74 resultados para Ashkenazi
Ṣe'ênā û-re'ênā : kommṭ und šoieṭ ; ein erboiungs- und unṭerhalṭungsbuch tzunekzṭ fir izraeliṭen ...
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ferfasṭ und heroizgegeben fon Dawid Šwaitzer
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mimmenî ... Yehûdā Kōhēn Qrôys
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mimmenî ... Yehûdā Kōhēn Qrôys
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hekhino ... Mikhel ben ... Avraham ʿEpshṭain Segal
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Vorbesitzer: Abraham Berliner
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Vorbesitzer: Abraham Berliner;
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Vorbesitzer: Abraham Berliner
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Bibelkommentar
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translatus & notis illustratus à Joanne Stephano Rittanglio
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Vorbesitzer: Abraham Merzbacher oder Wilhelm Carl von Rothschild;
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Die Foliierung entspricht der des vollständigen Exemplars, es fehlt das Blatt 1.
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Vorbesitzer: Léonor d'E(s)tampes de Valençay; Aaron Moses Fuld
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me-et Shemuʾel Naḥum b. R. Yitsḥaḳ Rozenfeld ; ... neʿetḳu harbeh me-hem li-leshon Ashkenazi me-et ... Refaʾel Firśṭenṭhal
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Bibelkommentar
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Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5′ and 3′ regions of the APC gene. Attenuated adenomatous polyposis coli patients have “multiple” colorectal adenomas (typically fewer than 100) without the florid phenotype of classical FAP. Another group of patients with multiple adenomas has no mutations in the APC gene, and their phenotype probably results from variation at a locus, or loci, elsewhere in the genome. Recently, however, a missense variant of APC (I1307K) was described that confers an increased risk of colorectal tumors, including multiple adenomas, in Ashkenazim. We have studied a set of 164 patients with multiple colorectal adenomas and/or carcinoma and analyzed codons 1263–1377 (exon 15G) of the APC gene for germ-line variants. Three patients with the I1307K allele were detected, each of Ashkenazi descent. Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one of these individuals had an unusually large number of metaplastic polyps of the colorectum. There is increasing evidence that there exist germ-line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma, but without the florid phenotype of classical FAP, and possibly with importance for colorectal cancer risk in the general population.