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| Souza,D.R.S.; De Godoy,M.R.; Hotta,J.; Tajara,E.H.; Brandão,A.C.; Pinheiro Júnior,S.; Tognola,W.A.; Dos Santos,J.E.. |
| The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Alzheimer's disease; Vascular dementia; Dementia; Apolipoprotein E; Aging; Genetic polymorphisms. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000700013 |
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| 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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