4 resultados para Kerr, Robert Malcolm, 1821-1902.


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1 carta (manuscrita) ; 202x145mm.

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[ES] En el Archivo General de la Universidad de Navarra, dentro del Fondo Luis de Eleizalde, se conservan un telegrama y ocho cartas de Sabino Arana Goiri al propio Eleizalde, fechadas entre el 3 de diciembre de 1900 y el 21 de agosto de 1902. Se trata de una documentación inédita, de gran interés para conocer diversos aspectos de la ideología y la acción política y cultural del fundador del nacionalismo vasco en los últimos años de su vida. Las cartas aportan nuevos datos sobre las difíciles relaciones de Arana con los fueristas del semanario Euskalduna, su participación en el Congreso de Hendaya para la unificación ortográfica del euskera, las publicaciones periódicas creadas por él (en especial la revista cultural Euzkadi), su controvertida evolución españolista de 1902, etc.

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Antonio Duplá Ansuategui, Piedad Frías Nogales e Iban Zaldúa (editores)

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Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.