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Molecular analysis of the eighteen most frequent mutations in the BRCA 1 gene in 63 Chilean breast cancer families
(Society of Biology of Chile, 2004)
BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, ...
Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues
(Wiley, 2014-03)
Mutations leading to activation of proto-oncogenic protein kinases (PKs) are a type of drivers crucial for understanding tumorogenesis and as targets for antitumor drugs. However, bioinformatics tools so far developed to ...
Reduzindo o Custo do Teste de Mutação com base em Informações de Análise Estática
(Universidade Federal de São CarlosUFSCarPrograma de Pós-Graduação em Ciência da Computação - PPGCCCâmpus São Carlos, 2019-02-26)
To guarantee the quality of the software, static and dynamic analysis techniques can be used. Both have advantages and disadvantages and should be used together to improve the quality of the results obtained. In this work, ...
A model-level mutation tool to support the assessment of the test case quality
(ASSOCIATION FOR INFORMATION SYSTEMS, 2018)
A model-level mutation tool to support the assessment of the test case quality
(SPRINGER HEIDELBERG, 2018)
A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation
(Endocrine Society, 2005-06)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and ...
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
(Scientific Reports, 2017-07-05)
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively ...