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Christofolini,Denise M.; Lipay,Monica V.N.; Ramos,Marco Antonio P.; Costa,Silvia S.; Bellucco,Fernanda T.S.; Nogueira,Sintia I.; Kulikowski,Leslie D.; Brunoni,Décio; Melaragno,Maria Isabel. |
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary. The use of clinical checklists in mentally retarded individuals can help selecting patients to be given priority in the molecular investigation for the fragile-X mutation in the FMR1 gene. We evaluated two clinical checklists in a sample of 200 Brazilian male patients with mental retardation. The highest scores in the two checklists concentrated among the 19 males (9.5%) found to carry full mutations. Our results confirm the importance of fragile-X checklists as a clinical tool in the study of mentally... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: FMR1 gene; Fragile X syndrome checklist; Molecular methods; X-linked mental retardation. |
Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600002 |
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Oviedo-Rondón,Edgar O.. |
Intestines of each animal are the niche of a complex and dynamic ecosystem with important effects to the host. The members or final products of this ecosystem influence nutrient digestion, absorption, mucosa metabolism, general physiology, and local and systemic immunological responses of avian hosts. Better understanding of the avian gut microbial ecosystem may lead to improvements on poultry productivity, health, welfare, and reduction of food borne pathogens and the environmental impact of poultry production for a more sustainable industry. Molecular methods of microbial ecology are key tools to gain this knowledge. The objective of this presentation is to outline the basic concepts, applications, advantages, limitations, and evolution of these... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Intestinal microbial ecology; Nutrition; Molecular methods. |
Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982009001300022 |
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Pereira,M.A.A.; Nowosh,V.; Suffys,P.N.; Queiroz,G.B.; Silva,K.M.O.; Lourenço,M.C.S.; Vicente,A.C.P.; Fontes,A.N.B.; Morgado,S.; Neves,R.C.S.M.. |
ABSTRACT Canine Leproid Granuloma Syndrome (CLGS), also known as canine leprosy, is a cutaneous nodular infectious disease caused by Mycobacterium sp.. Despite being reported worldwide, it is still quite unknown and underdiagnosed. Diagnosis may be achieved by cytopathology or histopathology of skin lesions, but identification of the infectious agent is complex, since bacterial in vitro growth is not possible, relying upon molecular techniques such as PCR to confirm Mycobacterium DNA in the sample. We report a CLGS case in Niteroi, Rio de Janeiro state, Brazil, diagnosed by cytopathology and submitted to molecular identification of the agent. PCR amplification of hsp65 gene was performed and revealed 100% genetic homology to M. murphy strain. This is the... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CLGS; Hsp65 sequence; Isolate Metcalfe; Molecular methods. |
Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352018000601699 |
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