Výsledky vyhledávání - "Guido C. Casalis Cavalchini"

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns

Autor: Monica Micheletti, Tiziana Venesio, Giorgia Mandrile, Anna Allavena, I. Borelli, Ivana Sarotto, Guido C. Casalis Cavalchini, Barbara Pasini, Paola Ogliara, Paola Berchialla, Marco Barberis, Cecilia Bracco, Serena Del Peschio, Luisa Delsedime

The MLH1 c.2252_2253delAA mutation was found in 11 unrelated families from a restricted area south-west of Turin among 140 families with mutations in the mismatch repair genes. The mutation is located in the highly conserved C-terminal region, respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::912f6b01decb16603dd6edbf939ff80a
http://hdl.handle.net/2318/143995

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A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

Autor: Barbara Pasini, Anna Allavena, Carlo Carcassi, Luisa Balestrino, Monica Micheletti, I. Borelli, Caterina Vivanet, Francesca Spina, Paola Sala, Guido C. Casalis Cavalchini, Marco Barberis

Lynch syndrome is an autosomal-dominant hereditary condition predisposing to the development of specific cancers, because of germline mutations in the DNA-mismatch repair (MMR) genes. Large genomic deletions represent a significant fraction of germli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2bcda9700c9ea5e2bbfa1259fcfe9be
https://europepmc.org/articles/PMC3548257/

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