978 resultados para CoMP


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Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. The purpose of this study was to investigate the frequency of mutations in individuals with a clinical and radiographic diagnosis of MED and to test the hypothesis that characteristic radiological findings may be helpful in predicting the gene responsible. The radiographs of 74 Korean patients were evaluated by a panel of skeletal dysplasia experts. Six genes known to be associated with MED (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) were screened by sequencing. Mutations were found in 55 of the 63 patients (87%). MATN3 mutations were found in 30 patients (55%), followed by COMP mutations in 23 (41%), and COL9A2 and DTDST mutations in one patient (2%) each. Comparisons of radiographic findings in patients with COMP and MATN3 mutations showed that albeit marked abnormalities in hip and knee joints were observed in both groups, the degree of involvement and the morphology of dysplastic epiphyses differed markedly. The contour of the pelvic acetabulum, the presence of metaphyseal vertical striations, and/or the brachydactyly of the hand were also found to be highly correlated with the genotypes. The study confirms that MATN3 and COMP are the genes most frequently responsible for MED and that subtle radiographic signs may give precious indications on which gene(s) should be prioritized for mutational screening in a given individual.

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Titre uniforme : [Sonates. Flûte, clavier. BWV 1030. Si mineur]

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Titre uniforme : [Sonates. Flûte, clavier. BWV 1030. Si mineur]

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Comprend : Pikovaâ dama ; Zaczarowana krolewna

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Electrodes modified with poly(5-amino-1-naphthol)/Prussian blue (poly(5-NH2-1-NAP)/PB) hybrid films are able to electrochemically reduce H2O2 in medium containing an excess of Na+ cations. This is an important advantage for biosensing applications over electrodes in which only conventionally (electro) deposited Prussian blue is present. Consequently, the aim of this work was to examine the application of templates of ordered arrays of colloidal poly(styrene) spheres (800, 450 and 100 nm in diameter) to produce inverse opal structures of poly(5-NH2-1-NAP)/PB hybrid platforms, in an effort to study the influence of the increase in surface area/volume ratio and higher exposition of the mediator active sites on material performance during H2O2 determination employing the different sized porous structures. Moreover, since the accentuated hydrophilic character of poly(5-NH2-1-NAP)/PB also allows H2O2 electrochemical reduction in inner active sites, issues concerning the amount of mediator electrodeposited on the electrode were also reflected in the observed results.

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Comprend : Resveillez-moi / Garnier, comp. ; Marcelle Gerar, S ; acc. de violes, flûte et guit. ; La loy d'honneur / Gentian, comp. ; Marcelle Gerar, S ; acc. de violes, flûte et guit. ; En entrant en ung jardin / Sermisy, comp. ; Marcelle Gerar, S ; acc. de violes, flûte et guit. ; Jehan de Lagny / Berchem, comp. ; Marcelle Gerar, S ; acc. de violes, flûte et guit. ; Que feu craintif / Berchem, comp. ; Marcelle Gerar, S ; acc. de violes, flûte et guit. ; Gros Jehan menoit hors de Paris / N. René, comp. ; Marcelle Gerar, S ; acc. de violes, flûte et guit.

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Titre uniforme : [Sonates en trio. Flûte, violon, basse continue. TWV 42 E 4. Mi majeur]

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Titre uniforme : [La sonnambula]. Extrait

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Titre uniforme : [Leçons de ténèbres à une et deux voix. No 2]