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Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11. 2 deletion

Oliveira, Aline Pinheiro Martins de; Pereira, Raquel Campos; Onofre, Patrícia Toscano; Marques, Vanessa Daccach; Andrade, Gilberto Brown de; Barreira, Amilton Antunes; Marques Junior, Wilson.
Arq. neuropsiquiatr; 74 (2), 2016
ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neur...
Cromosomas Humanos Par 17/genética, Eliminación de Gen, Conducción Nerviosa/fisiología, Neuralgia/etiología, Parálisis, Parestesia/etiología, Enfermedades del Sistema Nervioso Periférico/genética, Enfermedades del Sistema Nervioso Periférico/fisiopatología, Presión, Trastornos de la Sensación/etiología
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p-53: Applications in internal medicine and predictive significance

Geller, Mauro; Ribeiro, Marcia G; Araujo, Alexandra Prufer de Q. C.
RBM rev. bras. med; 62 (1/2), 2005
The authors present a review of the properties and functions of the p53 gene and its protein product, along with clinical correlations for tumor development. The genetic expression and prognostic evaluation as well as therapies is reviewed. Also discussed is the importance of mutations in the p53 gene an...
Cromosomas Humanos Par 17, Proteína p53 Supresora de Tumor, Genes p53, Medicina Interna