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Lack of mutation in exon 10 of p53 gene in thyroid tumors
(Sociedad Médica de Santiago, 2004)
Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis
(Faculdade de Medicina / USP, 2009)
BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated ...
PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients
(HOSPITAL CLINICAS, UNIV SAO PAULOSAO PAULO, 2012)
OBJECTIVES: The phosphatidylinositol 3-kinase/AKT axis is an important cell-signaling pathway that mediates cell proliferation and survival, two biological processes that regulate malignant cell growth. The phosphatidylinositol ...
Nphs1 Gene Mutations Confirm Congenital Nephrotic Syndrome In Four Brazilian Cases: A Novel Mutation Is Described
(Wiley-BlackwellHoboken, 2016)
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus
(2017-04-01)
Chaga's disease is an important communicable neglected disease that is gaining wider attention due to its increasing incidence worldwide. Achalasia due to chagasic megaesophagus (CM), a complication of this disease, is a ...
N-RAS and K-RAS gene mutations in Brazilian patients with multiple myeloma
(Taylor & Francis LtdAbingdonInglaterra, 2006)
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
(1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...