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Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome
(Professor D A SpandidosAthensGrécia, 2008)
Analysis of 5382insC (BRCA1) and 6174de1T (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
(2002)
Breast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development ...
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
(SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIARIO DE JANEIRO, RJ, 2013-08-02)
Objectives: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. Subjects and methods: Patients underwent ultrasound, thyroid scan, ...
Multiple paragangliomas associated to a SDHB gene mutation. report of one case Paragangliomas múltiples asociados a mutación del gen SDHB. caso clínico
(2011)
Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations ...
Toxicogenomic activity of gemcitabine in two TP53-mutated bladder cancer cell lines: special focus on cell cycle-related genes
(Springer, 2012-12-01)
Because of its lower toxicity and good tolerability and response, gemcitabine has been described as one of the most highly promising drugs for urinary bladder cancer therapy. Its phosphorylated active-dFdCTP metabolite can ...
Analysis of the mechanism of action of the Brazilian type ((A)gamma-195 C -> G) of hereditary persistence of fetal hemoglobin
(Blackwell MunksgaardCopenhagenDinamarca, 2003)