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Publications

Showing records 1 - 20 (of 28)

Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)

ID Author Year Title Publisher
4596629  Zimmermann, Bettina M.; Shaw, David; Heinimann, Karl; Knabben, Laura; Elger, Bernice; Koné, Insa 2020 How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study European journal of human genetics : EJHG : the official journal of the European Society of Human Genetics
1196337  Buerki, Nicole; Gautier, Lucienne; Kovac, Michal; Marra, Giancarlo; Buser, Mauro; Mueller, Hansjakob; Heinimann, Karl 2012 Evidence for breast cancer as an integral part of Lynch syndrome Genes, chromosomes & cancer
1195828  Burger, B.; Cattani, N.; Trueb, S.; de Lorenzo, R.; Albertini, M.; Bontognali, E.; Itin, C.; Schaub, N.; Itin, P. H.; Heinimann, K. 2011 Prevalence of skin lesions in familial adenomatous polyposis : a marker for presymptomatic diagnosis? The Oncologist
1193845  Kovac, Michal; Laczko, Endre; Haider, Ritva; Jiricny, Josef; Mueller, Hansjakob; Heinimann, Karl; Marra, Giancarlo 2011 Familial colorectal cancer: eleven years of data from a registry program in Switzerland Familial cancer
1194552  Necker, Judith; Kovac, Michal; Attenhofer, Michèle; Reichlin, Bruno; Heinimann, Karl 2011 Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis : a plea for the protein truncation test Journal of medical genetics
1195683  Fischmann, Arne; Gloor, Monika; Fasler, Susanne; Haas, Tanja; Rodoni Wetzel, Rachele; Bieri, Oliver; Wetzel, Stephan; Heinimann, Karl; Scheffler, Klaus; Fischer, Dirk 2011 Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy Journal of neurology
1192682  Filges, I.; Roethlisberger, B.; Blattner, A.; Boesch, N.; Demougin, P.; Wenzel, F.; Huber, A. R.; Heinimann, K.; Weber, P.; Miny, P. 2011 Deletion in Xp22.11 : PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism Clinical genetics
1192681  Gloor, Monika; Fasler, Susanne; Fischmann, Arne; Haas, Tanja; Bieri, Oliver; Heinimann, Karl; Wetzel, Stephan G; Scheffler, Klaus; Fischer, Dirk 2011 Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods Journal of magnetic resonance imaging
1194283  Filges, Isabel; Kang, Anjeung; Klug, Vanessa; Wenzel, Friedel; Heinimann, Karl; Tercanli, Sevgi; Miny, Peter 2011 aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis Prenatal diagnosis
1193492  Filges, Isabel; Kunz, Christophe; Miny, Peter; Boesch, Nemya; Szinnai, Gabor; Wenzel, Friedel; Tschudin, Sibil; Zumsteg, Urs; Heinimann, Karl 2011 A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis Fertility and sterility
4374174  Itin, Peter H.; Heinimann, Karl; Attenhofer, Michèle; Boesch, Nemya; De Lorenzo, Rosaria; Trüb, Swantje; Burger, Bettina 2010 Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? European journal of dermatology : EJD
1193370  Zlobec, I; Molinari, F; Kovac, M; Bihl, M P; Altermatt, H J; Diebold, J; Frick, H; Germer, M; Horcic, M; Montani, M; Singer, G; Yurtsever, H; Zettl, A; Terracciano, L; Mazzucchelli, L; Saletti, P; Frattini, M; Heinimann, K; Lugli, A 2010 Prognostic and predictive value of TOPK stratified by KRAS and BRAF gene alterations in sporadic, hereditary and metastatic colorectal cancer patients British journal of cancer
1197045  Zlobec, Inti; Kovac, Michal; Erzberger, Priska; Molinari, Francesca; Bihl, Michel P; Rufle, Alexander; Foerster, Anja; Frattini, Milo; Terracciano, Luigi; Heinimann, Karl; Lugli, Alessandro 2010 Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer International journal of cancer
1193604  von Kanel, Thomas; Gerber, Dominik; Schaller, André; Baumer, Alessandra; Wey, Eva; Jackson, Christopher B; Gisler, Franziska M; Heinimann, Karl; Gallati, Sabina 2010 Quantitative 1-step DNA methylation analysis with native genomic DNA as template Clinical chemistry
1197046  Vasen, H F A; Möslein, G; Alonso, A; Aretz, S; Bernstein, I; Bertario, L; Blanco, I; Bulow, S; Burn, J; Capella, G; Colas, C; Engel, C; Frayling, I; Rahner, N; Hes, F J; Hodgson, S; Mecklin, J-P; Møller, P; Myrhøj, T; Nagengast, F M; Parc, Y; Ponz de Leon, M; Renkonen-Sinisalo, L; Sampson, J R; Stormorken, A; Tejpar, S; Thomas, H J W; Wijnen, J; Lubinski, J; Järvinen, H; Claes, E; Heinimann, K; Karagiannis, J A; Lindblom, A; Dove-Edwin, I; Müller, H 2010 Recommendations to improve identification of hereditary and familial colorectal cancer in Europe Familial cancer
1193587  Montani, Matteo; Heinimann, Karl; von Teichman, Adriana; Rudolph, Thomas; Perren, Aurel; Moch, Holger 2010 VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts : further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease American journal of surgical pathology
1192680  Filges, Isabel; Röthlisberger, Benno; Boesch, Nemya; Weber, Peter; Wenzel, Friedel; Huber, Andreas R; Heinimann, Karl; Miny, Peter 2010 Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome American journal of medical genetics. Part A
1197044  Ganster, Christina; Wernstedt, Annekatrin; Kehrer-Sawatzki, Hildegard; Messiaen, Ludwine; Schmidt, Konrad; Rahner, Nils; Heinimann, Karl; Fonatsch, Christa; Zschocke, Johannes; Wimmer, Katharina 2010 Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event Human mutation
1194306  Out, Astrid A; Tops, Carli M J; Nielsen, Maartje; Weiss, Marjan M; van Minderhout, Ivonne J H M; Fokkema, Ivo F A C; Buisine, Marie-Pierre; Claes, Kathleen; Colas, Chrystelle; Fodde, Riccardo; Fostira, Florentia; Franken, Patrick F; Gaustadnes, Mette; Heinimann, Karl; Hodgson, Shirley V; Hogervorst, Frans B L; Holinski-Feder, Elke; Lagerstedt-Robinson, Kristina; Olschwang, Sylviane; van den Ouweland, Ans M W; Redeker, Egbert J W; Scott, Rodney J; Vankeirsbilck, Bruno; Grønlund, Rikke Veggerby; Wijnen, Juul T; Wikman, Friedrik P; Aretz, Stefan; Sampson, Julian R; Devilee, Peter; den Dunnen, Johan T; Hes, Frederik J 2010 Leiden Open Variation Database of the MUTYH gene Human mutation
1194068  Kantelinen, J; Kansikas, M; Korhonen, M K; Ollila, S; Heinimann, K; Kariola, R; Nyström, M 2010 MutSbeta exceeds MutSalpha in dinucleotide loop repair British journal of cancer
Showing records 1 - 20 (of 28)


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28/04/2024