999 resultados para Hippel, Theodor Gottlieb von, 1741-1796.


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"Aus dem decemberhefte des jahrganges 1857 der Sitzungsberichte der Philosophisch-historischen classe der Kais. akademie der wissenschaften, xxv. bd. besonders abgedruckt."

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Photo-offset. Frankfurt am Main, Minerva, 1970.

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Includes bibliographical references and index.

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Hilka, A. Liber de monstruosis hominibus orientis aus Thomas von Cantimpré: De natura rerum.--Schoenaich, G. Die neronische Christenverfolgung.--Winkler, H. Die Zugehörigkeit der finnischen Sprachen zum uralaltaischen Sprachstamm II.--Vogt, H. Geometrie und Ökonomie der Bienenzelle.--Schlossarek, M. Die Sprache des Terenz unter hauptsächlicher Berücksichtigung ihres rhetorischen Elements.

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Signatures: A-2N⁸ ( $ 1-5 signed)

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von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumours, especially cerebellar haemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). The etiology and manifestations are due to germline and somatic mutations in the VHL tumour suppressor gene. VHL disease is classified into type 1 and type 2, showing a clear genotype-phenotype correlation, as type 2 is associated with phaeochromocytoma and essentially caused by missense mutations. The aim of this study is to characterize the phenotype and genotype of families with VHL disease. Eighteen of twenty patients from ten unrelated families underwent genetic testing, nine of them fulfilled VHL disease criteria and one had an apparently sporadic cerebellar haemangioblastoma. Four different germline mutations in the VHL gene were identified: c.226_228delTTC (p.Phe76del); c.217C > T (p.Gln73X); IVS1-1 G > A and IVS2-1 G > C. The first three mutations were associated with type 1 disease and the last one with type 2B, which had never been identified in the germline. The transcriptional processing of a novel splice-site mutation was characterised. Three type 1 VHL families showed large deletions of the VHL gene, two of them encompassed the FANCD2/C3orf10 genes and were not associated with renal lesions. We also suggest that such families should be subclassified according to the risk of RCC and the extent of the VHL gene deletions. This study highlights the need for a through clinical and molecular characterisation of families with VHL disease to better delineate its genotype-phenotype correlation.