Výsledky vyhledávání - "Krepischi, Ana CV"

Akademický článek

Number of rare germline CNVs and TP53 mutation types

Autor: Silva Amanda G, Achatz Isabel Maria W, Krepischi Ana CV, Pearson Peter L, Rosenberg Carla

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 101 (2012)

Abstract Background The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each separate mutation

Externí odkaz: https://doaj.org/article/e9d839f1d00f44d6b327149402ea5cc6

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Akademický článek

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

Autor: de O Ferreira Fábio, Santos Érika MM, Krepischi Ana CV, da Silva Felipe CC, Torrezan Giovana T, Rossi Benedito M, Carraro Dirce M

Publikováno v: BMC Medical Genetics, Vol 12, Iss 1, p 128 (2011)

Abstract Background MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene. Most MUTYH pathogenic variants are missense mutations, and until recently no gro

Externí odkaz: https://doaj.org/article/b34277149e664cf9a7badcc9c0cb530a

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