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Registros recuperados: 3
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High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1 BJMBR
Trovó-Marqui,A.B.; Goloni-Bertollo,E.M.; Valério,N.I.; Pavarino-Bertelli,E.C.; Muniz,M.P.; Teixeira,M.F.; Antonio,J.R.; Tajara,E.H..
A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Neurofibromatosis type I; Plexiform neurofibroma; Mental retardation; Learning difficulties; Scoliosis.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900020
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Genetic variability of vascular endothelial growth factor and prognosis of head and neck cancer in a Brazilian population BJMBR
Ruiz,M.T.; Biselli,P.M.; Maniglia,J.V.; Pavarino-Bertelli,E.C.; Goloni-Bertollo,E.M..
Vascular endothelial growth factor (VEGF) is one of the most potent endothelial cell mitogens and plays a critical role in angiogenesis. Polymorphisms in this gene have been evaluated in patients with several types of cancer. The objectives of this study were to determine if there was an association of the -1154G/A polymorphism of the VEGF gene with head and neck cancer and the interaction of this polymorphism with lifestyle and demographic factors. Additionally, the distribution of the VEGF genotype was investigated with respect to the clinicopathological features of head and neck cancer patients. The study included 100 patients with histopathological diagnosis of head and neck squamous cell carcinoma. Patients with treated tumors were excluded. A total...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Head and neck cancer; Polymorphism; Genetic; VEGF gene.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000200002
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5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer BJMBR
Galbiatti,A.L.S.; Ruiz,M.T.; Biselli-Chicote,P.M.; Raposo,L.S.; Maniglia,J.V.; Pavarino-Bertelli,E.C.; Goloni-Bertollo,E.M..
The functional effect of the A>G transition at position 2756 on the MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase), involved in folate metabolism, may be a risk factor for head and neck squamous cell carcinoma (HNSCC). The frequency of MTR A2756G (rs1805087) polymorphism was compared between HNSCC patients and individuals without history of neoplasias. The association of this polymorphism with clinical histopathological parameters was evaluated. A total of 705 individuals were included in the study. The polymerase chain reaction-restriction fragment length polymorphism technique was used to genotype the polymorphism. For statistical analysis, the chi-square test (univariate analysis) was used for comparisons between groups and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Head and neck cancer; Polymorphism; Folate metabolism; MTR gene.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000500005
Registros recuperados: 3
Primeira ... 1 ... Última
 

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