation
  5. 2325
    “…As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
  6. 2326
    “…Conversely, ecological indices calculated using operational taxonomic units (OTUs) presence, abundance, and phylogeny revealed a significant impact of root hair mutations on the composition of the rhizosphere microbiota. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Root Hair Mutations Displace the Barley Rhizosphere Microbiota
  7. 2327
    “…We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Familial cases and male cases with MECP2 mutations
  8. 2328
    “…Mutations in BRCA1 or BRCA2 define a subset of prostate cancer patients. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations in BRCA2 and taxane resistance in prostate cancer
  9. 2329
    “…CONCLUSIONS: This first epidemiological study of EGFR mutations in Uruguay reveals a wide spectrum of mutations and an overall prevalence of 18.3%. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population
  10. 2330
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mitochondrial cardioencephalopathy due to a COQ4 mutation
  11. 2331
    “…CONCLUSIONS: Here we show that somatic mutations, including mutations in known cancer genes, are present in the leukocytes infiltrating a subset of primary breast cancers. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Somatic mutations in leukocytes infiltrating primary breast cancers
  12. 2332
    “…The frequency of gene mutations of the pathway was significantly higher in BMs than in primary tumours, and SERPINI1 was the most frequently mutated gene in BMs. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Mutations targeting the coagulation pathway are enriched in brain metastases
  13. 2333
    por Dateki, Sumito
    Publicado 2017
    “…At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    ACAN mutations as a cause of familial short stature
  14. 2334
    “…Mutations in human genes can be responsible for inherited genetic disorders and cancer. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    DNA mutation motifs in the genes associated with inherited diseases
  15. 2335
    “…BACKGROUND: Most gastrointestinal stromal tumors (GISTs) harbor mutually exclusive gain of function mutations in the receptor tyrosine kinase (RTK) KIT (70–80%) or in the related receptor PDGFRA (~10%). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Succinate dehydrogenase deficiency in a PDGFRA mutated GIST
  16. 2336
    “…In 17 of 18 patients, mutations identified in bone marrow during active disease were also found in a time-matched serum sample. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Monitoring multiple myeloma by quantification of recurrent mutations in serum
  17. 2337
    “…Sample-level analyses reveal that while some cancers are heterogeneous, others are largely dominated by one type of mutation. Using a non-overlapping set of samples from the COSMIC somatic mutation database, we validate five of six mutation signatures, including signatures with prominent arginine to histidine (Arg>His) or glutamate to lysine (Glu>Lys) mutations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Prominent features of the amino acid mutation landscape in cancer
  18. 2338
    “…OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Ataxia-pancytopenia syndrome with SAMD9L mutations
  19. 2339
    “…A large number of studies have revealed that the evolution of influenza A virus is mainly mediated through the mutation of the virus itself and the re-assortment of viral genomes derived from various strains. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Evolution of Influenza A Virus by Mutation and Re-Assortment
  20. 2340
    “…Activating KRAS mutations in lung adenocarcinoma are characterized with treatment resistance and poor prognosis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Apatinib in the treatment of advanced lung adenocarcinoma with KRAS mutation
Herramientas de búsqueda: RSS