1,372 research outputs found

    The new Corpus of Baroque Ceiling Painting in Germany

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    Stephan Hoppe and Ute Engel Corpus der barocken Deckenmalerei in Deutschland (CbDD). Erfassung, Analyse und digitale Publikation der architekturgebundenen Malerei (ca. 1550-1800) auf dem Gebiet der heutigen Bundesrepublik Deutschland Academies´ Programme, Union of the German Academies of Sciences and Humanities Union of the German Academies of Sciences and Humanities Bayerische Akademie der Wissenschaften, Munich, 2015–2039 Project Director: Prof. Dr. Stephan Hoppe, Institut für Kun..

    Ute Engel, Die Kathedrale von Worcester. Munich/Berlin, Deutscher Kunstverlag, 2000

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    Kurmann Peter. Ute Engel, Die Kathedrale von Worcester. Munich/Berlin, Deutscher Kunstverlag, 2000. In: Bulletin Monumental, tome 162, n°2, année 2004. pp. 136-137

    Ute Engel, Die Kathedrale von Worcester. Munich/Berlin, Deutscher Kunstverlag, 2000

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    Kurmann Peter. Ute Engel, Die Kathedrale von Worcester. Munich/Berlin, Deutscher Kunstverlag, 2000. In: Bulletin Monumental, tome 162, n°2, année 2004. pp. 136-137

    Trends of Europeanization in social welfare politics. IHS Political Science Series 82, July 2002

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    Fritz W. Scharpf (2000 and 2002) defines the term Europeanization as the progressive shift of governmental tasks to the European level. According to this understanding he identifies four modes of Europeanization. Further, he recognizes the establishment of minimum standards and the open method of co-ordination as specific modes of Europeanization. This paper first relates the welfare political goals and problems of both named methods of Europeanization in social welfare politics, then describes the political processes which accompany them, and subsequently tests whether Scharpf’s analysis can be affirmed

    Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

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    Using quantitative real-time polymerase chain reaction (QRT-PCR), molecular genetic analysis was carried out for endoglin (ENG) and activin A receptor type II-like kinase 1 (ACVRL1/ALK1) gene rearrangements in a group of 45 clinically confirmed hereditary haemorrhagic telangiectasia (HHT) families with negative direct sequencing results. We detected five large novel deletions, four in the ALK1 gene and one in the ENG gene. In two families, the whole ALK1 gene was deleted. One of these two deletions spanned at least 216 kb and included five neighbouring genes (LOC728503, ANKRD33, ACVR1B, GRASP, and NR4A1). The lack of additional symptoms in the patient carrying this large deletion indicates that heterozygous loss of these five genes has no obvious phenotypical effect. To our knowledge, this is the first report on whole ALK1 gene deletions in HHT patients. We rescreened our 45 families for large rearrangements using the multiplex ligation-dependent probe amplification (MLPA) method. No discrepancies between the results of QRT-PCR and MLPA were found. Our present work proves QRT-PCR as a reliable and sensitive method. Thus, our study supports that screening for large rearrangements should be considered to improve the genetic analysis in HHT patients with no apparent mutations in ALK1 and ENG using direct sequencing

    Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia

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    Hereditary haemorrhagic teleangiectasia (HHT) is an autosomal dominantly inherited disorder characterised by cutaneous and mucosal telangiectasias, epistaxis and arteriovenous malformations in lung, liver, central nervous system and gastrointestinal tract. Mutations in the genes for endoglin (ENG) and for activin A receptor type II-like kinase 1 (ACVRL1) have been identified to cause HHT. We performed molecular diagnosis in clinically affected probands of 52 HHT families and detected mutations in 34 cases. We report on a total of 19 novel disease-causing mutations, 7 in ENG and 12 in ACVRL1. Three of the novel mutations affected acceptor splice-sites in the ENG gene. RNA analyses in these three patients and in two further patients described before resulted in reduction of the transcript or in a shortened transcript. Furthermore, we identified a family with the mutation c.199C > T in the ACVRL1 gene with liver AVMs. This is the fifth family with this mutation and liver AVMs, clearly indicating a genotype-phenotype correlation for this mutation

    Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia

    No full text
    Hereditary haemorrhagic teleangiectasia (HHT) is an autosomal dominantly inherited disorder characterised by cutaneous and mucosal telangiectasias, epistaxis and arteriovenous malformations in lung, liver, central nervous system and gastrointestinal tract. Mutations in the genes for endoglin (ENG) and for activin A receptor type II-like kinase 1 (ACVRL1) have been identified to cause HHT. We performed molecular diagnosis in clinically affected probands of 52 HHT families and detected mutations in 34 cases. We report on a total of 19 novel disease-causing mutations, 7 in ENG and 12 in ACVRL1. Three of the novel mutations affected acceptor splice-sites in the ENG gene. RNA analyses in these three patients and in two further patients described before resulted in reduction of the transcript or in a shortened transcript. Furthermore, we identified a family with the mutation c.199C > T in the ACVRL1 gene with liver AVMs. This is the fifth family with this mutation and liver AVMs, clearly indicating a genotype-phenotype correlation for this mutation
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