Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Hansjakob Mueller"'
Autor:
Karl Heinimann, Martina Plasilova, Paivi Peltomaki, Hansjakob Mueller, Giancarlo Marra, Anna Russell, Saara Ollila, Annette Lindroos, Jian Zhang
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited cancer predisposition syndrome caused by germ line mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2, with large genomic rearrangements accountin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7823f51e21cd163267ecec562e4998f6
https://doi.org/10.1158/0008-5472.c.6495306
https://doi.org/10.1158/0008-5472.c.6495306
Autor:
Karl Heinimann, Martina Plasilova, Paivi Peltomaki, Hansjakob Mueller, Giancarlo Marra, Anna Russell, Saara Ollila, Annette Lindroos, Jian Zhang
Supplementary Table 3 from Gene Conversion Is a Frequent Mechanism of Inactivation of the Wild-Type Allele in Cancers from MLH1/MSH2 Deletion Carriers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34bf96bc8f1e3344965a856cae4df4fe
https://doi.org/10.1158/0008-5472.22366818.v1
https://doi.org/10.1158/0008-5472.22366818.v1
There exists today a fast growing availability of personal genetic information. Its prognostic impact and value for an individual or family member's health is sometimes unclear, whilst at other times it is clear-cut. The issue of whether to disclose
Autor:
Päivi Peltomäki, Karl Heinimann, Jian Zhang, Hansjakob Mueller, Anna Russell, Annette Lindroos, Saara Ollila, Martina Plasilova, Giancarlo Marra
Publikováno v:
Cancer Research. 66:659-664
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited cancer predisposition syndrome caused by germ line mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2, with large genomic rearrangements accountin
Autor:
Jian Zhang, Martina Plasilova, Giancarlo Marra, Karl Heinimann, Markus Mettler, Hansjakob Mueller, Roberta Okhowat
Publikováno v:
Genes, Chromosomes and Cancer. 45:1106-1110
Hereditary nonpolyposis colorectal cancer is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1. Here we report the first proven de novo germ line mut
Autor:
Pierre Hutter, Jian Zhang, Claudine Rey Berthod, Karl Heinimann, Anna Russell, Judith Luz, Hansjakob Mueller, Pierre O. Chappuis, Philippe Maillet
Publikováno v:
International Journal of Cancer. 118:1937-1940
In 10–30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (
Autor:
Martina Dubach, Samuel Leutwyler, Christian Kropf, Kärin Nickelsen, Ole Seehausen, Christian Leumann, Jan Kramers, Pascal Mäser, Michael Taborsky, Jens Schlieter, Reinhold Bernhardt, Wolfgang Lienemann, Daniel Schümperli, Ernst Peterhans, Hansjakob Müller, Monika Betzler, Hans K Schmutz, Ruth Reusser, Virginia Richter
Die Aussagen Darwins bilden bis heute die Basis für die moderne Evolutionsforschung. Das Forum für Universität und Gesellschaft der Universität Bern hat nachgefragt, was aus der Theorie geworden ist, die vor über 150 Jahren im bahnbrechenden Wer
Autor:
Hansjakob Mueller, Lucienne Gautier, Mauro Buser, Karl Heinimann, Giancarlo Marra, Nicole Buerki, Michal Kovac
Publikováno v:
Genes, chromosomescancer. 51(1)
Lynch syndrome, an autosomal dominant cancer predisposition caused by mutations in DNA mismatch repair (MMR) genes, mainly mainly mutL homolog 1, OMIM 120436 (MLH1) and mutS homolog 2, OMIM 609309 (MSH2), encompasses a tumor spectrum including primar
Autor:
Josef Jiricny, Karl Heinimann, Michal Kovac, Giancarlo Marra, Endre Laczko, Ritva Haider, Hansjakob Mueller
Publikováno v:
Familial Cancer
Familial cancer, 10 (3)
Europe PubMed Central
Familial cancer, 10 (3)
Europe PubMed Central
Familial aggregations of colorectal cancer can often be definitively linked to Deleterious germ line variants involving particularly?those involving the DNA mismatch repair ((MMR) ) genes have been identified as the cause of the hereditary nonpolypos
Autor:
Birgit Schnieders, Elisabeth Dequeker, David E. Barton, Lynn Mainland, Ira M. Lubin, Hiroshi Yoshikura, Armando Albert Martinez, Margaret M. McGovern, Ségolène Aymé, Alena Blazkova, Rob Elles, Hansjakob Mueller, Clemens R. Mueller, Nancy Carson, Bob Williamson, Isabella Beretta, Domenica Taruscios, Ulf Kristoffersson, Radim Brdicka, Joe Boone, Gerald Hoefler, Jorge Sequeiros, Mauri Keinanen, Martin J. Somerville, Elettra Ronchi, Vibeke Dalen, Meral Özgüç
Publikováno v:
Community genetics. 10(3)
Objective: To collect data on the practices of molecular genetic testing (MGT) laboratories for the development of national and international policies for quality assurance (QA). Methods: A web-based survey of MGT laboratory directors (n = 827; respo