Naissance de l'art performatif : étude sur les prémisses du moment romantique en Allemagne.

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Clinical and molecular phenotype of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

Guipuzcoaco provinciaren condaira edo historia : ceñetan jarritzen diraden arguiro beraren asieratic orain-arte dagozquion barri gogoangarriac / eguin eta zucendu cebana Juan Ignacio de Iztueta.

Dialecto : texto en euskera central -- guipuzcoano

Guipuzcoaco dantza gogoangarrien condaira edo historia : beren soñu zar, eta itz-neurtu edo bersoakin : baita berac ongui dantzatzeco iracaste edo instruczioac ere / beraren eguillea, Juan Ignacio de Iztueta.

2. aldiz

Die brüder A. W. und F. Schlegel in ihrem verhältnisse zur bildenden kunst,

Mode of access: Internet.

History of the hundred of Carhampton, in the county of Somerset, from the best authorities,

Title vignette.

Shakespeare's dramatische Werke,

Schlegel's translation completed by Wolf graf von Baudissin and Dorothea Tieck, with notes only by Tieck himself. cf. All. deut. biog., v. 38, p. 271, etc.

Shakespeare's dramatische Werke,

Schlegel's translation completed by Wolf graf von Baudissin and Dorothea Tieck, with notes only by Tieck himself. cf. All. deut. biog., v.38, p. 271, etc.

Shakespeare's dramatische Werke /

Mode of access: Internet.

Parabeln.

Mode of access: Internet.

Aug. Wilhelm Schlegels vorlesungen über philosophische kunstlehre

Mode of access: Internet.

Shakespeares dramatische Werke /

Mode of access: Internet.

The Robin, and other parables for children /

Mode of access: Internet.