Search Results - "Attenhofer, Michèle"

Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test by Necker, Judith, Kovac, Michal, Attenhofer, Michèle, Reichlin, Bruno, Heinimann, Karl

“…Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited colorectal cancer predisposition caused by germ line mutations in the APC…”
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Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? by ITIN, Peter H, HEINIMANN, Karl, ATTENHOFER, Michèle, BOESCH, Nemya, DE LORENZO, Rosaria, TRÜB, Swantje, BURGER, Bettina

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Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer by Heinimann, Karl, Scott, Rodney J., Buerstedde, Jean‐Marie, Weber, Walter, Siebold, Karl, Attenhofer, Michèle, Müller, Hansjakob, Dobbie, Zuzana

“…BACKGROUND Hereditary nonpolyposis colorectal cancer (HNPCC) is linked genetically to mutations in DNA mismatch repair (MMR) genes. Because a deficiency in MMR…”
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Enhanced sensitivity of a modified protein truncation test for exons 1-14 of the adenomatous polyposis coli gene by Dobbie, Z, D'Orazio, D, Attenhofer, M, Müller, H

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Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? by Itin, Peter H, Heinimann, Karl, Attenhofer, Michèle, Boesch, Nemya, De Lorenzo, Rosaria, Trüb, Swantje, Burger, Bettina

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Germline alterations in the cyclooxygenase‐2 gene are not associated with the development of extracolonic manifestations in a large Swiss familial adenomatous polyposis kindred by Humar, Bostjan, Giovanoli, Olivier, Wolf, Angela, Attenhofer, Michéle, Bendik, Igor, Meier, Rémy, Müller, Hansjakob, Dobbie, Zuzana

“…Familial adenomatous polyposis (FAP) is an autosomal dominant condition leading to the development of multiple colorectal polyps and other features…”
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BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients by Garvin, A M, Attenhofer-Haner, M, Scott, R J

“…Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using…”
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