989 resultados para Maimbourg, Louis (S.I.), 1610-1686
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SCOPUS: ar.j
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Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100kb), rare copy number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1,564 cases and 1,748 controls all from Ireland, and further extended the analysis to include an additional 5,196 UK controls. We found association with duplications at chr20p12.2 (P=0.007) and evidence of replication in large independent European schizophrenia (P=0.052) and UK bipolar disorder case-control cohorts (P=0.047). A combined analysis of Irish/UK subjects including additional psychosis cases (schizophrenia and bipolar disorder) identified 22 carriers in 11,707 cases and 10 carriers in 21,204 controls (meta-analysis CMH P value=2x10(-4) (odds ratio (OR)=11.3, 95% CI=3.7, ∞)). Nineteen of the 22 cases and 8 of the 10 controls carried duplications starting at 9.68Mb with similar breakpoints across samples. By haplotype analysis and sequencing we identified a tandem ∼149kb duplication overlapping the gene p21 Protein-Activated Kinase 7 (PAK7, also called PAK5) which was in linkage disequilibrium with local haplotypes (P=2.5x10(-21)), indicative of a single ancestral duplication event. We confirmed the breakpoints in 8/8 carriers tested and found co-segregation of the duplication with illness in two additional family members of one of the affected probands. We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.
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Collectionneur : Gaignières, Roger de (1642-1715)
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Comprend : Louis XVI aux Franc̜ais
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Nombreux feuillets mutilés.
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Essai de plume au f. 2: "Jehan Labbe", XVIe s. (?). Ex-libris "S. Cornelii Compend. Congr. S. Mauri" suivi du chiffre 1, XVIIe s., f. 1. Compiègne.
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Au f. 1v figurent un ex-libris effacé et une mention de possesseur (?): "Girardo di Piotte di Torunzzo", ainsi que la mention "A la bibliotheque de l'Eglise de Paris" précédée de la cote F9 (XVIIe s.). Notre-Dame.
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F. 1, tables.F. 1v-2, tableau des actions et commentaires.F. 3-68v. Justinianus, Institutiones. "In nomine domini nostri Jhesu Christi Imperator Caesar Flavius Justinianus Alemanicus Gotichus...Imperatoria majestate non solum armis...-... alioquin diligentior eorum scientia vobis ex latioribus digestorum sive pandectarum libris deo propitio adventura est... Domini Justiniani liber explicit Institutionum seu Elementotum."F. 69-72v. Justinianus, Authenticum (Nov. 1 et Nov. 2, début du chap. II). "In nomine domini nostri Jesus Christi librorum Authenticorum seu Constitutionum Novellarum incipit collatio, id est de heredibus et falcidia. Imperator Justinianus Johannis... Hoccupatis nobis circa totius rei publice...-... Nam si non filio forte, sed alicui extra[neo]..." (incomplet).Au bas du f. 72v, mention effacée illisible : "Ex [...]niadus [...]dit quod f[..]ler..."
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Entré à la Bibliothèque du roi en 1732 parmi les mss. de Jean-Baptiste Colbert; cf. Delisle, Cab. des mss., I, 439-547; Omont, Concordances des mss. latins, 48-77; — n° 5 du "Catalogue des mss. envoyez par M. Boudon & portez dans la bibliotheque de Monseigneur le 10. decembre 1680... Registre de st Louis & de Philippe le Hardy"; cf. latin 9364, f. 53-54; Delisle, Cab. des mss, I, 473
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[Acte. 1576-1585]